Prenatal Flashcards
In AFP maternal screening what is considered a significant MoM?
Above 2.5
What could be reasons for a false positive AFP maternal screening result?
Underestimated gestational age (most common)
Ventral well defect
Unrecognized twin gestation
Fetal demise
Abnormality of the fetal kidneys
Which maternal marker is elevated in Down syndrome in the First Trimester Screen?
b-hCG
What is the value of the nuchal translucency that suggests an increased risk for Trisomy 21?
> 2.5 mm
When is the quad screen performed?
Between 15w0d and 21w6d
In the quad screen analysis what is decreased and increased in Down syndrome?
Decreased: AFP, uE3
Increased: hCG, Inhibin A
In the quad screen analysis what is decreased and increased in T18/T13?
Decreased: AFP, uE3, and hCG
Inhibin A is N/A
What is associated with decreased uE3 levels?
Increased risk for Smith Lemli Opitz Syndrome
Steroid sulfatase deficiencies (X-linked icthyosis)
What is associated with extremely elevated AFP levels?
Congenital nephrotic syndrome
What is the false positive rate in maternal serum screening?
5%
When is a CVS performed?
11-14 wks
What are the drawbacks of CVS?
Placental mosaicism
What is the lower limit of cell-free DNA for a reliable result with NIPT?
4%
What is the size range for detecting del/dup on karyotype?
5-10 MB
If mosaicism is detected in CVS, what percentage of follow-up amniocentesis shows mosaicism?
10%
Which chromosomes are clinically relevant for UPD?
6, 7, 11, 14, 15,
What are some ultrasound findings of CMV in utero?
Cerebral calcifications (up to 17.4%)
Microcephaly (14.5%)
Echogenic bowel (up to 13%)
IUGR (up to 13%)
How do you test for CMV during pregnancy?
Maternal titers
PCR of amniocentesis >=21 weeks (sensitivity and specificity 97%)
What are the maternal titers for CMV during pregnancy?
IgG negative/IgM negative: no previous or current exposure
IgG positive/IgM negative: previous exposure
IgM positive: suggest current exposure
What are ultrasound findings indicative of a Parvovirus B19 infection?
Non-immune hydrops fetalis
Placentomegaly
Cardiomegaly
Fetal growth restriction
Rare congenital anomalies reported
What are treatments for prenatal treatment of Parvovirus B19?
Fetal cordocentesis if hydrops fetalis or suspected anemia
Fetal packed RBC intrauterine transfusion
What is the treatment for varicella zoster virus infection in pregnancy?
Maternal asymptomatic treatment–varicella zoster immune globulin within 96 hours of exposure
What is the treatment for varicella zoster virus infection for postnatal treatment?
Varicella-zoster immune globulin administered if risk for neonatal varicella
Infants dx within first 2wks receive intravenous acyclovir
What are ultrasound findings in toxoplasmosis?
Periventricular calcifications
Ventriculomegaly
Hepatosplenomegaly
Ascites
Microcephaly
IUGR
What are the symptoms of Congenital Rubella syndrome?
Hearing Loss*
Vision loss; cataracts
ID
CHD
Microcephaly
IUGR
Postnatal growth restrictions
What is the treatment of syphilis in pregancy?
Penicillin (treats maternal and prevents congenital syphilis)
What are the symptoms of congenital syphilis infection?
Hepatomegaly
Placentomegaly
Elevated peak systolic velocity in MCA
Ascites
Polyhydramnios
Hydrops fetalis
When is syphilis tested in pregnancy?
1st and 3rd trimester
In what trimester is the risk of complications from CMV infection greastest?
First trimester
What is maternal-fetal RBC antigen incompatibility
Maternal formation of immunoglobulin IgG antibodies against a paternally-inherited antigen from fetal RBC
What are the symptoms of erythroblastosis fetalis (Hemolytic disease of the fetus/newborn)?
Mild-severe anemia, hepatosplenomegaly, cardiomegaly, hydrops, IUFD
When is Rhogam given?
28 wks gestation
72 hours postpartum or maternal-fetal interaction (i.e. CVS, amniocentesis, vaginal bleeding)
What is the Mean Corpuscular Volume?
Average volume of RBC
What is the Mean Corpuscular Hemoglobin?
Average amount of Hb in RBC/sample
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
c. Congenital heart defects
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.
b. A sign of proximal muscle weakness.
