Penny Chapter 30 - Chromosomal Abnormalities

with which of the following syndromes is brachycephaly associated most often? a. Edwards syndrome b. Patau syndrome c. Down syndrome d. Turner syndrome

!!! c. down syndrome

which of the following laboratory findings would not be consisitent with trisomy 21? a. high AFP b. low estriol c. high hCG d. low PAPP-A

a. high AFP

which of the following is not consistent with the diagnosis of nonimmune hydrops? a. hypoplastic mandible b. pleural effusion c. ascites d. subcutaneous edema

a. hypoplastic mandible

a 22-week fetus with clinodactyly, an echogenic intracardiac focus, and hyperechoic bowel is noted during a screening obstetrical sonogram. thee findings are most consistent with?

a. trisomy 21

absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for:

a. trisomy 21

webbed fingers or toes are termed:

b. syndactyly

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:

d. Down syndrome

the term for small eyes is:

!!! a. microphthalmia

what is macroglossia most often associated with?

!!! a. trisomy 21

the earliest invasive fetal karyotyping technique that can be performed is:

!!! c. CVS

widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for:

!!! c. down syndrome

theca lutein cysts would most likely be lined with a molar pregnancy and:

!!! c. triploidy

bilateral choroid plexus cysts, micrognathia, and rockerbottom feet are sonographic findings of a 27-week fetus with an omphalocele. these findings are most consistent with:

!!! c. trisomy 18

a molar pregnancy, omphalocele, and small, low set ears are found most often with:

!!! d. triploidy

normal diploid cells have how may chromosomes?

a. 46 chromosomes

echogenic small bowel is most often associated with:

a. Down syndrome

a strawberry-shaped skull is associated with:

a. Edwards syndrome

which protein is not produced by the developing placenta? a. Alpha-Fetoprotein b. hCG c. Estriol d. PAPP-A

a. alpha-fetoprotein

the triple screen typicaly includes:

a. alpha-fetoprotein, estriol, and hCG

pelvocaliectasis refers to:

a. dilation of the renal pelvis and calices

rounded head shape is referred to as:

b. brachycephaly

the bending of the fifth digit toward the fourth digit is called:

b. clinodactyly

advanced maternal age is considered to be:

c. > 35 years of age

with what procedure is placental tissue obtained?

c. CVS

what is another name for the most common chromosomal abnormality?

c. Down syndrome

which of the following is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males? a. down syndrome b. Edwards syndrome c. Klinefelter syndrome d. Turner syndrome

c. Klinefelter syndrome

what are the fingerlike projections of gestational tissue that attach to the decidualized endometrium?

c. chorionic villi

a structural abnormality that results from an abnormal development describes:

c. malformation

a fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has:

c. triploidy

cleft lip, hypotelorism, and microphthalmia are all sonographic features of:

c. trisomy 13

which of the following is a sex chromosome anomaly? a. Edwards syndrome b. trisomy 13 c. Down syndrome d. 45, X

d. 45, X

fusion of the orbits and holoprosencephalyn are associated with:

d. Patau syndrome

monosomy X refers to:

d. Turner syndrome

nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by:

d. Turner syndrome

webbing of the neck and short stature is found in infertile female patients with a history of:

d. Turner syndrome

the maternal serum screening of a mother with a fetus with trisomy 18 will reveal:

d. decreased hCG, alpha-fetoprotein, and estriol

a large space between the first and second toes is termed:

d. sandal gap

another name for Patau syndrome is:

d. trisomy 13

cyclopia would most likely be associated with:

d. trisomy 13

sonographically, you identify a fetus with fusion of the thalami, and a monoventricle. which chromosomal abnormality would be most likely?

d. trisomy 13