. Author manuscript; available in PMC: 2019 Mar 1.

Published in final edited form as: Obstet Gynecol Clin North Am. 2018 Mar;45(1):69–81. doi: 10.1016/j.ogc.2017.10.003

Table 1.

Fetal exome sequencing published case series

First Author	Number of Cases	Cohort description	Proband vs trio	Pathogenic variant	Likely pathogenic variant
Yang¹²	11	Terminated anomalous fetuses	Trio	6/11 (54%)	--
Carss¹⁵	30	Prenatal sonographic anomalies	Trio	3/30 (10%)	5/30 (16.7%)
Drury³	24	Prenatal sonographic anomalies including NT ≥3.5	14 Proband 10 trio	5/24 (20.8%)	1/24 (4.2%)
Alamillo¹¹	7	Multiple sonographic anomalies termination or demise	Trio	3/7 (42.9%)	1/7 (14.3%)
Pangalos¹³	14	Prenatal sonographic anomalies	Proband only	6/14 (42.9%)	--
Yates¹⁴	84	Demise or termination	33 Proband/duo 51 Trio/quad	17/84 (20%)	38/84 (45%)
Vora²⁶	15	Multiple sonographic anomalies	Trio	7/15 (46.7%)	1/15 (6.7%)