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Table 9 Results of prenatal diagnosis

From: Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

 

Total

AR

AD

XL

Number of patients

33

15

13

5

Pregnancy status at counseling

    

   Not pregnant

19 (57.5)

11 (73.3)

7 (53.8)

1 (20.0)

   Pregnant

14 (42.5)

4 (26.7)

6 (46.2)

4 (80.0)

Sample

    

   Amniotic fluid

28 (84.8)

12 (80.0)

12 (92.3)

4 (80.0)

   Chorionic villus

5 (15.2)

3 (20.0)

1 (7.7)

1 (20.0)

Number of variants carried by the fetus

    

  2

4 (12.1)

4 (26.7)

–

–

  1

12 (36.4)

9 (60.0)

2 (15.4)

1 (20.0)

  0

17 (51.5)

2 (13.3)

11 (84.6)

4 (80.0)

  1. AR, autosomal recessive; AD, autosomal dominant; XL, X-linked