Table 2.1 List of conditions for which preimplantation genetic testing (PGT) was performed and PGT‐M outcome: 30 years of original experience.
Conditions | Gene | Type of inheritance | No. patients | No. cycles | No. embryo transfers | No. embryos transferred | Pregnancy % | No. deliveries |
---|---|---|---|---|---|---|---|---|
3‐Hydroxyisobutyryl‐CoA hydrolase deficiency (HIBCHD) | HIBCH | AR | 1 | 1 | 1 | 2 | 0 | 0 |
3‐Methylglutaconic aciduria with deafness, encephalopathy, and Leigh‐like syndrome (MEGDEL) | SERAC1 | AR | 1 | 1 | 1 | 1 | 0 | 0 |
Achondroplasia (ACH) | FGFR3 | AD | 8 | 17 | 11 | 14 | 7 | 6 |
Achromatopsia 2 (ACHM2) | CNGA3 | AR | 1 | 1 | 1 | 1 | 1 | 1 |
Achromatopsia 3 (ACHM3) | CNGB3 | AR | 3 | 4 | 4 | 5 | 2 | 2 |
Acromesomelic dysplasia, Maroteaux type (AMDM) | NPR2 | AR | 1 | 1 | 2 | 2 | 1 | 1 |
Acyl‐CoA dehydrogenase, medium‐chain, deficiency | ACADM | AR | 3 | 8 | 7 | 14 | 4 | 4 |
Acyl‐CoA dehydrogenase, very long‐chain; (ACADVL) | ACADVL | AR | 5 | 6 | 6 | 11 | 2 | 2 |
Adrenal hyperplasia, congenital, due to 21‐hydroxylase deficiency | CYP21A2 | AR | 23 | 34 | 26 | 42 | 17 | 17 |
Adrenoleukodystrophy (ALD) | ABCD1 | XL | 17 | 33 | 20 | 29 | 11 | 11 |
Agammaglobulinemia, X‐linked (XLA) | BTK | XL | 4 | 7 | 7 | 13 | 3 | 3 |
Aicardi–Goutieres syndrome 5 (AGS5 + CF) | SAMHD1 | AR | 1 | 2 | 2 | 2 | 1 | 1 |
Alagille syndrome 1 (ALGS1) | JAG1 | AD | 1 | 1 | 1 | 1 | 1 | 1 |
Albinism, ocular, type i (OA1) | GPR143 | XL | 1 | 12 | 5 | 9 | 4 | 3 |
Albinism, oculocutaneous, type ia (OCA1a) | TYR | AR | 4 | 7 | 6 | 9 | 3 | 3 |
Albinism, oculocutaneous, type ii (OCA2) | OCA2 |