Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Table 1 Molecular diagnostic rate and turnaround time by test type

Exome type	No. of cases	No. of molecular diagnoses	Diagnostic rate	Mean TAT (range, weeks)
Prenatal trio	62	22	35%	2.0 (1.0–5.4)
Standard trio	33	7	21%	6.2 (1.9–11.1)
Proband	51	17	33%	12.6 (2.6–20.2)
Total	146	46	32%

The overall molecular diagnostic rate, considering all exome test types, is 32% (n = 46/146). The molecular diagnostic rates of each test type (prenatal trio, 35%; standard trio, 21%; proband, 33%) are not significantly different (p > 0.05, Fisher’s exact test). The mean turnaround time (TAT) for each test type is indicated and the range is indicated in parentheses

ISSN: 1756-994X