Chapter 53: Prenatal Diagnosis of Congenital Anomalies

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1

alpha-fetoprotein (AFP)

protein manufactured by the fetus, which can be studied in amniotic fluid and maternal serum; elevations of alpha-fetoprotein may indicate fetal anomalies (neural tube, abdominal wall, gastrointestinal), multiple gestations, or incorrect patient dates; decreased levels may be associated with chromosomal abnormalities

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amniocentesis

transabdominal removal of amniotic fluid from the amniotic cavity using ultrasound; amniotic fluid studies are performed to determine fetal karyotype, lung maturity, and Rh condition

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cystic hygroma

dilation of jugular lymph sacs (may occur in axilla or groin) because of improper drainage of the lymphatic system into the venous system; large, septated hygromas are frequently associated with Turner’s and Down syndromes, congestive heart failure, and death of the fetus in utero; isolated hygromas may occur as solitary lesions at birth; may be part of a general fatal condition, lymphangiectasis, or a benign focal process

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hypertelorism

abnormally wide-spaced orbits usually found in conjunction with congenital anomalies and mental retardation

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hypoplasia

underdevelopment of a tissue, organ, or body

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hypotelorism

abnormally closely spaced orbits; association with holoprosencephaly, chromosomal, central nervous system disorders, and cleft palate

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intrauterine growth restriction (IUGR)

a decreased rate of fetal growth, usually a fetal weight below the 10th percentile for a given gestational age

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micrognathia

abnormally small chin; commonly associated with other fetal anomalies

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omphalocele

anterior abdominal wall defect in which abdominal organs (liver, bowel, stomach) are atypically located within the umbilical cord; highly associated with cardiac, central nervous system, renal, and chromosomal anomalies

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polydactyly

anomalies of the hands or feet in which there is an addition of a digit; may be found in association with certain skeletal dysplasias

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TORCH

an acronym originally coined from the first letters of toxoplasmosis, rubella, cytomegalovirus, and herpesvirus type 2; O stands for other transplacental infections