Table 2 Variants of the fetuses identified in the study

1

FGFR3

c.1015C > T

p. Arg339Ter

Het

Likely pathogenic

De novo

AD

Induced labor

2

WNT1

c.1027G > C

p. Glu343Gln

Het

VUS

Paternal

AR

Induced labor

3

FGFR3

c.1144G > A

p. Gly282Arg

Het

pathogenic

De novo

AD

Induced labor

4

FBN1

OBSL1

c.7842 T > A

c.2135-3_2135-2delCA

p. Ala2614Ala

p.2135-3_2135-2delCA

Het

VUS

Biparental

AD

AR

Vaginal delivery

5

COL1A1

c.824G > A

p. Gly275Asp

Het

VUS

De novo

AD

Induced labor

6

IMPAD1

c.700G > T CDS4-5del

p.E234* CDS4-5 del

Hom

Het

pathogenic

Biparental

AR

Cesarean

Section(death)

7

FBN2

Exon21-25del

Exon21-25del

Het

Likely Pathogenic

De novo

AR

Induced labor

8

DYNC2H1

NEK1

c.2641G > T

c.859C > G

p. Asp881Tyr

p. Pro287Ala

Het

VUS

Biparental

AR

Induced labor

9

COL1A2

c.1118G > C

p. Gly373Ala

Het

Likely pathogenic

Maternal

AD

Induced labor

10

GORAB

c.178C > T

p. Arg60*

Het

pathogenic

Maternal

AR

Cesarean section

11

N

N

N

N

N

N

N

Cesarean section

12

FGFR3

c. 1138 G > A

p. Gly380Arg

Het

pathogenic

De novo

AD

Induced labor

13

N

N

N

N

N

N

N

Vaginal delivery

14

N

N

N

N

N

N

N

Vaginal delivery

15

CUL7

c.3355 + 5G > A

c.3722_3749dup

p. V1252Gfs*23

Het

Likely pathogenic

Biparental

AR

Induced labor

16

N

N

N

N

N

N

N

Vaginal delivery

17

N

N

N

N

N

N

N

Vaginal delivery

18

DYNC2H1

c.4072C > T

p. Arg1358Cys

Het

Likely pathogenic

De novo

AR

Induced labor

19

N

N

N

N

N

N

N

Cesarean section

20

FGFR3

c.2420G > C

p.*807Sext*101

Het

Likely pathogenic

De novo

AD

Induced labor

21

N

N

N

N

N

N

N

Cesarean section

22

FGFR3

c.1948A > G

p. Lys650Glu

Het

pathogenic

De novo

AD

Induced labor

23

FGFR3

c.742C > T

p. Arg248Cys

Het

pathogenic

De novo

AD

Induced labor

24

N

N

N

N

N

N

N

N