Document Detail

Triploid partial molar pregnancy detected through maternal serum alpha-fetoprotein and HCG screening.
MedLine Citation:
PMID:  7512706     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Screening for Down syndrome using maternal serum alpha-fetoprotein (MSAFP) and hCG, with or without unconjugated estriol (E3), has become standard practice in much of the United States. When both MSAFP and hCG are elevated, the possibility of a partial molar pregnancy with fetal neural tube or abdominal-wall defect should be added to the differential diagnosis, as illustrated by this case. CASE: A 22-year-old woman had elevated MSAFP and hCG levels on routine screening at 16 weeks' gestation. Ultrasound examination suggested a neural tube defect and a thickened placenta. Amniocentesis was performed. She very rapidly developed preeclampsia. Fluorescence in situ hybridization showed three distinct spots for the three probes tested. A triploid karyotype was confirmed with standard cytogenetic analysis. The fetus had an open neural tube defect, and placental pathology was consistent with a partial hydatidiform mole. CONCLUSIONS: A possible partial molar pregnancy with abdominal-wall or open neural tube defect should be added to the differential diagnosis for interpreting Down syndrome screens when both MSAFP and hCG are elevated. A presumptive diagnosis of triploidy using fluorescence in situ hybridization was important in the management of this pregnancy.
M A Harper; C Ruiz; M J Pettenati; P N Rao
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  83     ISSN:  0029-7844     ISO Abbreviation:  Obstet Gynecol     Publication Date:  1994 May 
Date Detail:
Created Date:  1994-05-17     Completed Date:  1994-05-17     Revised Date:  2009-10-26    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  844-6     Citation Subset:  AIM; IM    
Department of Obstetrics and Gynecology, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina.
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MeSH Terms
Chorionic Gonadotropin / blood*
Chromosome Aberrations
Diagnosis, Differential
Down Syndrome / diagnosis
Fetal Diseases / diagnosis
Hydatidiform Mole / complications,  diagnosis*,  genetics
Pre-Eclampsia / complications
Prenatal Diagnosis
Spinal Dysraphism / diagnosis
Uterine Neoplasms / complications,  diagnosis*,  genetics
alpha-Fetoproteins / analysis*
Reg. No./Substance:
0/Chorionic Gonadotropin; 0/alpha-Fetoproteins

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