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