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Terms in this set (109)
Congenital Disorders Present from birth; literally “with birth.”
Typically due to anatomic malformation or
structural/functional/metabolic abnormality.
May be isolated or part of a syndrome (e.g., cleft
lip/palate associated with genetic syndromes).
(added emphasis).
Majority with a complex etiology
Often detected prenatally on growth ultrasound
(2nd trimester), sometimes confirmed by invasive
testing (e.g., amniocentesis).
Acquired Disorders Picked up after birth – something that “happens
along the way during the lifetime,” most often in
intrapartum or immediate newborn period.
Frequently related to events in pregnancy/birth:
chorioamnionitis, forceps/vacuum use, birth trauma,
maternal diabetes, SUD, etc., but sometimes no clear
cause.
,Congenital Conditions Cardiac: congenital heart defects (CHD). Septal Wall
defects, Obstruction defects, Cyanotic heart lesions,
Defects of the great vessels
CNS: neural tube defects (anencephaly, spina
bifida), microcephaly, hydrocephalus.
Airway/lung: choanal atresia, congenital
diaphragmatic hernia (CDH).
Face & GI: cleft lip/palate, esophageal atresia &
tracheoesophageal fistula (EA/TEF), omphalocele,
gastroschisis, imperforate anus.
GU: hypospadias/epispadias, bladder exstrophy.
Musculoskeletal: congenital clubfoot,
developmental dysplasia of the hip (DDH).
Metabolic: inborn errors of metabolism (PKU,
MSUD, galactosemia, congenital hypothyroidism,
etc.).
Types of Congenital Heart Disease Septal wall defects (e.g., atrial and ventricular septal
defects).
Obstruction defects (e.g., coarctation of aorta,
pulmonary stenosis).
Cyanotic heart lesions (e.g., tetralogy of Fallot,
transposition of great arteries).
Defects of the great vessels (e.g., Transposition of
the great arteries, truncus arteriosus, total
anomalous pulmonary venous return).
,Screening for Critical Congenital Non‑invasive screening using pulse oximetry.
Heart Disease
Performed at 24-48 hours of age.
Sites: right hand (pre‑ductal) and one foot
(post‑ductal).
Passing Screening for Critical Oxygen saturation ≥ 95% in both extremities and ≤
Congenital Heart Disease 3% difference between hand and foot.
Failed Screening for Critical (requires further evaluation, usually echocardiogram
Congenital Heart Disease and cardiology consult):
Any saturation < 90% in either extremity.
Three separate readings (≥1 hour apart) < 95% in
hand and/or foot.
Three readings with > 3% absolute difference
between hand and foot.
Neural Tube Defects Congenital central nervous system defects involving
the brain and/or spinal cord.
Major Forms:
Anencephaly.
Spina bifida (occulta and cystica/aperta).
Result from failure of neural tube to close by about
5th-6th week of gestation.
Adequate maternal folic acid intake before
conception and in early pregnancy reduces risk.
, Anencephaly Most severe, fatal NTD.
Failure of cranial neural tube closure → absence or
marked reduction of cerebral hemispheres; brain
above brainstem largely missing.
Neural tissue exposed without skull/skin; visible at
birth.
Both genetic and environmental causes; often
detected prenatally via elevated alpha‑fetoprotein
and ultrasound.
Elevated maternal/amnio alpha‑fetoprotein; usually
detected prenatally on ultrasound.
1,000-2,000 infants born with this annually. Incidence
≈ 9.4 per 100,000 U.S. live births.
Incompatible with long‑term survival: most fetuses
die before birth or shortly after; described as
“incompatible with life”.
Nursing focus: perinatal loss support; allow holding,
photos; bereavement resources.
Spina Bifida Spinal dysraphism: caudal defect (below T12) from
failure of spine to close around day 25 of gestation
→ incomplete development of spinal
cord/protective coverings.
Instructor: centrally placed sacral dimples (midline)
often benign (her own son has one); off‑midline
dimples or hair tufts are more suspicious and get
ultrasound follow‑up.