Core Curriculum for Maternal- Newborn Nursing Fourth Edition

Core Curriculum for Maternal- Newborn Nursing This page intentionally left blank Core Curriculum for Maternal- Newborn Nursing Fourth Edition Edited by: Susan Mattson, RNC-OB, CTN, PhD, FAAN Professor Emerita College of Nursing and Healthcare Innovation Arizona State University Tempe, Arizona Judy E. Smith, PhD, RNC-WHNP Professor School of Nursing California State University—Long Beach Long Beach, California 3251 Riverport Lane Saint Louis, MO 63043 CORE CURRICULUM FOR MATERNAL-NEWBORN NURSING ISBN: 978-1-4377-1576-7 Copyright © 2011 by Association of Women’s Health, Obstetric and Neonatal Nurses. Published by Saunders, an imprint of Elsevier Inc. All rights reserved. Copyright © 2004, 2000, 1993 by Saunders, an imprint of Elsevier Inc. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Permissions may be sought directly from Elsevier’s Rights Department: phone: (+1) (US) or (+44) (UK); fax: (+44) ; e-mail: . You may also complete your request on-line via the Elsevier website at Library of Congress Cataloging-in-Publication Data Core curriculum for maternal-newborn nursing/edited by Susan Mattson, Judy E. Smith. – 4th ed. p. ; cm. Includes bibliographical references and index. ISBN 978-1-4377-1576-7 (hardcover : alk. paper) 1. Maternity nursing—Outlines, syllabi, etc. 2. Nursing—Study and teaching—Outlines, syllabi, etc. I.Mattson, Susan. II. Smith, Judy E. [DNLM: 1. Maternal-Child Nursing—Outlines. 2. Curriculum—Outlines. WY 18.2 C7965 2011] RG951.N33 2011 618.2’0231—dc22 Executive Editor: Robin Carter Managing Editor: Laurie K. Gower Publishing Services Manager: Jeff Patterson Project Manager: Jeanne Genz Design Direction: Charlie Seibel Printed in the United States of America Last digit is the print number: 9 8 7 6 5 4 3 2 Linda Bond, PhD, RNC Professor Emerita, Kirkhof College of Nursing Grand Valley State University Allendale, Michigan Beverly Bowers, PhD, RN, CNS Associate Professor, College of Nursing University of Oklahoma Health Sciences Center Oklahoma City, Oklahoma Linda Callahan, CRNA, PhD Professor, School of Nursing California State University—Long Beach Long Beach, California Natalie Diane Cheffer, PhD, RN, CPNP Associate Professor, Department of Nursing California State University—Long Beach Long Beach, California Catherine R. Coverston, PhD, RNC Associate Professor, College of Nursing Brigham Young University Provo, Utah Dustine Dix, RN, MSN Clinical Assistant Professor, School of Nursing University of North Carolina—Chapel Hill Chapel Hill, North Carolina Makeba B. Felton, RN, MSN, FNPC, WHNP Clinical Assistant Professor College of Nursing and Healthcare Innovation Arizona State University Phoenix, Arizona S. Kim Genovese, PhD, MSN, MSA, RN-BC Executive Director, Nursing 2000 North, Inc. La Porte, Indiana Elizabeth Gilbert, RNC, MS, FNP-BC, CNS Director of Professional Practice Banner Thunderbird Medical Center Glendale, Arizona Whitney Hardy, RN, BS Staff Nurse, Neonatal Intensive Care Unit CJW Medical Center, Chippenham Campus Richmond, Virginia Denise G. Link, PhD, WHNP, CNE, FNAP Associate Dean, Clinical Practice and Community Partnerships College of Nursing and Healthcare Innovation Arizona State University Phoenix, Arizona Susan Mattson, RNC-OB, CTN, PhD, FAAN Professor Emerita College of Nursing and Healthcare Innovation Arizona State University Phoenix, Arizona Jacqueline M. McGrath, PhD, RN, FNAP, FAAN Associate Professor, School of Nursing Department of Family and Community Health Virginia Commonwealth University Richmond, Virginia v vi CONTRIBUTORS Barbara A. Moran, PhD, CNM, FACCE Assistant Professor, School of Nursing The Catholic University of America Washington, DC Susan Saffer Orr, PT, PCS, IBCLC Lactation Consultant Torrance Memorial Medical Center Torrance, California; Columbia Pediatrics Long Beach, California Debra Ann Rannalli, RN, MSN, CPNP Lecturer California State University—Long Beach Long Beach, California Children’s Hospital—Los Angeles Los Angeles, California Kathryn Records, PhD, RN Associate Professor Core Director, Research Mentoring and Collaboration College of Nursing and Healthcare Innovation Arizona State University Phoenix, Arizona Mary Ann Rhode, RN, MS, CNM Clinical Practice Coordinator Exempla Certified Nurse-Midwives Exempla Saint Joseph Hospital Denver, Colorado Charlotte Stephenson, RN, DSN, CLNC Clinical Professor, Nelda C. Stark College of Nursing Texas Woman’s University Houston, Texas Judy E. Smith, PhD, RNC-WHNP Professor, Department of Nursing California State University—Long Beach Long Beach, California Keiko L. Torgersen, BSN, MS, RNC Perinatal Educator MatSu Regional Medical Center Palmer, Alaska Gail M. Turley, MSN, RNC-OB, NEA-BC Administrative Director, Nursing Services Crozer-Chester Medical Center Upland, Pennsylvania Lucy R. Van Otterloo, RNC, MSN Assistant Professor, Department of Nursing California State University—Long Beach Long Beach, California Connie Sampson von Köhler, RNC-OB, MSN, C-EFM, CPHQ Clinical Nursing Instructor Long Beach Memorial Medical Center/ Miller Children’s Hospital Adjunct Faculty, School of Nursing California State University—Long Beach Long Beach, California Tamara Whitmer, MS, NPD, RN-BC Clinical Educator, Women’s Center Banner Desert Medical Center Mesa, Arizona Margaret Yancy, RN, MS, WHNP, ANP-C Clinical Associate Professor Advanced Practice Nursing of Adults in Primary Care College of Nursing and Healthcare Innovation Arizona State University Phoenix, Arizona Beverly Bowers, PhD, RN, CNS Associate Professor, College of Nursing University of Oklahoma Health Sciences Center Oklahoma City, Oklahoma Kathleen Haubrich, PhD, RN Associate Professor, Department of Nursing Miami University—Hamilton Campus Hamilton, Ohio Janet Massoglia, BSN, MSN, FNP Instructor, Department of Nursing Delta College University Center, Michigan Administrator, VA Health Care Saginaw, Michigan Barbara Pascoe, RN, BA, MA Director, The Family Place Concord Hospital Concord, New Hampshire Danielle Patrick, MSN, RN, WHCNP OB/GYN Nurse Practitioner Today’s Women’s Health Specialists Chandler, Arizona JoAnne M. Pearce, RNC, MS, FNP-C ADRN Instructor, College of Technology Idaho State University Pocatello, Idaho Elizabeth J.W. Scott, RN, MSN Lead Clinical Development Specialist Erlanger Health System Chattanooga, Tennessee Charlotte Stephenson, RN, DSN, CLNC Clinical Professor, Nelda C. Stark College of Nursing Texas Woman’s University Houston, Texas Sandra L. Walker, PhD, RN Instructor, ADN Program Southwest Georgia Technical College Thomasville, Georgia Sarah E. Whitaker, DNS, RN Program Director, Nursing Dona Ana Community College at New Mexico State University Las Cruces, New Mexico vii This book is intended to be used by practicing nurses for several purposes. First, it can be a study guide for those wishing to sit for certification examinations in maternal-newborn nursing. Basic and complex information is presented and accompanied by an extensive reference list to augment the knowledge base. Second, the text may be used by development personnel and educators as an orientation for new staff, a source of information for nurses entering or returning to maternal-newborn nursing, and a reference for nurses on those units. Third, this book can be a classroom text, particularly for students requiring a resource or reference. It is not designed to be a primary text for undergraduate students, but it could be a resource for those graduate students in women’s health nurse practitioner programs who want to review some of the material relating to pregnancy that will be needed for their practice. This edition has several significant changes that should make the book more usable for a wider audience yet keep the content directed toward the original audience. We carried forward the changes regarding complications of the newborn from the 3rd edition, in that most of the content is integrated into those chapters dealing with maternal complications, with reference to how the condition affects the fetus or neonate. This will make it easier for the maternal-newborn or LDR nurse to identify the high-risk infant and the care required until the baby stabilizes or can be transferred (if necessary). Theoretical information about the continued care of high- risk neonates with selected conditions has also been reconfigured into one chapter titled “The Newborn at Risk.” The information is included to provide a basis from which the maternal- newborn nurse may give answers to parents’ questions and provide anticipatory guidance to new parents of sick neonates. A change for the 4th edition has been the deletion of nursing diagnoses as a basis for interventions. It became apparent that using that approach led to repetitiveness in each chap- ter. Additionally, certain terminology fits more appropriately in some settings than in others and can be used to express the needs of a partic- ular client at that time. Core curriculum for acute care maternity nursing did not seem to be one of those settings in most cases. The new format of the book is one of assessment/clinical practice and interventions, with continued use of a sec- tion for health education, and the case studies and questions. We hope this text will be helpful to those of you using it for all purposes. Its editing contin- ues to be an educational and a character-building experience for us both. Susan Mattson Judy E. Smith viii We would like to acknowledge the contributors to the previous edition: Linda Bond, PhD, RNC Physiology of Pregnancy Linda Callahan, CRNA, PhD Genetics Fetal and Placental Development and Functioning Surgery in Pregnancy Natalie Diane Cheffer, RN, CPNP, PhD Adaptation to Extrauterine Life and Immediate Nursing Care Newborn Biologic/Behavioral Characteristics and Psychosocial Adaptations Diana E. Clokey, MS, RD, RPh, CDE Endocrine and Metabolic Disorders Catherine R. Coverston, PhD, RNC Psychology of Pregnancy Sandra L. Gardner, RN, MS, CNS, PNP Ethics Elizabeth Gilbert, RNC, MS, CFNP Labor and Delivery at Risk Starre Haney, RN, MS, TNCC-I, ENPC Trauma in Pregnancy Patricia Grant Higgins, PhD, RN, BSHEd, BSN, MN Postpartum Complications Marcia Liden Jasper, BSN, MS, RNC Antepartum Fetal Assessment Denise G. Link, RNC, DNSc Reproductive Anatomy, Physiology, and the Menstrual Cycle Family Planning Susan Mattson, PhD, RNC-OB, CTN, FAAN Ethnocultural Considerations in the Childbearing Period Intimate Partner Violence Jacqueline M. McGrath, PhD, RN, NNP, CCNS Identification of the Sick Newborn Barbara A. Moran, MS, MPH, CNM Maternal Infections Substance Abuse in Pregnancy Susan Saffer Orr, PT, CLC, IBCLC Breastfeeding Judith H. Poole, PhD, BSN, BA, MN Hypertensive Disorders in Pregnancy Hemorrhagic Disorders Margaret A. Putman, RN, MS, NNP Risks Associated with Gestational Age and Birth Weight Debra Ann Rannalli, RN, PNP, MSN Newborn Biologic/Behavioral Characteristics and Psychosocial Adaptations Janet Scoggin, PhD, CNM Physical and Psychologic Changes Judy E. Smith, PhD, RNC-WHNP Age-Related Changes Kathleen V. Smith, RNC, BSN, MSN Normal Childbirth ix x ACKNOWLEDGMENTS Keiko L. Torgersen, BSN, MS, RNC Intrapartum Fetal Assessment Gail M. Turley, RNC, MSN, CNAA Essential Forces and Factors in Labor Cheryl Wallerstedt, MS, RNC, IBLCE, FACCE Endocrine and Metabolic Disorders Roxena Wotring, RN, MS Environmental Hazards Margaret Yancy, RN, MS, WHNP, ANP-C Other Medical Complications SECTION ONE REPRODUCTION: FETAL AND PLACENTAL DEVELOPMENT, 1 1Reproductive Anatomy, Physiology, and the Menstrual Cycle, 3 DENISE G. LINK 2Genetics, 20 LINDA CALLAHAN 3Fetal and Placental Development and Functioning, 35 LINDA CALLAHAN SECTION TWO NORMAL PREgNANCY, 59 4Ethnocultural Considerations in the Childbearing Period, 61 SUSAN MATTSON Appendix 4-1 Quick Reference Guide to Ethnocultural Differences, 75 5Physiology of Pregnancy, 80 LINDA BOND 6Psychology of Pregnancy, 101 CATHERINE R. COVERSTON SECTION THREE 9 Environmental Hazards, 163 BEVERLY BOWERS SECTION FOUR INTRAPARTUM PERIOD, 189 10Essential Forces and Factors in Labor, 191 GAIL M. TURLEY 11Normal Childbirth, 225 MAKEBA B. FELTON 12Intrapartum Fetal Assessment, 248 KEIKO L. TORGERSEN SECTION FIVE POsTPARTUM PERIOD, 299 13Physical and Psychologic Changes, 301 TAMARA WHITMER 14Breastfeeding, 315 SUSAN SAFFER ORR 15Contraception, 335 DENISE G. LINK SECTION SIX THE NEWBORN, 343 JACQUELINE M. MCGRATH AND xii CONTENTS SECTION SEVEN COMPLICATIONs OF CHILDBEARINg, 415 18Intimate Partner Violence, 417 KATHRYN RECORDS 19Hypertensive Disorders in Pregnancy, 432 DUSTINE DIX 20Maternal Infections, 449 BARBARA A. MORAN 21Hemorrhagic Disorders, 478 S. KIM GENOVESE 22Endocrine and Metabolic Disorders, 500 LUCY R. VAN OTTERLOO 23Trauma in Pregnancy, 535 LUCY R. VAN OTTERLOO 24 Surgery in Pregnancy, 556 LINDA CALLAHAN 25Substance Abuse in Pregnancy, 573 BARBARA A. MORAN 26Other Medical Complications, 587 MARGARET YANCY 27Labor and Delivery at Risk, 624 ELIZABETH GILBERT 28Postpartum Complications, 650 MARY ANN RHODE SECTION EIGHT ETHICs AND IssUEs, 667 29Ethics, 669 CHARLOTTE STEPHENSON Core Curriculum for Maternal- Newborn Nursing SECTION ONE REPRODUCTION: FETAL AND PLACENTAL DEVELOPMENT CHAPTER 1 Reproductive Anatomy, Physiology, and the Menstrual Cycle Denise G. Link OBJECTIVES 1.Identify and locate the female organs of reproduction. 2.Describe the physiologic functioning of the female reproductive system. 3.Identify the parameters of sexual maturation and menstruation, including cycle interval, duration of menstrual flow, and perimenopause. 4.Describe the physiologic changes in the ovaries, uterus, and cervix that occur during the menstrual cycle. 5.Explain the physiologic pathways of the hypothalamic-pituitary-ovarian axis and their relationship to the normal menstrual cycle. 6.Describe variations in anatomy that affect reproduction. 7.Describe variations in physiology that affect reproduction. 8.Identify the common variations in the menstrual cycle. 9.Analyze the data from a reproductive history and physical examination to determine overt and covert anatomic and physiologic factors that could affect pregnancy. 10.Prepare a set of nursing interventions for teaching pertinent concepts of anatomy and physiology to clients. INTRODUCTION Female Organs of Reproduction A.External genitalia: Vulva (Figure 1-1) 1.Mons pubis (or mons veneris) a.A rounded pad of subcutaneous fatty tissue over the symphysis pubis; covered with pubic hair b.Function is the protection of the symphysis pubis during intercourse. 2.Labia majora a.Two rounded folds of fatty and connective tissues, covered with pubic hair, that extend from the mons pubis to the perineum b.Function is the protection of the vaginal introitus. 3.Labia minora a.Narrow folds of hairless skin located within the labia majora; begin beneath the clitoris and extend to the fourchette. b.Highly vascular and rich in nerve supply; glands lubricate the vulva c.Function is erotic; swell in response to stimulation and are highly sensitive. 4.Prepuce of clitoris is a hoodlike covering over the clitoris. 5.Clitoris a.An erectile organ located beneath the pubic arch that consists of shaft and glans b.Secretes smegma, a pheromone (olfactory erotic stimulant) c.Extremely sensitive to touch, pressure, and temperature d.Function is sexual stimulation. 3 FIGURE 1-1 ■ Female external genitals. 6.Vestibule a.An oval-shaped area whose boundaries are the clitoris, fourchette, and labia minora; contains the following: (1)Urethral meatus (a)The terminal portion of the urethra, with puckered or slit appearance (b)Located 2.5 cm (1 inch) below the clitoris (2)Skene’s glands (a)Located inside the urethral meatus (b)Produce mucus for lubrication (3)Hymen (a)Tough, elastic, perforated, mucosa-covered tissue that forms a rim around the internal perimeter of the vaginal introitus (b)Hymenal opening might be absent or small, impeding menstrual flow and intercourse. (c)Characteristics of the hymen vary widely among women; the presence or absence of the hymen can neither confirm nor rule out sexual experience. (4)Bartholin’s glands (a)Located at the base of each of the labia minora, just inside the vaginal orifice (b)During coitus, secrete mucus that creates a favorable environment for sperm 7.Fourchette is a point located midline below the vaginal opening where the labia majora and labia minora merge. 8.Perineum a.Skin-covered muscular tissue located between the vaginal opening and the anus b.The area of a midline episiotomy c.Might be lacerated during childbirth. B.Internal organs (Figure 1-2) 1.Vagina a.A hollow tubular structure located behind the bladder and in front of the rectum; extends from the introitus to the cervix b.Thin-walled; composed of smooth muscle; capable of great distention as well as collapse c.Lined with a glandular mucous membrane that is arranged in folds called rugae Ovarian vessels Fallopian tube Ovarian ligament Fundus of uterus Fallopian tube Suspensory ligament Fimbria Ovarian ligament Ovary Uterine blood vessels Broad ligament Round ligament of uterus Vaginal fornix Vagina Body of uterus Isthmus Internal os Cervical canal External os Cervix Round ligament of uterus FIGURE 1-2 ■ Female reproductive organs. Front uterine wall has been removed so that the fallopian tube, uterus, cervical canal, and vagina are seen as a continuous channel. (From Langley, L.L., Telford, I.R., & Christensen, J.B. [1980]. Dynamic anatomy and physiology. New York: McGraw-Hill.) d.Highly vascular and relatively insensitive; adds little sensation for the female during coitus e.Functions as the outflow track for menstrual fluid and for vaginal and cervical secretions, the birth canal, and the organ for coitus 2.Uterus a.Located behind the symphysis pubis between the bladder and the rectum b.Muscular, hollow, smooth, mobile, nontender, firm, and symmetric c.In a woman who has not been pregnant, uterine size ranges from 5.5 to 8 cm (2.2 to 3.2 inches) long, 3.5 to 4 cm (1.4 to 1.6 inches) wide, and 2 to 2.5 cm (0.8 to 1 inch) deep; size increases after childbirth. d.Is similar in shape to a light bulb or pear e.Is a single organ composed of four distinct areas: (1)Fundus (a)The upper, rounded portion above the insertion of the fallopian tubes (b)Beginning at the 20th week of pregnancy, uterine size is measured in centimeters from the height of the fundus to the top of the symphysis pubis. (2)Corpus (or body) is the main portion of the uterus, located between the cervix and the fundus. (3)Isthmus (a)Also called the lower uterine segment during pregnancy (b)Joins the corpus to the cervix (4)Cervix (or opening of the uterus) (a)Divided into two portions: the portion above the site of attachment of the cervix to the vaginal vault is called the supravaginal portion; the portion below the attachment site that protrudes into the vagina is called the vaginal portion. (b)Composed of fibrous connective tissue (c)Diameter varies from 2 to 5 cm (0.8 to 2 inches), depending on childbearing history. (d)Length is usually 2.5 to 3 cm (1 to 1.2 inches) in a nonpregnant woman. (e)Vaginal portion is smooth, firm, and doughnut shaped, with visible central opening called the external os. (f)Internal os is the opening of the cervix inside the uterine cavity. (g)Cervical canal forms the passageway between the external os of the cervix and the uterine cavity; major feature is the ability to stretch to a diameter large enough to allow passage of an infant’s head and then to return to a closed position. (h)Produces mucus in response to cyclic hormones; thickened cervical mucus can impede the passage of sperm and bacteria; thin cervical mucus facilitates the movement of sperm and prolongs sperm life; observation of changes in cervical mucus is important in fertility awareness methods of family planning. (i)At maturity the cervical vaginal surface is covered with squamous epithelium; cervical canal is lined with columnar epithelium. [i]Area where two types of epithelium meet is called the squamocolumnar (SC) junction; also called the transformation zone or T-zone. [ii]Prior to puberty, the cervix is covered with columnar epithelium, and the SC junction is located on the outer surface of the cervix. [iii]Beginning at puberty, under the influence of estrogen, the SC junction gradually recedes back toward the external os, with squamous epithelium replacing the columnar epithelium. [iv]The SC junction is the most frequent site of changes associated with the devel- opment of cervical cancer; cells from the SC junction and other areas of the cervix are assessed via the Papanicolaou (Pap) test. f.Uterine position (Figure 1-3) (1)Five positions are possible (a)Anteflexed (b)Anterior (anteverted) (c)Midposition (d)Posterior (retroverted) (e)Retroflexed g.Uterine support (see Figure 1-2) (1)Anterior ligament extends from the anterior cervix to the bladder. (2)Cardinal (transverse) ligaments (a)Portion of the broad ligaments (b)Contain uterine blood vessels and ureters (c)Connected to the lateral margins of the uterus (3)Posterior ligament extends from the posterior cervix to the rectum. (4)Uterosacral ligaments (a)Extend from the cervix over the rectum to the sacral vertebrae (b)Maintain traction on the cervix to hold the uterus in position h.Uterine wall (1)Composed of three layers (a)Endometrium is a highly vascular mucous membrane that responds to hormone stimulation first by hypertrophy and then by secretion to prepare to receive the developing ovum; sloughs if pregnancy does not occur, resulting in menstruation; if pregnancy occurs, sloughs after delivery. (b)Myometrium is composed of smooth muscle in layers. FIGURE 1-3 ■ Uterine positions. [i]Outer layer is composed of longitudinal fibers, which predominate in the fundus and provide power to expel the fetus. [ii]Middle layer is composed of fibers interlaced with blood vessels in a figure- eight pattern; contraction following childbirth helps control blood loss. [iii]Inner layer is composed of circular fibers concentrated around the internal cervical os; provides sphincter action to help keep the cervix closed during pregnancy. (c)Parietal peritoneum covers most of the uterus, except for the cervix and a portion of the anterior corpus. 3.Fallopian tubes or oviducts (see Figure 1-2) a.Attached to the uterine fundus and curve around each ovary b.Provide a passageway for the ovum into the uterus c.10 cm (4 inches) in length and 0.6 cm (0.25 inch) in diameter d.Composed of four parts (1)Infundibulum: the most distal portion; funnel-shaped; covered with fimbriae that guide the ovum into the tube by creating a wavelike motion (2)Ampulla: next most distal portion of the fallopian tube and site of fertilization (3)Isthmus: narrowed part of the fallopian tube; closest to the uterus (4)Interstitial: narrowest portion, which passes through the uterine myometrium and opens into the uterine cavity e.Functions (1)Capture of the ovum (2)Transport of the ovum into the uterus via peristaltic activity and wavelike motion of the cilia that line the fallopian tube (3)Secretion of nutrients to support the ovum during transport 4.Ovaries (female gonads) (see Figure 1-2) a.Comparable with the testes in the male b.Located on either side of the uterus, below and behind the fimbriated ends of the oviducts c.Supported by the ovarian ligaments and the mesovarian portion of the broad ligament d.Similar to shelled almonds in size and shape; smooth, mobile, slightly tender, and firm e.Functions include ovulation and production of hormones (estrogen, progesterone, and androgens). C.Support for organs of reproduction 1.Circulation a.Blood is supplied to the pelvis by arteries branching from the hypogastric artery (which branches from the iliac artery, a division of the aorta). b.Major pelvic arteries include the uterine, vaginal, pudendal, and perineal arteries. c.Ovarian arteries branch directly from the aorta. d.Lymphatic drainage is accomplished from the uterus, ovaries, and fallopian tubes to nodes around the aorta, with some use of the femoral, iliac, and hypogastric nodes. 2.Pelvic floor and perineum a.Functions (1)Support of the suspended internal organs of reproduction (2)Support for sphincter control, allowing for expansion of the vagina with expulsion of the fetus, and closure of the vagina after delivery b.Pelvic diaphragm (Figure 1-4) (1)Levator ani muscles (a)Puborectalis (b)Iliococcygeus (c)Pubococcygeus (2)Coccygeal muscles c.Urogenital diaphragm (see Figure 1-4): transverse perineal muscles d.Perineum (see Figure 1-4) (1)Bulbocavernosus muscle (2)Ischiocavernosus muscle (3)Anal sphincter muscle (4)Perineal strength can be increased through pelvic floor (Kegel) exercises. Bulbocavernosus muscle Urethral opening Vagina Bulb of vestibule Inferior ramus of ischium Connective tissue Ischial Adductor longus muscle Ischiocavernosus muscle Superficial transverse perineal muscle Pubococcygeus tuberosity Pudendal vessels External anal sphincter muscle Iliococcygeus muscle Gluteus maximus muscle Levator ani Coccyx FIGURE 1-4 ■ Muscles of the pelvic floor, from below. (From Sloane, E. [2002]. Biology of women [4th ed.]. Albany, NY: Delmar.) FIGURE 1-5 ■ Female bony pelvis. e.Perineal body (1)Wedge-shaped area between the vagina and the rectum (2)Anchor point for muscles, ligaments, and fascia of the pelvis 3.Bony pelvis (Figure 1-5) a.Functions include support and protection of pelvic structures, and support for a growing fetus during gestation. b.Components include: (1)Ilium (a)Iliac crests (b)Anterior, superior iliac spines False pelvis Linea terminalis True pelvis FIGURE 1-6 ■ True pelvis and false pelvis divided by the linea terminalis. (From Ross Laboratories. Clinical Education Aid No. 18, Columbus, OH.) (2)Ischium (a)Ischial spines (b)Ischial tuberosities (3)Pubic bone (a)Symphysis pubis joint (b)Subpubic arch (4)Sacrum; sacral promontory (5)Coccyx c.Ilium, ischium, and pubic bones fuse after puberty; the pelvic bone then is called the right or left innominate bone. d.False pelvis (Figure 1-6) (1)Area of the pelvis above the anterior, superior iliac spines (2)Provides no useful data for estimating the size of the birth canal e.True pelvis (see Figure 1-6) (1)Composed of three pelvic planes (a)Pelvic inlet is bordered by anterior and superior iliac spines and the sacral promontory. (b)Midpelvis is the area between the inlet and the outlet. (c)Pelvic outlet is bordered by ischial tuberosities and the coccyx. 4.Nervous innervation a.Motor nerves (1)Parasympathetic fibers from the sacral nerves stimulate pelvic vasodilation and inhibit uterine contractions. (2)Sympathetic motor nerves from ganglia between T-5 and T-10 stimulate pelvic vasoconstriction and uterine contractions. b.Sensory nerves (1)Fibers from ovaries and uterus transmit pain sensations to the spinal cord at T-11 to L-1. (2)Pain in ovaries, oviducts, and uterus is difficult to differentiate; might be felt in flank, inguinal, vulvar, or suprapubic area. D.Menstruation 1.Menarche (onset of the first menstrual period) normally occurs between the ages of 9 and 16 years, with a mean age of 12.8 years in the United States. 2.Menstrual cycles in the first 2 years postmenarche tend to be irregular; irregular menstrual cycles are associated with irregular ovulation. 3.Menstrual cycles are timed from the first day of menstrual bleeding; the first day of bleeding is marked as day 1 of the cycle. 4.Menstrual cycle length ranges normally from 21 to 36 days; 95% of women have a cycle length between 25 and 32 days. 5.Duration of bleeding ranges from 1 to 8 days; most women report a menstrual flow that lasts from 3 to 5 days. 6.Amount of blood lost averages 30 mL (1 ounce) per menstrual period; a normal range is between 20 and 80 mL (2⁄3 and 22⁄3 ounces). 7.The perimenopausal transition occurs between the ages of 35 and 60 years. Cessation of menses (menopause) is one event that occurs during the perimenopausal transition. The average age for menopause in the United States is 51 years. 8.The menstrual cycle is divided into two phases a.Follicular phase (1)Starts with day 1 of menses (2)Multiple follicles are maturing in the ovary; the terms primary or dominant describe the follicle selected for maturation during this cycle. (3)Maturing follicle is called a graafian follicle. (4)Estrogen is produced in the follicles. (5)Follicular phase ends with the release of the egg from the mature follicle (ovulation). (6)Normal variation in length of this phase is 7 to 22 days (e.g., it would be 14 days in a 28-day cycle). (7)The endometrium is in the proliferative phase and thickens during this period of rapid growth. (8)At the end of this phase the external cervical os dilates slightly to admit sperm; the cervix becomes softer. (9)Cervix produces mucus that is thin, clear, slippery, stretchy, copious in quantity, and designed to aid sperm in passage through the cervix; the stretching property is called spinnbarkeit. (10)Ovulation usually occurs within 24 hours before, during, or after the last day of this slippery discharge. b.Luteal phase (1)Starts with ovulation (2)Follicle that releases the ovum becomes the corpus luteum. (3)Corpus luteum produces estrogen and progesterone. (4)Function ends in 14 days if conception does not occur. (5)Endometrium is in the secretory phase; increasingly vascular and filled with glandular secretions, ready to support a fertilized ovum. (6)If no conception occurs, the corpus luteum deteriorates, and levels of estrogen and progesterone decrease. (7)Menstruation begins, signaling the start of a new cycle. 9.Common deviations from normal in the menstrual cycle a.Amenorrhea: absence of menstrual periods; pregnancy is a common cause. (1)Primary amenorrhea (a)Failure of the onset of menstruation [i]By age 14 in the absence of secondary sex characteristics [ii]By age 16 in the presence of secondary sex characteristics (b)Might be due to chromosomal defects [i]Congenital agenesis of the ovaries or uterus [ii]“Streak” ovaries: nonfunctional; will not produce ova or the hormones necessary to initiate puberty (2)Secondary amenorrhea (a)Interruption of menses prior to age 40 in a previously menstruating woman (b)Absence of menses for 6 months or the equivalent of three cycles in a woman who does not menstruate every month. (3)Menarche usually requires a minimum height of 152.4 cm (5 feet) and a minimum weight of 47.5 kg (105 pounds), with a fat-to-lean ratio of 1:3; females with body fat levels less than 16% seldom menstruate. (4)Menarche delay is common in girls who are competitive athletes, who have eating disorders such as anorexia nervosa, or who participate in activities in which extreme thinness is valued, such as ballet and gymnastics; might lead to the development of osteoporosis if estrogen levels are consistently low for a prolonged period of time. b.Anovulatory cycles (1)Common in the early years following menarche and the years immediately preceding menopause (2)A graafian follicle matures and estrogen is produced, but ovulation does not occur. (a)Corpus luteum does not form and progesterone is not available. (b)Uterine lining thickens in response to estrogen. (c)Progesterone-induced signal to start and stop the menstrual flow is absent. (3)Might result in light, irregular menses, and difficulty in conceiving, or might result in frequent, prolonged, heavy menstrual flow. c.Inadequate (short) luteal phase (1)Corpus luteum stops producing hormones prematurely or produces inadequate levels of estrogen and progesterone. (2)Can lead to infertility (3)Can cause early pregnancy losses when progesterone levels are too low to support the pregnancy until the placental formation is complete E.The hypothalamic-pituitary-ovarian axis 1.Responsible for the control of the hormones that regulate function of the reproductive system 2.Sphenoidal sinus in the brain houses the pituitary gland; the hypothalamus is located directly above the pituitary gland. 3.Pituitary gland is divided into two parts: the anterior and the posterior; function and control of the two sections are separate and distinct. 4.Hypothalamus releases hormones (called releasing factors) into the hypophysial portal system that supplies the anterior pituitary; these hormones provide instructions to the anterior pituitary. 5.Releasing factors signal the anterior pituitary to produce hormones, which in turn stimulate certain target organs to produce hormones. 6.Releasing factors are produced by the hypothalamus in response to the decreasing levels of hormones being produced by the target organs; when the levels of hormones from the target organs increase, the hypothalamus responds by decreasing the releasing factor hormones sent to the anterior pituitary. 7.This type of system is called a feedback loop; when rising levels of target organ hormones result in a decrease in the releasing factor and stimulating hormones, the system is called a negative feedback loop. 8.Target organs include the ovaries, the thyroid, and the adrenal cortex. 9.Feedback loop functioning for the ovary a.During menstruation a message is sent through the central nervous system to the hypothalamus that circulating levels of estrogen are low. b.Hypothalamus responds by sending gonadotropin-releasing hormone to the anterior pituitary. c.Anterior pituitary responds by sending first follicle-stimulating hormone (FSH) and then luteinizing hormone (LH) to the ovary. d.Ovary responds to FSH by selecting a follicle for maturation and choosing from among several follicles that are undergoing early development and producing estrogen; the chosen follicle that begins to mature is called the graafian follicle. e.LH stimulates the graafian follicle to release the egg, and ovulation occurs; the graafian follicle becomes a corpus luteum, which produces estrogen and progesterone. f.There are now high circulating levels of estrogen and progesterone. (1)If conception does not occur, circulating levels of estrogen and progesterone gradually decrease as the corpus luteum disintegrates. (2)When estrogen levels are again low, menstruation begins, another message is sent to the hypothalamus, and the cycle begins again. CLINICAL PRACTICE A.Assessment 1.Subjective assessment (health interview or history) a.Health history, including previous or current factors that might affect reproductive function or affect pregnancy (1)Endocrine disorders (a)Hypothyroidism or hyperthyroidism (b)Hypertension (c)Diabetes mellitus (types 1 and 2; gestational diabetes) (d)Hyperparathyroidism (e)Adrenal disorders (2)Pelvic infection (a)Interferes with conception secondary to the formation of scar tissue in the fallopian tubes in response to inflammation (b)Can be asymptomatic (c)Infection and resultant scarring of the fallopian tubes, which leaves the oviducts blocked, is a major cause of infertility. (3)Endometriosis (a)May cause significant pain with menstruation and interfere with conception (b)Scar tissue is formed in response to inflammation and/or bleeding from ectopic endometrial implants (functioning endometrial tissue that has migrated outside of the uterus). (4)Uterine fibroids (a)Benign tumors that alter the shape of the uterus and its ability to expand (b)Might cause excessive menstrual bleeding (c)More common in women older than 35 b.Surgical history (1)Pelvic surgery (i.e., ovarian cystectomy or uterine myomectomy) increases risk of formation of adhesions that interfere with conception or maintenance of a pregnancy. (2)Repetitive dilation and curettage procedures in the uterus for diagnosis or pregnancy termination might result in the following: (a)Asherman syndrome [i]Uterine scar tissue forms, usually as a result of aggressive curettage. [ii]Scar tissue interferes with the normal cyclic changes in the endometrium (uterine lining) (b)Incompetent cervix [i]Due to repetitive, forced dilation of the cervix [ii]Cervix is unable to remain closed during pregnancy, which leads to sponta- neous abortion or preterm labor (see Chapter 24 for discussion of surgery as treatment for incompetent cervix). (3)A cone biopsy/cryosurgery, laser surgery to cervix, and loop electrosurgical excision procedure (LEEP) (a)Risk of scarring, which prevents conception (b)Risk of incompetent cervix c.Reproductive history (1)Puberty is characterized by developmental milestones that provide evidence that ovaries and uterus are present and functioning, such as the following: (a)Secondary sex characteristics, including breast development and the appearance of axillary and pubic hair (Tanner scale) (b)Menarche occurring before the age of 16 years (2)Menstrual history (a)Age at menarche (b)Date of the last menstrual period and determination of whether the last menstrual period was a normal one for the woman (c)The usual cycle length and the cycle length for this period (d)The usual duration of bleeding and the duration of bleeding for this cycle (e)Cramps [i]Present or absent [ii]Degree of interference with normal activities (f)Clots (g)Molimina symptoms [i]Defined as cyclic symptoms associated with menses [ii]Examples: premenstrual bloating, breast tenderness, and irritability [iii]Presence is due to estrogen and progesterone [iv]Molimina symptoms plus regular and normal menses imply a pattern of normal ovulation. (3)Reproductive functioning (a)Pregnancy history [i]Number of confirmed pregnancies: gravida [ii]Number of term pregnancies (pregnancies that lasted at least 37 weeks) [iii]Number of preterm pregnancies (confirmed pregnancies that ended between 20 and 37 weeks’ gestation) [iv]Number of confirmed pregnancies that ended before 20 weeks’ gestation: spontaneous and induced abortions [v]Number of children who are currently living [vi]Difficulty in conceiving [vii]Causes of pregnancy losses [viii]Problems in perinatal period [ix]Labor: preterm or prolonged [x]Delivery: type of anesthesia, episiotomy, vacuum extraction, or forceps used; cesarean birth [xi]Postpartum period: hemorrhage, infection, difficulty with healing of lacerations or episiotomy (e.g., fistula formation) d.Sociocultural history (1)Attitudes and values toward menstruation (a)Common cultural attitudes include menstruation as illness, as a state of uncleanliness, as a time of decreased competence, and as a time associated with fear of contamination. (b)Some American Indian cultures isolate a menstruating woman. (c)Orthodox Judaism requires a ritual bath after menstruation. (d)In post–World War II Japan, a policy of menstrual leave for “incapacitated” women was enacted. (e)In the United States and the United Kingdom, criminal court cases have been tried with defenses of diminished capacity from premenstrual syndrome as a plea for women accused of acts of violence. (2)Sexual practices that can lead to increased risk of pelvic infection and affect fertility (a)Multiple partners (b)Recent change in sexual partners (c)Failure to use a condom when indicated 2.Objective assessment (physical examination) a.General survey (1)Secondary sex characteristics: Tanner stages of development (Figure 1-7) (2)Pelvic examination (a)External genitalia [i]Structural abnormalities (i.e., evidence of female circumcision procedure common in some cultures) [ii]Evidence of infection, as signaled by discharge from glands [iii]Hymenal opening (b)Internal organs [i]Vagina •Color, integrity, and presence of discharge •Rectocele or cystocele is the herniation of the vaginal wall with the rectum or the bladder protruding into the vagina. •Uterine prolapse is the relaxation of vaginal support, with the uterus in the vagina. GIRLS HEIGHT SPURT GROWTH RATE Height 2 in/yr Weight 6 lb/yr PEAK Height 3 in/yr Weight 17.5 lb/yr AGE RANGE 11.5-16.5 yr MENARCHE BREAST Age Range 10-16.5 yr Average Height 62.5 in. (158.5 cm) Average Weight 106 lb (48 kg) Breast buds begin. AGE RANGE 8-13yr Breast and areola grow. Nipple and areola form separate mound, pro- truding from breast. Areola rejoins breast contour and development is complete. AGE RANGE 12.5-18.5 yr TANNER STAGE 2 3 4 5 PUBIC HAIR Initial hair is straight and fine. AGE RANGE 8-14yr Pubic hair coarsens, darkens, and spreads. Hair looks like adults, but limited in area. Inverted triangular pattern is established. AGE RANGE 12.5-16.5 yr AGE 11 years 12 years 13 years 14 years 15 years FIGURE 1-7 ■ Tanner maturity rating scale (female). (From Tanner, J.M. [1962]. Growth at adolescence [2nd ed.]. Oxford, UK: Blackwell Scientific Publications.) [ii]Cervix: parity and appearance •Structural abnormalities •Patency •Evidence of infection [iii]Uterus •Size, shape, consistency, and mobility •Position [iv]Adnexa •Size, shape, consistency, and mobility of ovaries •Oviducts usually not palpable. (c)Bony pelvis [i]Estimate of anteroposterior diameter of the pelvic inlet (i.e., the distance between sacral promontory and subpubic arch [12.5 to 13 cm]) [ii]Prominence of ischial spines and bispinous diameter (11 cm) [iii]Prominence of coccyx (see Chapter 10 for a complete discussion of pelvic measurements) 3.Diagnostic procedures a.Menstrual calendar b.Blood chemistry, including lipid levels c.Hemoglobin and hematocrit (1)Anemia might result from excessive menstrual blood loss. (2)Anemia is usually when hemoglobin levels are less than 12 g/dL and hematocrit levels are less than 37%. d.FSH and LH levels (1)Elevated when ovaries are not functioning normally with cyclic ovulation (2)FSH levels higher than 40 mIU/mL and LH levels higher than 25 mIU/mL are diagnostic for anovulation. (3)Normal levels of FSH are 5 to 30 mIU/mL and normal LH levels are 5 to 20 mIU/mL. (4)FSH level is a better indicator of ovarian function than gonadal hormone levels. e.Prolactin (1)Elevated levels block the action of estrogen. (2)Normal levels are 0 to 23 mg/dL. f.Thyroid function tests (1)Identify hyperthyroidism and hypothyroidism. (2)Normal nonpregnant values (a)Serum thyroxine (T4), 5 to 12 mcg/dL (b)Serum triiodothyronine (T3), 80 to 200 mg/dL (c)Thyroid-stimulating hormone, 2 to 5.4 mIU/mL g.Progesterone (1)Level is tested on menstrual cycle days 21 to 23 (28-day cycle). (2)Provides evidence of ovulation (3)Low levels after conception might lead to a spontaneous abortion. h.Testosterone and dehydroepiandrosterone sulfate (DHEAS) (1)Androgens are produced by the normal ovary and the adrenal gland. (2)High levels usually are associated with anovulation and amenorrhea. i.Endometrial biopsy (1)Evaluates the influences of hormones on the uterine lining (2)Is performed on days 21 to 23 of a 28-day cycle (3)Estrogen and progesterone, which are present after ovulation, produce the characteristic changes in the microscopic lining of the uterus. 4.Potential psychosocial responses to the reproductive assessment a.Concerns (1)Modesty (2)Feelings of invasion of privacy (3)Strangers invading privacy (4)Gender of examiner; same or different b.Meaning of examination for the woman c.Desire for assurances that all structures appear normal B.Interventions/Outcomes 1.Not knowledgeable about normal anatomy and physiology of the female reproductive system a.Interventions (1)Assess current level of understanding. (2)Identify inaccuracies or gaps in knowledge. (3)Identify the woman’s interest in increasing her knowledge. (4)Formulate a teaching plan. (5)Evaluate the effectiveness of the implemented plan. b.Outcomes (1)The woman will be able to explain anatomic or physiologic functioning in the areas in which previous inaccuracies or gaps were identified. (2)The woman will state that her learning needs were met. 2.Abnormal anatomic or physiologic status of the female reproductive system a.Interventions (1)Identify the specific alteration in function. (2)Identify the physiologic basis for the alteration in function. (3)Formulate a management plan with the woman. (4)Assess the woman’s level of understanding of the problem and plan of management. (5)Formulate a teaching plan to increase understanding. (6)Implement the management plan and the teaching plan. (7)Evaluate the effectiveness of the implemented plans. (8)Communicate the effectiveness to other members of the health care team. b.Outcomes (1)The woman will repeat an accurate description of the specific problem of alteration in functioning. (2)The woman will describe the proposed management plan accurately. (3)The woman will state that her health care needs were met. 3.Not knowledgeable about physical changes that occur during the normal menstrual cycle a.Interventions (1)Assess the current level of knowledge of the cyclic physical changes that occur in a normal menstrual cycle. (2)Provide necessary instruction for learning gaps that have been identified. (3)Reassess the level of knowledge of physical changes attributed to the menstrual cycle after instruction. b.Outcomes (1)The woman will be able to describe the timing of the physical changes that commonly occur during her menstrual cycle. (2)The woman will be able to identify whether those changes are within the normal range. (3)The woman will be able to identify changes in her menstrual cycle that require the attention of a health care professional. HEALTH EDUCATION Appropriate, age-specific, individualized instruction regarding reproductive anatomy and physiology should be presented by the health care provider. Health education about the menstrual cycle should also be provided according to an assessment of the current level of knowledge of the woman as well as her current level of understanding of the subject. The teaching plan should use the particular concerns of the woman or the particular details of her diagnosis to help her understand her own situation as well as the parameters of normal functioning. A.Identify the purpose of the instruction. B.Identify the characteristics of the learner. 1.Assess the current level of understanding. 2.Identify learning needs and preferred learning style of the woman. 3.Identify the woman’s level of comfort with the subject matter. 4.If in a group educational setting, identify the level of comfort of members of the group with each other. C.Choose an instructional method appropriate to the learning needs and comfort level of the participants. D.Develop a teaching plan. E.Implement the teaching plan. F.Evaluate the effectiveness of the teaching plan in terms of meeting the learning needs of the participants. G.Alter the teaching plan. H.Implement the alterations. I.Reevaluate the teaching plan. CASE STUDIES AND STUDY QUESTIONS An 18-year-old girl has decided to see a health care provider to find out “why I’m so slow in developing.” Her last physical examination was 5 years ago; she reports no serious illnesses and no operations. Her chief complaints are lack of breast development and delayed onset of men- struation. She is 156 cm (5 feet, 1 inch) tall and b.Should be treated when she decides to become sexually active c.Should be treated when she decides to become pregnant d.Does not require treatment because it will be broken when she has sexual inter- course weighs 48 kg (105 pounds). She states that she has never had a menstrual period, does not have to shave her underarms and legs, and has never had acne. Pertinent physical findings include an absence of secondary sex characteristics, includ- ing a lack of breast development and of axil- lary hair and pubic hair. A vaginal examination was attempted but not completed because of an imperforate hymen. The primary diagnosis is delayed puberty. 1.Further assessment and intervention for this client: a.Should be delayed because there is a wide variation in the onset of menses and breast development among young girls. b.Are necessary because the development of secondary sex characteristics and the onset of menstruation normally occur by the age of 16 years. c.Are not essential because breast develop- ment normally precedes menstruation by several years. d.Should focus on treatment of her imperfo- rate hymen. 2.Further studies reveal a chromosomal karyotype of XX, the presence of a very small uterus, and “streak” ovaries. Exogenous sources of estrogen and progesterone are recommended to trigger the onset of puberty for this young woman. She will need to take these hormones: a.Only until her own ovaries are stimulated to begin producing hormones b.Only until she decides to become pregnant c.Until well past the normal time for menopause because “streak” ovaries are nonfunctioning and will never produce the necessary hormones d.She will not need to take these hormones because her ovaries will begin function- ing soon. 3.The imperforate hymen: a.Must be treated because menstrual flow started by the use of hormone therapy can be trapped and prevented from exiting the vagina 4. This girl wants to know about her childbear- ing capabilities. She will: a.Be able to have as many children as she wishes as long as she takes the necessary hormones b.Need to use birth control to prevent unwanted pregnancies c.Not be able to become pregnant without donor eggs because “streak” ovaries are nonfunctioning and do not contain ova d.Not be able to become pregnant because of her imperforate hymen Mrs. A., 25 years old and married, wants to use the techniques of natural family planning to help her conceive. She had her first menstrual period at the age of 12 years. Her periods are regular, occur every 28 days, and last 4 to 5 days. She has no trouble with cramping or excessive flow. She has noticed breast tenderness, feelings of heavi- ness and bloating, and irritability in the few days before each period. She also notices an increase in her vaginal discharge in the middle of her cycle; the discharge is thin, slippery, stretchy, and clear. 5.She is probably experiencing: a.Regular ovulation because her periods are regular and she is experiencing normal moliminal symptoms b.A vaginal infection because of the repeti- tive discharge c.Anovulatory cycles because she is not having trouble with cramps or clots d.Some anovulatory cycles because her cycle length varies by a few days and is not always consistent 6.The breast tenderness, bloating, and irritabil- ity are due to: a.The effects of falling levels of estrogen during this phase of the cycle b.The effects of progesterone produced by the corpus luteum after ovulation occurs c.The effects of rising levels of testosterone during this phase of the cycle d.These symptoms have no relationship to the levels of hormones in the body. 7.Clear, slippery cervical mucus that occurs at midcycle has a quality of stretchiness called spinnbarkeit. This quality is associated with cervical changes, including: a.The opening of the cervical os to aid the sperm in moving into the uterus b.The closing of the cervical os to become more hostile to sperm c. The shortening of the cervix to prepare for cervical dilation in labor d.A maturation of the cervix that occurs after puberty ADDITIONAL STUDY QUESTIONS 8.All of the following are components of the external female genitalia except the: a.Vulva b.Vestibule c.Fourchette d.Vagina 9.The middle layer of the uterine myome- trium is composed of smooth muscle fibers in figure-eight patterns around major blood vessels. This is called a living ligature because: a.Contraction of these fibers after childbirth or an abortion helps prevent massive blood loss. b.These fibers provide support for the major blood vessels that innervate the uterus. c.These fibers contract before the placenta detaches from the uterine wall, thus preventing blood loss from the umbilical cord. 10.Which statement is not true for ovaries? a.Normally are the size of almonds in women during the reproductive years b.Are comparable to the testes in the male c.On examination, should be fixed and nonmobile d.Are responsible for the production of estrogen, progesterone, and the androgens 11.Which of the following uterine positions is considered abnormal? a.Anteflexed b.Anterior c.Posterior d.Retroflexed e.None of the above 12.Blocked oviducts are a major cause of infer- tility. They are most often the result of: a.Pelvic inflammatory disease b.Congenital abnormality c.Exposure to diethylstilbestrol (DES) d.Cone biopsy 13.Which of the following describes a menstrual cycle that is within the normal parameters? a.Age at menarche: 11 years; cycle length, 42 days; duration of menses, 3 days; blood loss, light b.Age at menarche: 8 years; cycle length, 28 days; duration of menses, 4 days; blood loss, heavy c.Age at menarche: 12 years; cycle length, 26 to 28 days; duration of menses, 5 days; blood loss, moderate d.Age at menarche: 12 years; cycle length, 14 days; duration of menses, 8 days; blood loss, heavy 14.During the menstrual cycle, the hormone progesterone is produced: a.Throughout the cycle b.From days 1 to 14 by the graafian follicle c.From days 14 to 28 by the graafian follicle d.Beginning just after ovulation by the corpus luteum ANSWERS TO STUDY QUESTIONS 1. b 6. b 11. e 2. c 7. a 12. a 3. a 8. d 13. c 4. c 9. a 14. d 5. a 10. c BIBLIOGRAPHY Berak, J. (Ed.). (2006). Berek & Novak’s gynecology (14th ed.). Philadelphia: Lippincott Williams & Wilkins. Bickley, L. S., & Szilagyi, P. G. (2008). Bates’s guide to physical examination and history taking (10th ed.). Philadelphia: Lippincott Williams & Wilkins. Guyton, A. C., & Hall, J. E. (2006). Textbook of medical physiology (11th ed.). Philadelphia: Saunders. Lowdermilk, D. L., & Perry, S. E. (2007). Maternity & women’s health care (9th ed.). St. Louis: Mosby. Speroff, L., & Fritz, M. (2004). Clinical gynecologic endocrinology and infertility (7th ed.). Philadelphia: Lippincott Williams & Wilkins. Thibodeau, G. A., & Patton, K. (2006). Anatomy and physiology (6th ed.). St. Louis: Mosby. Linda Callahan OBJECTIVES 1.Discuss the potential importance of the National Human Genome Project on patient care. 2.Define the terms commonly used in genetic conditions. 3.Describe the implications of an increased amount of chromosomal material, the deletion of genetic material, and the translocation process in chromosomal disorders. 4.Explain the basic mendelian modes of inheritance. 5.Identify client situations that indicate the need for a chromosomal analysis. 6.Assess the emotional effect on couples of the birth of an infant with a genetic disorder. 7.Discuss the responsibility and needed competencies of the nurse in initial counseling and referral of patients for further genetic testing and counseling. INTRODUCTION A.The National Human Genome Project 1.First discussed in the 1980s; officially completed in 2003 2.Goals included sequencing the entire human genome (achieved in April 2003), identifying human deoxyribonucleic acid (DNA) sequence variations, identifying and determining the function of individual genes, and studying the ethical, legal, and social implications of information and technologic outcomes of the Human Genome Project on human beings and society. 3.Increased understanding of the genotype has allowed: a.Development of targeted health promotion strategies b.Potential disease prevention c.Genotype-tailored drugs to optimize therapeutic effects while minimizing negative drug interactions and side effects d.Eventual correction of disease states by development of gene transfer technology (gene therapy) B.Definition: Genetics is a medical science concerned with the transmission of characteristics from parent to child (Nussbaum, McInnes, & Willard, 2007) 1.Gene: the basic hereditary unit; a DNA sequence required for production of a functional product, usually a protein 2.Genotype: an individual’s genetic makeup 3.Phenotype: the outward appearance or expression of the genes 4.Allele: an alternative form of a gene; the wild type, or major sequencing allele is the most common form of a gene found within a population 5.Mutation: a rare alternative form of an allele; occurs in less than 1% of the population 6.Polymorphism: a common alternative form of an allele; occurs in more than 1% of the population 7.Genome: complete DNA sequence containing all of the genetic information for an individual C.Foundation of inheritance 1.Cell division: all beings begin life as a single cell (zygote). The single cell continues to reproduce itself by the process of either mitosis or meiosis. a.Mitosis is the process of cell division in which new cells are made. The new cells have the same number and pattern of chromosomes as the parent cell (46 chromosomes comprising 44 autosomes and 2 sex chromosomes); mitosis occurs in five stages (Figure 2-1). 20 FIGURE 2-1 ■ The process of mitosis. (1)Interphase: before cell division, the DNA replicates itself (2)Prophase: the strands of chromatin shorten and thicken; the chromosomes reproduce; spindles appear, and the centrioles migrate to the opposite poles of the cell; the membrane separating the nucleus from the cytoplasm disappears (3)Metaphase: the chromosomes line up along the poles of the spindle (4)Anaphase: the two chromatids separate and move to the opposite ends of the spindle (5)Telophase: a nuclear membrane forms, the spindles disappear, and the centrioles relocate to the outside of the new nucleus; toward the end of this phase, the cells divide into two new cells, each with its own nucleus and each having the same number of chromosomes as the parent cell b.Meiosis is a process of cell division that occurs involving the sperm and ova and is known as gametogenesis; this process decreases the number of chromosomes by 50% (from 46 to 23 per cell) and occurs in two successive cell divisions (Figure 2-2) (1)The first division consists of four phases. (a)Prophase: the chromosomes move close together [i]Crossover of genetic material from each parent takes place at this time. [ii]Crossover accounts for the wide individual variation of features seen within same-parent siblings. (b)Metaphase: spindle fibers attach to separate chromosomes (c)Anaphase: intact chromosome pairs migrate to opposite ends of the cell (the distribution of maternal and paternal chromosomes is random) (d)Telophase: the cell divides into two cells, each with 50% (23) of the usual number of chromosomes (22 autosomes and 1 sex chromosome) (2)Second division (a)The chromatids of each chromosome separate and move to the opposite poles of each of the daughter cells. FIGURE 2-2 ■ The process of meiosis. (b)This is followed by each of the cells dividing into two cells, which results in four cells (spermatogenesis and oogenesis). [i]Spermatogenesis is continuous from puberty to senescence. [ii]Oogenesis is noncontinuous. •Begins in utero, and by the fifth intrauterine month, a full complement of pri- mary oocytes has been produced. •Primary oocytes are dormant until puberty, at which time one or two will com- plete the meiotic cycle each month during a woman’s reproductive years. (c)During the meiotic division, two of the chromatids might not move apart when the cell divides; this lack of separation is called autosomal nondisjunction; this is also the stage at which breakage can occur, resulting in abnormalities of chromosomal structure such as that producing cri du chat syndrome and Down syndrome (d)Thus meiosis mixes up the chromosomes and crossing over mixes up the genes within a chromosome. 2.Genetic information is present on the chromosomes (Jarvi & Chitzyat, 2008; Lashley, 2007; Nussbaum et al., 2007). a.Chromosomes are composed of DNA, a complex protein that carries the genetic information. b.DNA occurs as a double-stranded helix found in the cell nucleus. (1)Two long strands of DNA molecules are wound around each other. (2)The strands are linked by chemical bonds. (3)The strands are complementary. (4)The chains comprise sequences of four nitrogen base subunits (adenine, guanine, thymine, and cytosine). c.Genes are the smallest known unit of heredity. (1)Genes are present on the chromosomes and are made up of coding exons and noncoding introns. (2)Each gene codes for a particular cellular function, such as specific protein structure. (3)Genes occur in pairs (alleles) derived from the mother and father during reproduction. (4)Each gene has a specific location on the chromosomes. (5)Genetic errors often occur when there are changes, such as deletions, substitutions, or duplications in the location of the gene. 3.Chromosomes form a genetic blueprint that is composed of tightly coiled structures of DNA. a.Chromosomes are threadlike structures within the nucleus of the cell that carry the genes. b.Humans have 46 chromosomes in each body cell (22 pairs of autosomes and 1 pair of sex chromosomes [diploid]). c.Chromosomes have a primary central constriction called the centromere (Figure 2-3). (a)The short arm of the chromosome is designated by the letter p. (b)The long arm of the chromosome is designated by the letter q. d.The sex cells contain 23 chromosomes (haploid). e.Abnormalities of chromosome number are as follows (Lashley, 2005, 2007; Nussbaum et al., 2007): (1)Paired chromosomes fail to separate during cell division (nondisjunction). (2)If nondisjunction occurs during meiosis (before fertilization), the fetus usually will have abnormal numbers of chromosomes in every cell (trisomy or monosomy). (a)Trisomy is a product of the union between a normal gamete (egg or sperm) and a gamete that contains an extra chromosome. [i]The individual will have 47 chromosomes; one “pair” will have three chromo- somes instead of two. [ii]Examples of trisomies are Down syndrome (47, XY, +21 [the extra chromosome is in the 21st pair]); trisomy 18 (47, XX, +18); and trisomy 13 (47, XY, +13). (b)Monosomy is the product of a union between a normal gamete and a gamete with a missing chromosome. [i]The individual will have 45 chromosomes instead of 46. [ii]Monosomy of an entire autosome is incompatible with life. [iii]Complete monosomy of a sex chromosome is compatible with life; an example is a female with only one X chromosome (45, XO); known as Turner syndrome. (3)If nondisjunction occurs after fertilization, the fetus might have two or more chromosomes that evolve into more than one cell line (mosaicism), each with a different number of chromosomes (Lashley, 2007). (a)Different body tissues may have different chromosome numbers or a mixture of cells, depending on when the nondisjunction occurred. (b)Clinical signs and symptoms vary in mosaicism; they can be severe or inapparent, depending on the number and location of the abnormal cell line. f.Abnormalities in chromosome structure are as follows: (1)Abnormalities of the chromosomes involving only a part of the chromosome FIGURE 2-3 ■ The process of translocation. Detail shows chromosomal representation. (2)Abnormalities that can occur by translocation, by deletions, or by additions (Lashley, 2007) (a)Translocation occurs when the individual has 45 chromosomes, with one of the chromosomes fused to another chromosome (usually number 21 fused to number 14) (see Figure 2-3). [i]The person has the correct amount of chromosomal material (45, t[14q21q]), but it has been rearranged; this individual is known as a balanced translocation carrier. [ii]When such an individual and a structurally normal mate have a child, there is a possibility that the offspring: •Will receive the carrier parent’s abnormal 21/14 chromosome and a normal 14 and 21 from the other parent; thus the child will be a carrier. •Will receive the abnormal chromosome, plus a normal 21 from t