Table 3 Seven at-risk couples and three at-risk females with confirmed test results of their subsequent pregnancies.
From: Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China
No | Gene | P/LP Variant | Origin | Follow-up |
|---|---|---|---|---|
AR-CP6 | CYP21A2 | NM_000500.7:c.844G > T(p.Val282Leu) | Female | Non-carrier in amniocentesis; live birth |
NM_000500.7:c.955C > T(p.Gln319*) | Male | |||
AR-CP16 | HBA1/2 | αα/–SEA(p.?) | Female | Non-carrier in amniocentesis; live birth |
αα/-α4.2(p.?) | Male | |||
AR-CP4 | SLC22A5 | NM_003060.3:c.338G > A(p.Cys113Tyr) | Female | Heterozygous carrier in amniocentesis; live birth |
NM_003060.3:c.51C > G(p.Phe17Leu) | Male | |||
AR-CP7 | PCDH15 | NM_033056.3:c.3651del(p.Phe1218Serfs*15) | Female | Heterozygous carrier in amniocentesis; live birth |
NM_033056.3:c.2971C > T(p.Arg991*) | Male | |||
AR-CP10 | RYR1 | NM_000540.2:c.13027_13028dup(p.Gly4344Leufs*32) | Female | Heterozygous carrier in amniocentesis; live birth |
NM_000540.2:c.4484G > A(p.Trp1495*) | Male | |||
AR-CP21 | CPS1 | NM_001875.4:c.1912C > T(p.Arg638*) | Female | Heterozygous carrier in amniocentesis; live birth |
NM_001875.4:c.2407C > G(p.Arg803Gly) | Male | |||
AR-CP19 | AGXT | NM_000030.2:c.358 + 1G > C(p.?) | Female | Compound heterozygous in amniocentesis; induced abortion |
NM_000030.2:c.2 T > C(p.?) | Male | |||
XL-SF4 | F8 | NM_000132.3:c.5820_5834delins33(p.Asn1941_Met1945delins11) | Female | IVF |
XL-CP2 | DMD | NM_004006.3:ex.48del(p.?) | Female | Male fetus positive in amniocentesis; induced abortion |
XL-CP4 | CHM | NM_000390.3:c.613_614del(p.Asp205Tyrfs*17) | Female | Positive in amniocentesis; natural birth of an affected male infant |
