Ch. 55 Test Flashcards
_____ refers to having extra fingers or toes
polydactyly
______ is a protein made in the fetal liver that enters the amniotic fluid through fetal urination and is absorbed into the maternal blood stream across the fetal membranes
AFP
_____ occurs due to abnormal drainage of the lymphatic system
cystic hygroma
_____ is an abnormally small chin
micrognathia
______ is a procedure that involves removal of amniotic fluid from the uterus with a needle through the maternal abdomen
amniocentesis
______ is an anterior abdominal wall defect in which abdominal contents are herniated into the base of the umbilical cord
omphalocele
______ is a dilation of the fetal abdomen due to severe fetal hydronephrosis and ascites. The baby also has hypoplastic lungs and oligohydramnios
prune belly syndrome
____ is a procedure that involves aspiration from the trophoblastic tissue that forms the placenta
chorionic villous sampling
_____ is a procedure in which a tiny camera is inserted into the uterus to image the fetus
embryoscopy
_____ is a description of the chromosomal makeup of an idividual
karyotype
______ is a series of screening tests for fetal defects that is more accurate than just checking single biochemical marker
triple screen
______ is a glycoprotein from fetal trophoblastic tissues that can be used to screen for fetal abnormalities
PAPP-A
______ refers to any abnormal number of chromosomes
aneuploidy
_____ chromosomal disorders require a pair of defective genes to be present for the abnormality to be manifested
autosomal recessive
Chromosomal disorders are manifested when a single defective gene is present
autosomal dominant
_____ disorders require the interaction of one or more abnormal genes and environmental factors for them to be manifested
multifactorial
______ is the occurrence of a gene mutation or chromosomal abnormality in a portion of a person’s cells
mosaicism
______ disorders are inherited by male fetuses from their mothers
x-linked
_____ is an abnormal fluid collection in the posterior fetal neck seen in the late first trimester
nuchal translucency
Trisomy _____ is also known as down syndrome
21
______ is having three copies of a particular chromosome
trisomy
Trisomy _____ is also know as edward’s syndrome
18
Trisomy ______ is also known as patau’s syndrome
13
______ is an abnormal curvature to the sole of the foot with prominent heels and supination of the foot, that is associated with trisomy 13
rocker-bottom foot
Trisomy _____ is the most common chromosomal trisomy
21
Trisomy _____ occurs in 1 of 10,000 live births
13
_____ is a condition in which a fetus has three complete sets of chromosomes
triploidy
_____ is an abnormality resulting from abnormal cleavage of the forebrain which features fused thalami, absent 3rd ventricle, and absence of the cavum septum pellucidum
holoprosencephaly
_____ is another name for clubfoot
talipes
____ refers to webbing of the fingers or toes
syndactyly
_____ is an open spinal defect characterized by protrusion of meninges and spinal cord through the defect, usually within a meningeal sac
meningomyelocele
______ is a genetic abnormality characterized by the absence of an X or Y chromosome (45X)
turner’s syndrome
Children with _____ generally are of normal intelligence
turner’s syndrome
Which of the following is most likely to have a fetus that survives beyond the first year
down’s syndrome
Which of the following is always lethal in its pure form
triploidy
Most fetuses with turner’s syndrome will
spontaneously abort
Most fetuses with triploidy will
spontaneously abort in the 1st trimester
Which of the following is generally characterized by cystic hydroma
Turner’s syndrome
Which of the following is more likely to survive the first year of life
trisomy 21
Define phenotype
physical appearance of an individual
Define simean crease
single palm crease, seen with trisomy 21
Define cliniodactyly
inward curving of 5th finger
What are the indications for an amniocentesis
advanced maternal age, history parent/previous child with chromosomal anomaly, abnormal AFP (high or low), abnormal triple/quad screen, anomaly detected on screening sonogram
What anomalies are associated with Trisomy 21
thickened nuchal fold, epicanthal folds, flattened/absent nasal bridge, duodenal atresia, short femurs, small ears, protruding tongue, polly, pilat ages, decreased AFP, eif
What anomalies are associated with Trisomy 18
dolicocephaly, microcephaly, choroid plexus cyst, micrognathia, cleft palate, clenched hands, club foot, rocker-bottom feet, IUGR, NIH, poly, single umbilical artery, cardiac anomalies
What anomalies are associated with Trisomy 13
holoprosencephaly, agenesis of corpus collosum, hypothyroidism, proboscis, cyclops, cleft palate, micrognathia, club foot, microcephaly, single nostril
Triploidy
VSD, omphalocele, holoprosencephaly, dandy walker malformation, micrognathia, cryptorchidism, ambiguous genitalia
