Table 4 The results of exome sequencing in seven fetuses with SA and(or) SV
Case | MA | GA | Clinical CHD phenotypes | Structural anomalies other than CHD | Genetic results | Nature | inheritance | Outcome |
|---|---|---|---|---|---|---|---|---|
1 | 29 | 23+1 | SA, double outlet of right ventricle | / | NM_002816.3(PSMD12):c.347C > T(p.Thr116Ile) | VUS | Maternal | TP |
2 | 27 | 24+3 | SA | short limbs and narrow thorax | NM_147127.4(EVC2):c.1195C > T(p.Arg399*) NM_147127.4(EVC2):c.1987G > T(p.Glu663*) | P | Paternal Maternal | TP |
3 | 31 | 22+4 | SA, double outlet of right ventricle, VSD | absence of spleen | NM_003482.3(KMT2D):c.2264G > C(p.Arg755Pro) | VUS | Unknown | TP |
4 | 31 | 23+2 | SV, transposition of great arteries | heterotaxy | NM_003482.3(KMT2D):c.16351 T > C(p.Tyr5451His) | VUS | Paternal | TP |
5 | 31 | 19+5 | SV, permanent arterial trunk | / | NM_000860.5(HPGD):c.310_311delCT(p.Leu104Alafs*3) | P | De novo | TP |
6 | 30 | 19+6 | SA + SV | / | NM_007373.3(SHOC2):c.1273G > A(p.Val425Ile) NM_001039590.2(USP9X):c.5844 T > C(p.Ala1948Ala) NM_014008.3(CCDC22):c.1820G > A(p.Arg607Gln) | VUS | Maternal Maternal Paternal | TP |
7 | 30 | 23+1 | SA + SV,permanent arterial trunk | / | NM_016008.3(DYNC2LI1):c.574C > G(p.Gln192Glu) NM_015662.1(IFT172):c.918A > G(p.Leu306Leu) NM_015662.1(IFT172):c.3052C > T(p.Arg1018Cys) | VUS | Maternal Maternal Paternal | TP |
8 | 29 | 22+1 | SA + SV | / | arr[hg19]16p12.2(21,740,199–22,442,007) × 1 | P | De novo | TP |