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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