NURS 4150 Exam 2
What are the functions of the placenta? - ANS Excretion -Removing waste products from the fetus
Producing hormones that mature into fetal organs
What is the role of amniotic fluid? - ANS Will increase in volume as the pregnancy progresses Fetal stage,
will increase 10 mL/week 19 to 25 weeks' gestation, will increase 50 to 60 mL/week Approximately ONE
liter at term
What is the term for too-little amniotic fluid? - ANS oligohydramnios
<500 mL at term
What is the term for too-much amniotic fluid? - ANS hydramnios
>2,000 mL at term
What is autosomal dominant inheritance? - ANS One copy of abnormal gene is needed for phenotype
expression
Example: Huntington Chorea; Dwarfism; Marfan Syndrome, Osteogenesis Imperfecta
What is autosomal recessive inheritance? - ANS Both genes of pair must be abnormal for disorder to be
expressed
Example: PKU; Sickle Cell Anemia; Cystic Fibrosis
What is X-linked DOMINANT inheritance? - ANS One copy of mutated gene on the X chromosome is
needed for phenotype expression,
,Example: hypophosphatemia, Fragile X
What is X-linked RECESSIVE inheritance? - ANS Hemizygous males and homozygous females are affected
Example: color-blindness, hemophilia, and Duchenne Muscular Dystrophy
What are the type 2 carrier screening for single-gene disorders? - ANS Used to identify individuals who
have a gene mutation for a genetic condition but do not show symptoms of the condition because it is
an autosomal recessive inheritance
Examples: CF, Sickle cell disease, Tay-Sachs disease
What is genetic testing? - ANS the analysis of human DNA, RNA, chromosomes, and/or proteins to detect
abnormalities related to an inherited or medical condition
What is preconceptual testing? - ANS Done before conception:
Blood tests, preimplantation genetic diagnosis
Prenatal Testing- maternal/paternal
Blood test for various single gene disorders
What is prenatal testing? - ANS Testing on fetus before born
What are type 1 tests? - ANS *In clients with clinical symptoms or who have a family history of a genetic
disease*
Some of these genetic tests are prenatal tests or tests used to identify the genetic status of a pregnancy
at risk for a genetic condition.
, What are type 3 tests? - ANS Predictive testing
What is predisposition? - ANS Does not indicate a 100% risk of developing the condition
Example: Testing for a BRCA1 gene mutation to determine susceptibility to cancer breast
What is presymptomatic testing? - ANS If the gene mutation for HD is present, symptoms of HD are
certain to appear if the individual lives long enough
What is alhpa-fetoprotein? - ANS Blood sample to evaluate plasma protein that is produced by the fetal
liver, yolk sac, and gastrointestinal tract, and crosses from the amniotic fluid into the maternal blood
What is amniocentesis? - ANS Amniotic fluid aspirated from the amniotic sac/Procedure used to take out
a small sample of the amniotic fluid for testing
Safety concerns -infection, pregnancy loss, and fetal needle injuries
To perform chromosome analysis, DNA markers, viral studies, karyotyping, and tests -identify cystic
fibrosis, sickle cell trait or disease
What is the purpose of chorionic villus sampling? - ANS To detect fetal karyotype, sickle-cell anemia,
phenylketonuria, Down syndrome, sickle cell trait or disease, Duchenne muscular dystrophy, cystic
fibrosis, and numerous other genetic disorders
What are the risks of chorionic villus sampling? - ANS Infection
Miscarriage, about 1 in 300-500
Severe transverse limb defects
What are the functions of the placenta? - ANS Excretion -Removing waste products from the fetus
Producing hormones that mature into fetal organs
What is the role of amniotic fluid? - ANS Will increase in volume as the pregnancy progresses Fetal stage,
will increase 10 mL/week 19 to 25 weeks' gestation, will increase 50 to 60 mL/week Approximately ONE
liter at term
What is the term for too-little amniotic fluid? - ANS oligohydramnios
<500 mL at term
What is the term for too-much amniotic fluid? - ANS hydramnios
>2,000 mL at term
What is autosomal dominant inheritance? - ANS One copy of abnormal gene is needed for phenotype
expression
Example: Huntington Chorea; Dwarfism; Marfan Syndrome, Osteogenesis Imperfecta
What is autosomal recessive inheritance? - ANS Both genes of pair must be abnormal for disorder to be
expressed
Example: PKU; Sickle Cell Anemia; Cystic Fibrosis
What is X-linked DOMINANT inheritance? - ANS One copy of mutated gene on the X chromosome is
needed for phenotype expression,
,Example: hypophosphatemia, Fragile X
What is X-linked RECESSIVE inheritance? - ANS Hemizygous males and homozygous females are affected
Example: color-blindness, hemophilia, and Duchenne Muscular Dystrophy
What are the type 2 carrier screening for single-gene disorders? - ANS Used to identify individuals who
have a gene mutation for a genetic condition but do not show symptoms of the condition because it is
an autosomal recessive inheritance
Examples: CF, Sickle cell disease, Tay-Sachs disease
What is genetic testing? - ANS the analysis of human DNA, RNA, chromosomes, and/or proteins to detect
abnormalities related to an inherited or medical condition
What is preconceptual testing? - ANS Done before conception:
Blood tests, preimplantation genetic diagnosis
Prenatal Testing- maternal/paternal
Blood test for various single gene disorders
What is prenatal testing? - ANS Testing on fetus before born
What are type 1 tests? - ANS *In clients with clinical symptoms or who have a family history of a genetic
disease*
Some of these genetic tests are prenatal tests or tests used to identify the genetic status of a pregnancy
at risk for a genetic condition.
, What are type 3 tests? - ANS Predictive testing
What is predisposition? - ANS Does not indicate a 100% risk of developing the condition
Example: Testing for a BRCA1 gene mutation to determine susceptibility to cancer breast
What is presymptomatic testing? - ANS If the gene mutation for HD is present, symptoms of HD are
certain to appear if the individual lives long enough
What is alhpa-fetoprotein? - ANS Blood sample to evaluate plasma protein that is produced by the fetal
liver, yolk sac, and gastrointestinal tract, and crosses from the amniotic fluid into the maternal blood
What is amniocentesis? - ANS Amniotic fluid aspirated from the amniotic sac/Procedure used to take out
a small sample of the amniotic fluid for testing
Safety concerns -infection, pregnancy loss, and fetal needle injuries
To perform chromosome analysis, DNA markers, viral studies, karyotyping, and tests -identify cystic
fibrosis, sickle cell trait or disease
What is the purpose of chorionic villus sampling? - ANS To detect fetal karyotype, sickle-cell anemia,
phenylketonuria, Down syndrome, sickle cell trait or disease, Duchenne muscular dystrophy, cystic
fibrosis, and numerous other genetic disorders
What are the risks of chorionic villus sampling? - ANS Infection
Miscarriage, about 1 in 300-500
Severe transverse limb defects
