Triploid partial molar pregnancy and fetal neural tube defect detected through Down's syndrome screening.
A third case of triploid partial molar pregnancy with fetal neural tube and abdominal-wall defect, detected through maternal serum alphafetoprotein and hCG screening for Down's syndrome is reported. A 23-year-old woman had elevated serum alphafetoprotein and hCG levels at routine screening at the 16th week of gestation. Ultrasound examination suggested a fetal neural tube and abdominal-wall defect with thickened placenta. Amniocentesis was performed. A triploid karyotype (69 XXY) was confirmed with standard cytogenetic analysis. Fetal neural tube and abdominal wall defect was confirmed at the autopsy of the fetus. Placental histology was consistent with a hydatiform mole. When serum alphafetoprotein and hCG are elevated, during screening for Down's syndrome, the possibility of a partial molar pregnancy with fetal malformation should be added to the differential diagnosis.
Quintieri
F
F
Clinica Ginecologica ed Ostetrica Università di Padova.
Idotta
R
R
D000009:Abdominal Muscles / Q000002:abnormalities; D000328:Adult; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D006828:Hydatidiform Mole / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009436:Neural Tube Defects / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal; D014594:Uterine Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics