Reproductive Genetics Final

Front

Which soft marker could have medical implications for the fetus even if the chromosomes are normal? Options: choroid plexus cyst, echogenic intracardiac focus, urinary tract dilation, all of the above

Back

urinary tract dilation

Front

Which ultrasound finding is associated with the highest chance for Down syndrome? Options: absent nasal bone, nuchal fold of 5mm, choroid plexus cyst, echogenic intracardiac focus

Back

absent nasal bone

Front

A cystic hygroma is found on a prenatal ultrasound evaluation. Which of the following is NOT associated with this abnormality/marker? congenital heart defect, Turner syndrome, Noonan syndrome

Back

Ambiguous genitalia

Front

Your patient's targeted US at 20 weeks GA reveals pelviectasis and an echogenic intracardiac focus. Which statement is most accurate?

Back

Her baby most likely has no aneuploidy

Front

Which aneuploidy marker is not associated with an increased chance for DS? EICF, CPC, urinary tract dilation, hypoplastic NB

Back

CPC

Front

Among individuals of Northern European ancestry, the chance to be a carrier of CF is approximately: 1 in 15, 1 in 25, 1 in 35, 1 in 45

Back

1 in 25

Front

Spinal muscular atrophy is most commonly caused by: a homozygous duplication in the SMN1 gene, a homozygous deletion in the SMN1 gene, a homozygous duplication in the SMN2 gene, a homozygous deletion in the SMN2 gene

Back

a homozygous deletion in the SMN1 gene

Front

Among African Americans, approximately ______ have HbAS?

Back

1 in 10

Front

Per ACOG, which screening should be offered to all pregnant women and those considering pregnancy? Options: CF, SMA, and Fragile X, CF, SMA, and hemoglobin electrophoresis, CF, SMA, and a CBC, CF, SMA, hemoglobinelectrophoresis and Fragile X

Back

CF, SMA, and a CBC

Front

Which of the following would NOT be a family hx finding that should prompt you to offer your patient Fragile X carrier testing? Options: pregnant patient reports her sister's son has autism, pregnant patient reports that her paternal aunt has a son with autism, pregnant patient reports that her brother's son has Fragile X syndrome, pregnant patient reports that her father has ataxia

Back

pregnant patient reports that her brother's son has Fragile X syndrome