Ch 55: Congenital Anomalies Flashcards
What is alpha-fetoprotein?
Protein manufactured by the fetus, which can be studied in amniotic fluid and maternal serum.
What is amniocentesis?
Transabdominal removal of amniotic fluid from the amniotic cavity using ultrasound.
What is cystic hygroma?
Dilatation of jugular lymph sacs caused by improper drainage of the lymphatic system into the venous system.
What is hypertelorism?
Abnormally wide-spaced orbits usually found in conjunction with congenital anomalies and mental retardation.
What is hypoplasia?
Underdevelopment of a tissue, organ, or body.
What is hypotelorism?
Abnormally closely spaced orbits; associated with holoprosencephaly, chromosomal and central nervous system disorders, and cleft palate.
What is intrauterine growth restriction?
Decreased rate of fetal growth, usually fetal weight below the 10th percentile for a given gestational age.
What is micrognathia?
Abnormally small chin; commonly associated with other fetal anomalies.
What is omphalocele?
Anterior abdominal wall defect in which abdominal organs are atypically located within the umbilical cord; highly associated with cardiac, central nervous system, renal, and chromosomal anomalies.
What is 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.
What does TORCH stand for?
An acronym originally coined from the first letters of toxoplasmosis, rubella, cytomegalovirus, and herpesvirus type 2.
Fill in the blank: A major congenital anomaly is found in ______ of every 100 births.
3
Fill in the blank: An ultrasound-directed biopsy of the placenta or chorionic villi in the first trimester is ______.
chorionic villi sampling
Fill in the blank: A specialized prenatal test that permits direct viewing of the developing embryo using a transcervical endoscope is called ______.
embryoscopy
Fill in the blank: The technique first used to relieve polyhydramnios is ______.
amniocentesis
What is the technique for amniocentesis in multiple gestations?
The amniocentesis technique for multiple gestations is similar to the singleton method, except that each fetal sac is entered.
What is another method for analyzing chromosomes?
Another method in which chromosomes are analyzed is Cordocentesis.
What is the major protein in fetal serum produced by the yolk sac and fetal liver?
The major protein in fetal serum is alpha-fetal protein.
How is AFP transported into the amniotic fluid?
AFP is transported into the amniotic fluid by fetal urination and reaches maternal circulation through the fetal membranes.
What are common reasons for high AFP levels?
Common reasons for high AFP levels are neural tube defects such as anencephaly and open spina bifida.
What abdominal wall defects produce elevations in AFP levels?
Two common abdominal wall defects, Omphalocele and gastroschisis, produce elevations of AFP.
What is expected about AFP levels in twin pregnancies compared to singleton pregnancies?
It is expected that the AFP level in a twin pregnancy will be double that of a singleton pregnancy.
What does a normal karyotype consist of?
A normal karyotype consists of 46 chromosomes, 22 pairs of autosomes, and a pair of sex chromosomes.
What is an abnormality of the number of chromosomes called?
An abnormality of the number of chromosomes is called aneuploidy.
