Table 3.
Genetic disease in cohort of patients undertaking prenatal genetic diagnosis (PND)
| Gene | Condition (OMIM) | Inheritance | Number of tests performed for each conditiona | |
|---|---|---|---|---|
| 1 | AARS2 | Combined oxidative phosphorylation deficiency 8 | AR | 1 |
| 2 | AGXT | Primary hyperoxaluria | AR | 2 |
| 3 | ALDH3A2 | Sjogren-Larsson syndrome | AR | 1 |
| 4 | ALG12 | Congenital disorder of glycosylation, type Ig | AR | 1 |
| 5 | AMPD2 | Pontocerebellar hypoplasia, type 9 | AR | 1 |
| 6 | ANTXR2 | Hyaline fibromatosis syndrome | AR | 2 |
| 7 | AP3B2 | Developmental and epileptic encephalopathy 48 | AR | 1 |
| 8 | AP3D1 | Hermansky-Pudlak syndrome 10 | AR | 1 |
| 9 | ARSA | Metachromatic leukodystrophy | AR | 3 |
| 10 | ASL | Argininosuccinic aciduria | AR | 1 |
| 11 | ASPA | Canavan disease | AR | 1 |
| 12 | ATP8A2 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR | 1 |
| 13 | B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11) | AR | 1 |
| 14 | CPS1 | Carbamoylphosphate synthetase I deficiency | AR | 2 |
| 15 | CTSA | Galactosialidosis | AR | 3 |
| 16 | DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | AR | 2 |
| 17 | DLAT | Pyruvate dehydrogenase E2 deficiency | AR | 1 |
| 18 | DMD | Duchenne muscular dystrophy | XL | 1 |
| 19 | EIF2AK3 | Wolcott-Rallison syndrome | AR | 1 |
| 20 | EMC1 | Cerebellar atrophy, visual impairment, and psychomotor retardation | AR | 1 |
| 21 | ERCC5 | Xeroderma pigmentosum, group G/Cockayne syndrome | AR | 2 |
| 22 | ETFDH | Glutaric acidemia II | AR | 3 |
| 23 | FBXL4 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR | 2 |
| 24 | FGFR3 | Thanatophoric dysplasia, type II | AD | 2 |
| 25 | FKTN | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation) type 4B | AR | 1 |
| 26 | FRAS1 | Fraser syndrome | AR | 1 |
| 27 | GALC | Krabbe disease | AR | 1 |
| 28 | GAN | Giant axonal neuropathy | AR | 1 |
| 29 | GLB1 | GM1-gangliosidosis, type I | AR | 1 |
| 30 | HBB | Beta thalassemia | AR | 2 |
| 31 | HSD17B4 | Perrault syndrome 1 | AR | 1 |
| 32 | IBA57 | Multiple mitochondrial dysfunctions syndrome 3 | AR | 1 |
| 33 | IDUA | Mucopolysaccharidosis type I (Hurler) | AR | 1 |
| 34 | IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR | 1 |
| 35 | ITGA8 | Renal hypoplasia/aplasia 1 | AR | 1 |
| 36 | LAMA3 | Epidermolysis bullosa, junctional, Herlitz type | AR | 1 |
| 37 | MPV17 | Mitochondrial DNA depletion syndrome type 6 | AR | 1 |
| 38 | NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B) | AR | 1 |
| 39 | NFASC | Neurodevelopmental disorder with central and peripheral motor dysfunction | AR | 1 |
| 40 | OSTM1 | Osteopetrosis | AR | 2 |
| 41 | PC | Pyruvate carboxylase deficiency | AR | 1 |
| 42 | PCCB | Propionic acidemia | AR | 1 |
| 43 | PEX1 | Peroxisome biogenesis disorder 1A (Zellweger) | AR | 7 |
| 44 | PEX14 | Peroxisome biogenesis disorder 13A (Zellweger) | AR | 1 |
| 45 | PEX26 | Peroxisome biogenesis disorder 7A (Zellweger) | AR | 2 |
| 46 | PGAP3 | Hyperphosphatasia with mental retardation syndrome 4 | AR | 1 |
| 47 | PKHD1 | Polycystic kidney disease 4, with or without hepatic disease | AR | 1 |
| 48 | PLA2G6 | Neurodegeneration with brain iron accumulation 2B | AR | 1 |
| 49 | PRUNE1 | Prune-1 syndrome | AR | 3 |
| 50 | RAB3GAP1 | Warburg-Micro syndrome | AR | 2 |
| 51 | RARS | Hypomyelinating leukodystrophy type 9 | AR | 1 |
| 52 | RARS2 | Pontocerebellar hypoplasia, type 6 | AR | 1 |
| 53 | RECQL4 | RAPADILINO syndrome | AR | 1 |
| 54 | SMN1 | Spinal muscular atrophy-1 | AR | 17 |
| 55 | SPINK5 | Netherton syndrome | AR | 1 |
| 56 | STT3A | Congenital disorder of glycosylation, type Iw | AR | 2 |
| 57 | SUOX | Sulfite oxidase deficiency | AR | 3 |
| 58 | TBCE | Hypoparathyroidism-retardation-dysmorphism syndrome | AR | 3 |
| 59 | TINF2 | Dyskeratosis congenita | AD | 1 |
| 60 | TMEM138 | Joubert syndrome 16 | AR | 1 |
| 61 | TRIP11 | Achondrogenesis, type IA | AR | 1 |
| 62 | TRNT1 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR | 1 |
| 63 | UGT1A1 | Crigler-Najjar syndrome, type I | AR | 1 |
| 64 | VPS33B | Arthrogryposis, renal dysfunction, and cholestasis 1 | AR | 5 |
aData includes repeat procedures. Individual TOP outcomes were not recorded to maintain the privacy of the families’ decisions. AR, autosomal recessive; AD, autosomal dominant; XL, X-linked