chapter 30 chromosomal abnormalities questions
rounded head shape is referred to as
brachycephaly
the bending of the fifth digit toward the fourth digit is called?
clinodactyly
Widened pelvic angles and duododnal atresia are most consistent with the sonographic markers for: A. Triploidy B. Patau syndrome C. Down syndrome D.Edwards syndrome
down syndrome
which of the following is not consistent with the diagnosis of nonimmune hydrops? -hypoplastic mandible -pleural effusion -ascites -subcutaneous edema
hypoplastic mandible
a large space between the first and second toes is termed?
sandal gap
Webbed fingers or toes are termed : A. Clinodactyly B. Syndactyly C. Polydactyly D. Whren syndrome
syndactyly
theca lutein cysts would most likely be linked with a molar pregnancy and
triploidy
with what procedure is placental tissue obtained?
CVS
with which of the following syndromes is brachycephaly associated most often: -edwards -Patau -down's -turner
downs syndrome
another name for Patau syndrome is
trisomy 13
cyclopia would most likely be associated with?
trisomy 13
which of the following is a sex chromosome anomaly? -edwards -trisomy 13 -downs -45,X
45,X
normal diploid cells have?
46 chromosomes
advanced maternal age is considered to be
>35 years of age
the earliest invasive fetal karyotyping technique that can be performed is:
CVS
which protein is not produced by the developing placenta?
alpha-fetoprotein
the triple screen typically includes:
alpha-fetoprotein, estriol, and hCG
what are the fingerlike projections of gestational tissue that attach to the decidualized endometrium?
chorionic villi
the maternal serum screening of a mother with a fetus with trisomy 18 will reveal?
decreased hCG, alpha-fetoprotein, and estriol
pelvocaliectasis refers to
dilation of the renal pelvis and calices
a 38 year old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. Her alpha-fetoprotein and estriol are low, whereas her hCG is elevated. These laboratory findings are most consistent with:
down syndrome
echogenic small bowel is most often associated with
down syndrome
what is another name for the most common chromosomal abnormality?
down syndrome
a strawberry-shaped skull is associated with
edwards syndrome
which of the following laboratory findings would not be consistent with trisomy 21? -high AFP -low estriol -high hCG -low PAPP-A
high AFP
which of the following is a sex chromosomes anomaly associated with hypogonadism and subnormal intelligence in males? -down syndrome -edwards syndrome -klinefelter syndrome -turner syndrome
klinefelter
a structural abnormality that results from an abnormal development describes
malformation
the term for small eyes is
micropthalamia
Fusion of the orbits and holoprosencephaly are associated with:
patau syndrome
a fetus with a karyotype revealing it has 69 chromosomes ans sonographic findings of webbed fingers and intrauterine growth restriction most likely has?
triploidy
a molar pregnancy, omphalocele, and small, low-set ears are found most often with?
triploidy
Cleft lip, hypotelorism, and microphthalmia are all sonographic features of: a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 d. Turner syndrome
trisomy 13
sonographically, you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely?
trisomy 13
bilateral choriod plexus cysts, micrognathia, and rockerbottom feet are sonographic findings of a 27 week fetus with an omphalocele. these findings are most consistent with
trisomy 18
Absent nasal bones in an increased nuchial measurement is most consistent with the sonographic markers for: A. Trisomy 21 B. Trisomy 13 C. Triploidy D. Trisomy 18
trisomy 21
a 22 week fetus with clinodactyly, an echogenic intracardiac focus, and hyperechoic bowel is noted during a screening obstetrical sonogram. these findings are most consistent with
trisomy 21
what is macroglossia most often associated with?
trisomy 21
Webbing of the neck and short stature is found in infertile female patients with a history of: A. trisomy 21 B. Triploidy c. trisomy 13 d. Turner syndrome
turner syndrome
monosomy X refers to `
turner syndrome
nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by?
turner syndrome
