Prenatal

Question 1

In AFP maternal screening what is considered a significant MoM?

Answer 1

Above 2.5

Question 2

What could be reasons for a false positive AFP maternal screening result?

Answer 2

Underestimated gestational age (most common)
Ventral well defect
Unrecognized twin gestation
Fetal demise
Abnormality of the fetal kidneys

Question 3

Which maternal marker is elevated in Down syndrome in the First Trimester Screen?

Answer 3

b-hCG

Question 4

What is the value of the nuchal translucency that suggests an increased risk for Trisomy 21?

Answer 4

> 2.5 mm

Question 5

When is the quad screen performed?

Answer 5

Between 15w0d and 21w6d

Question 6

In the quad screen analysis what is decreased and increased in Down syndrome?

Answer 6

Decreased: AFP, uE3

Increased: hCG, Inhibin A

Question 7

In the quad screen analysis what is decreased and increased in T18/T13?

Answer 7

Decreased: AFP, uE3, and hCG

Inhibin A is N/A

Question 8

What is associated with decreased uE3 levels?

Answer 8

Increased risk for Smith Lemli Opitz Syndrome
Steroid sulfatase deficiencies (X-linked icthyosis)

Question 9

What is associated with extremely elevated AFP levels?

Answer 9

Congenital nephrotic syndrome

Question 10

What is the false positive rate in maternal serum screening?

Answer 10

5%

Question 11

When is a CVS performed?

Answer 11

11-14 wks

Question 12

What are the drawbacks of CVS?

Answer 12

Placental mosaicism

Question 13

What is the lower limit of cell-free DNA for a reliable result with NIPT?

Answer 13

4%

Question 14

What is the size range for detecting del/dup on karyotype?

Answer 14

5-10 MB

Question 15

If mosaicism is detected in CVS, what percentage of follow-up amniocentesis shows mosaicism?

Answer 15

10%

Question 16

Which chromosomes are clinically relevant for UPD?

Answer 16

6, 7, 11, 14, 15,

Question 17

What are some ultrasound findings of CMV in utero?

Answer 17

Cerebral calcifications (up to 17.4%)
Microcephaly (14.5%)
Echogenic bowel (up to 13%)
IUGR (up to 13%)

Question 18

How do you test for CMV during pregnancy?

Answer 18

Maternal titers
PCR of amniocentesis >=21 weeks (sensitivity and specificity 97%)

Question 19

What are the maternal titers for CMV during pregnancy?

Answer 19

IgG negative/IgM negative: no previous or current exposure
IgG positive/IgM negative: previous exposure
IgM positive: suggest current exposure

Question 20

What are ultrasound findings indicative of a Parvovirus B19 infection?

Answer 20

Non-immune hydrops fetalis
Placentomegaly
Cardiomegaly
Fetal growth restriction
Rare congenital anomalies reported

Question 21

What are treatments for prenatal treatment of Parvovirus B19?

Answer 21

Fetal cordocentesis if hydrops fetalis or suspected anemia
Fetal packed RBC intrauterine transfusion

Question 22

What is the treatment for varicella zoster virus infection in pregnancy?

Answer 22

Maternal asymptomatic treatment–varicella zoster immune globulin within 96 hours of exposure

Question 23

What is the treatment for varicella zoster virus infection for postnatal treatment?

Answer 23

Varicella-zoster immune globulin administered if risk for neonatal varicella
Infants dx within first 2wks receive intravenous acyclovir

Question 24

What are ultrasound findings in toxoplasmosis?

Answer 24

Periventricular calcifications
Ventriculomegaly
Hepatosplenomegaly
Ascites
Microcephaly
IUGR

Question 25

What are the symptoms of Congenital Rubella syndrome?

Answer 25

Hearing Loss* Vision loss; cataracts ID CHD Microcephaly IUGR Postnatal growth restrictions

Question 26

What is the treatment of syphilis in pregancy?

Answer 26

Penicillin (treats maternal and prevents congenital syphilis)

Question 27

What are the symptoms of congenital syphilis infection?

Answer 27

Hepatomegaly Placentomegaly Elevated peak systolic velocity in MCA Ascites Polyhydramnios Hydrops fetalis

Question 28

When is syphilis tested in pregnancy?

Answer 28

1st and 3rd trimester

Question 29

In what trimester is the risk of complications from CMV infection greastest?

Answer 29

First trimester

Question 30

What is maternal-fetal RBC antigen incompatibility

Answer 30

Maternal formation of immunoglobulin IgG antibodies against a paternally-inherited antigen from fetal RBC

Question 31

What are the symptoms of erythroblastosis fetalis (Hemolytic disease of the fetus/newborn)?

Answer 31

Mild-severe anemia, hepatosplenomegaly, cardiomegaly, hydrops, IUFD

Question 32

When is Rhogam given?

Answer 32

28 wks gestation 72 hours postpartum or maternal-fetal interaction (i.e. CVS, amniocentesis, vaginal bleeding)

Question 33

What is the Mean Corpuscular Volume?

Answer 33

Average volume of RBC

Question 34

What is the Mean Corpuscular Hemoglobin?

Answer 34

Average amount of Hb in RBC/sample

Question 35

Angiotensin converting enzymes (ACE) inhibitors are a common medication used for the treatment of hypertension. When taken during pregnancy ACE inhibitors have been linked to birth defects in the fetus. Which of the following conditions is not associated with ACE inhibitor use during pregnancy? a. Pulmonary hypotension b. Renal tubular dysplasia c. Congenital heart defects d. Oligohydramnios

Answer 35

c. Congenital heart defects

Question 36

A Gower sign is... a. Indicative of a specific dystrophinopathy. b. A sign of proximal muscle weakness. c. A sign of distal muscle weakness. d. Indicative of cardiomyopathy.

Answer 36

b. A sign of proximal muscle weakness.