Table 1 Pathogenic and likely pathogenic variants detected in this study.
Case ID | Indications | Gestational age (weeks) | Gene | Variant | Zygosity | AF (gnomAD) | Type of variant | ACMG classification | OMIM diseases and inheritance | Disease category |
|---|---|---|---|---|---|---|---|---|---|---|
PL001 | Fetal demise | 21 5/7 | NPHS1 | NM_004646:c.2905delC, p.(Leu969Cysfs*32) | Het | 1/30,938 | FS | LP | Nephrotic syndrome, type 1; AR | Kidney disease |
NM_004646:c.3110–5C>T | Het | 1/6929 | SpR | VUS | ||||||
PL003 | Fetal anomaly | 22 2/7 | NEFL | NM_006158:c.493G>T, p.(Glu165*) | Het | 0 | Non | LP | Charcot–Marie–Tooth disease, type 1F; AD/AR | Neuropathy |
PL006 | Fetal anomaly of cystic hygroma | 11 | CHD7 | NM_017780:c.5428C>T, p.(Arg1810*) | Het | 0 | Non | LP | CHARGE syndrome; AD | Multisystem |
PL024 | Fetal anomaly | 20 5/7 | GFM1 | NM_024996:c.914delG, p.(Gly305Glufs*6) | Het | 0 | FS | LP | Combined oxidative phosphorylation deficiency 1; AR | Enzyme/metabolic |
NM_024996:c.1865A>G, p.(Asn622Ser) | Het | 1/141,341 | Mis | VUS | ||||||
PL031 | Fetal demise | Unknown | DCHS1 | NM_003737:c.6421C>T, p.(Arg2141*) | Het | 0 | Non | LP | Van Maldergem syndrome 1, AR; mitral valve prolapse 2; AD | Cardiac anomaly |
PL033 | Fetal demise | Unknown | PKD1 | NM_001009944:c.12124C>T, p.(Gln4042*) | Het | 0 | Non | P | Polycystic kidney disease 1; AD | Kidney disease |
PL043 | Missed abortion | 8 3/7 | AUTS2 | NM_015570:c.53C>A, p.(Ser18*) | Het | 0 | Non | LP | Mental retardation, autosomal dominant 26; AD | Neurodevelopmental disorder |
PL048 | Fetal demise | 15 | GATA4 | NM_002052:c.1325C>T, p.(Ala442Val) | Het | 1/62,871 | Mis | LP | GATA4-associated heart disease (OMIM 600576), AD | Cardiac anomaly |
PL052 | Missed abortion | 10 4/7 | FGFR3 | NM_000142:c.1537G>T, p.(Asp513Tyr) | Het | 0 | Mis | LP | LADD syndrome; AD | Multisystem |
PL055 | Fetal anomaly | 22 4/7 | PIK3R2 | NM_005027:c.1117G>A, p.(Gly373Arg) | Het | 0 | Mis | P | Megalencephaly–polymicrogyria–polydactyly–hydrocephalus syndrome 1; AD | CNS abnormality |
PL057 | Fetal anomaly | 13 3/7 | SMPD1 | NM_000543:c.1133G>A, p.(Arg378His) | Homo | 1/14,029 | Mis | P | Niemann–Pick disease, type A/B; AR | Enzyme/metabolic |
PL058 | Fetal anomaly | 19 4/7 | GPD1L | NM_015141:c.372A>G, p.(Ile124Met) | Het | 1/20,196 | Mis | LP | Brugada syndrome 2; AD | Arrhythmia |
PL059 | Fetal demise | 26 | F11 | NM_000128.3:c.1716+1G>A | Het | 1/125,746 | SpD | P | Factor XI deficiency; AD/AR | Coagulation |
PL060 | Spina bifida | 19 | FOXP2 | NM_014491.3:c.258+1G>A | Het | 1/250,396 | SpD | LP | Speech–language disorder 1; AD | Neurodevelopmental disorder |
PL061 | Fetal demise | 32 | SETD5 | NM_001080517:c.4106dupT, p.(Ser1370Glufs*10) | Het | 1/124,629 | FS | LP | Mental retardation, autosomal dominant 23; AD | Neurodevelopmental disorder |
PL066 | Fetal demise | 26 | ATP7B | NM_000053:c.3207C>A, p.(His1069Gln) | Homo | 1/1981 | Mis | P | Wilson disease; AR | Enzyme/metabolic |
PL067 | Skeletal dysplasia | 20 | FGFR3 | NM_000142:c.742C>T, p.(Arg248Cys) | Het | 0 | Mis | P | Thanatophoric dysplasia, type I; AD | Skeletal dysplasia |
PL072 | Fetal demise | 22 | SCN5A | NM_198056:c.5393G>A, p.(Trp1798*) | Het | 0 | Non | LP | SCN5A-associated cardiac diseases, AD | Arrhythmia |
PL073 | Fetal anomaly | 18 6/7 | GREB1L | NM_001142966:c.1305dupA, p.(Asp436Argfs*32) | Het | 0 | FS | LP | Renal hypodysplasia/aplasia 3; AD | Kidney disease |
PL076 | Embryonic demise | 7 | SMAD6 | NM_005585:c.652C>T, p.(Gln218*) | Het | 0 | Non | LP | Aortic valve disease, AD | Cardiac anomaly |
PL078 | Fetal demise | 16 | KIAA1109 | NM_015312:c.3986A>G, p.(Tyr1329Cys) | Het | 1/31,209 | Mis | LP | Alkuraya–Kucinskas syndrome; AR | Multisystem |
NM_015312:c.11093C>G, p.(Ser3698Cys) | Het | 1/69,995 | Mis | VUS | ||||||
PL088 | Fetal anomaly | 18 | NEB | NM_001271208:c.24094C>T, p.(Arg8032*) | Het | 1/2052 | Non | LP | Nemaline myopathy 2, AR | Myopathy |
NM_001271208:c.20098C>A, p.(Leu6700Ile) | Het | 1/2336 | Mis | VUS |
