Trisomy 16 fetus surviving into the second trimester.
A 27-year-old gravida 4, para 3 was found to have anhydramnios at 14 weeks' gestation following a size/date discrepancy noted at her routine prenatal visit. A detailed ultrasound revealed multiple fetal anomalies including congenital heart defect, chest hypoplasia, and bilateral dysplastic kidneys. Karyotype revealed trisomy 16 in 15/15 cells from a tissue specimen obtained from the fetal cord insertion site following elective pregnancy termination.
Cusick
W
W
Center for Human Reproduction, Division of Maternal-Fetal Medicine, Chicago, IL 60610, USA.
Bork
M
M
Fabri
B
B
Benn
P
P
Rodis
J F
JF
Buttino
L
L
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D000028:Abortion, Induced; D000328:Adult; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011248:Pregnancy Complications; D011262:Pregnancy Trimester, Second; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D014927:Wolff-Parkinson-White Syndrome