Double Aneuploidy Detected by Cell-Free DNA Testing and Confirmed by Fetal Tissue Analysis.

Abstract:

BACKGROUND:Double aneuploidies account for 0.21-2.8% of spontaneous abortions resulting from chromosomal abnormalities. Rarely, cell-free DNA testing detects multiple aneuploidies; however, to discern among maternal, placental, and fetal origin, further evaluation is required. CASE:A 49-year-old woman, gravida 5 para 0, underwent cell-free DNA testing at 11 4/7 weeks of gestation, which revealed a fetus that was high risk for trisomies 18 and 21. On ultrasonography at 14 weeks of gestation, she was diagnosed with a missed abortion and underwent surgical management. Fetal and placental tissues were sent for analysis and were positive for trisomies 18 and 21, confirming the results of cell-free DNA testing. CONCLUSION:Our case highlights the ability of cell-free DNA testing to recognize a double aneuploidy confirmed by fetal tissue analysis.

journal_name

Obstet Gynecol

authors

Echague CG,Petersen SM

doi

10.1097/AOG.0000000000001390

subject

Has Abstract

pub_date

2016-06-01 00:00:00

pages

1064-1066

issue

6

eissn

0029-7844

issn

1873-233X

pii

00006250-201606000-00012

journal_volume

127

pub_type

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