. Author manuscript; available in PMC: 2017 Sep 26.

Published in final edited form as: Am J Obstet Gynecol. 2016 Jun 28;215(5):626.e1–626.e10. doi: 10.1016/j.ajog.2016.06.039

Table 5.

Aneuploidy cases missed by cfDNA

Case	Age (y)	cfDNA Result	Serum Screening	NT (mm)	US findings	Karyotype	Outcome
1	40	Negative	None	NA	Holoprosencephaly, single umbilical artery	47XX, +13	TOP
2	30	Negative	None	3.6	Cystic hygroma	46XX, mosaic chr 18 ring	TOP
3	38	+Trisomy 13	None	6.4	Ventriculomegaly, holoprosencephaly, polydactyly	47XY, +18	TOP
4	41	Non-reportable	FTS (1/5 risk trisomy 21)	5.9	Absent nasal bone	47XX, +21	TOP

Abbreviations: cfDNA, cell-free fetal DNA; NT, nuchal translucency; US, ultrasound; bottom, termination of pregnancy; FTS, first-trimester screen