Skip to main content

Table 3 Inheritance pattern of genes and variants that contributed to molecular diagnoses

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

  All cases (n = 146 samples) Sporadic (n = 106 samples) Significant history (n = 40 samples)
Autosomal dominant (AD)
 De novo/germline 19 19 0
 De novo/mosaic in fetus 1 1 0
 Inherited/mosaic in mother 2 2 0
 Parents unavailable 1 1 0
 Total AD 23 23 0
Autosomal recessive (AR)
 Compound heterozygous 13 6 7
 Homozygous 6 3 3
 TOTAL AR 19 9 10
X-linked (XL)
 De novo 2 2 0
 Inherited/mother 2 1 1
 Total XL 4 3 1
Total molecular diagnoses 46 35 11
  1. Cases classified as “sporadic” are those with no reported family members or previous pregnancies with a similar phenotype. Cases classified as “significant history” are those with a previous pregnancy or a close biological relative or with similar phenotypic findings