Table 1: PGT for Cardiac diseases in our overall PGT-M experience.

Disease

Gene

# Cycle

# Transfers

# Embryos

transferred

Pregnancy

Birth

Acyl-CoA Dehydrogenase, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

ACADVL (AR)

6

8

12

2

2

CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1; CEMCOX1

SCO2 (AR)

5

5

10

3

3

CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

MAP2K2 (AD)

2

1

1

1

1

CARDIOMYOPATHY, DILATED, 1A; CMD1A

LMNA (AD)

17

15

24

9

10

CARDIOMYOPATHY, DILATED, 1DD; CMD1DD

RBM20 (AD)

2

3

3

2

2

CARDIOMYOPATHY, DILATED, 1E; CMD1E

SCN5A (AD)

2

2

2

1

1

CARDIOMYOPATHY, DILATED, 1G; CMD1G

TTN (AD)

1

1

1

1

1

CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA

DSP (AD)

3

2

2

2

1

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

MYH7 (AD)

6

4

4

2

2

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

TNNT2 (AD)

1

1

2

1

2

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4

MYBPC3 (AD)

22

16

23

11

9

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7

TNNI3 (AD)

1

1

1

0

0

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8

MYL3 (AD)

2

1

1

0

0

CARDIO SKELETAL MYOPATHY WITH NEUTROGENA AND ABNORMAL MITOCHONDRIA

TAZ (XLR)

1

1

1

1

1

COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7

COQ4 (AR)

1

1

1

1

1

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

EMD (XLR)

4

4

6

3

3

HOLT-ORAM SYNDROME; HOS

TBX5 (AD)

8

7

8

3

4

LOEYS-DIETZ SYNDROME 1; LDS1

TGFBR2 (AD)

5

4

6

2

1

LONG QT SYNDROME 1; LQT1

KCNQ1 (AD)

6

3

3

3

3

LONG QT SYNDROME 2; LQT2

KCNH2 (AD)

3

1

1

1

1

LONG QT SYNDROME 8; LQT8

CACNA1C (AD)

1

1

1

1

1

MYOPATHY, MYOFIBRILLAR, 1; MFM1

DES (AD)

2

2

3

1

1

NOONAN SYNDROME 1; NS1

PTPN11 (AD)

8

5

7

4

4

Total PGT for Cardiac disease

23 GENES

109

89

123 (1.38)

55 (61.7%)

54

Total PGT-M Experience

558 GENES

6204

4630

 70611.52

244752.80%

2517

AD: Autosomal Dominant; AR: Autosomal Recessive; XLR: X-linked Recessive