Table 1 Variants in FGR cases with UPD detected by NIPT, CMA, WES, and CNV-seq.
Patient | Chr | Type of UPD | Parental origin | NIPT | WES clinical significance | CMA | Placenta CNV-seq/CMA | Clinical features |
|---|---|---|---|---|---|---|---|---|
P1 | 15 | Segmental iUPD with hUPD | Maternal | High risk of trisomy 15 | Prader-Willi syndrome | arr[hg19] 15q21.3q26.1(51,970,001_89370001) × 2 hmz | NA | Intrauterine growth retardation、Fetal distress |
P2 | 15 | iUPD | Maternal | High risk of trisomy 15 | Prader-Willi syndrome | arr[hg19]15q11.2q26.3(22,817,871_102,397,317) × 2 hmz | seq[hg19] dup(15) × 2–3 | Intrauterine growth retardation |
P3 | 6 | iUPD | Maternal | High risk of trisomy 6 | NM_014780.5(CUL7):c.509 T > G(p.Leu170Trp) (Uncertain significance) | arr(6) × 2 hmz | seq[hg19] dup(6) × 2 ~ 3 | Intrauterine growth retardation |
P4 | 6 | Segmental iUPD with hUPD | Maternal | High risk of trisomy 6 | Uncertain | arr[hg19] 6p25.3p23(203,878_13,411,320) × 2 hmz, 6p21.1p11.1(41,305,454_58,726,706) × 2 hmz, 6q11.1q14.1(61,972,918_75,972,465) × 2 hmz, 6q22.31q25.1(123,041,062_149,830,858) × 2 hmz | seq[hg19] (1–22) × 2,(XN) × 1 | Intrauterine growth retardation, Fetal distress, Oligohydramnios |
P5 | 2 | Segmental iUPD with hUPD | Maternal | High risk of Trisomy 2 | Uncertain | arr[hg19] 2p25.3p24.3(50,814_13,311,915) × 2 hmz, 2p21p11.2(45,974,85_87,053,152) × 2 hmz, 2q11.1q12.3(95,550,958_109,626,929) × 2 hmz 2q32.3q36.3(192,341,274_230,205,775) × 2 hmz | seq[hg19] dup(2) × 3 | Oligohydramnios, Abnormality of calvarial morphology, Stillbirth |
