Table 2 Results of 21 PKU families by NIPD and invasive diagnosis
Pedigree | Proband | Father | Mother | NIPT results | Invasive test results | Consistency |
|---|---|---|---|---|---|---|
F01 | c.782G>A(p.Arg261Gln) c.194T>C(p.Ile65Thr) | c.194T>C(p.Ile65Thr) | c.782G>A(p.Arg261Gln) | Affected | Affected | Y |
F02 | c.782G>A(p.Arg261Gln) c.1068C>A(p.Tyr356Ter) | c.782G>A(p.Arg261Gln) | c.1068C>A(p.Tyr356Ter) | Affected | Affected | Y |
F03 | c.526C>T(p.Arg176Ter) c.1197A>T(p.Val399Val) | c.1197A>T(p.Val399Val) | c.526C>T(p.Arg176Ter) | Paternal mutation carriers | Paternal mutation carriers | Y |
F04 | c.721C>T(p.Arg241Cys) c.728G>A(p.Arg243Gln) | c.728G>A(p.Arg243Gln) | c.721C>T(p.Arg241Cys) | N | N | Y |
F05 | c.442-1G>A(p.IVS4-1G>A) c.1197A>T(p.Val399Val) | c.1197A>T(p.Val399Val) | c.442-1G>A(p.IVS4-1G>A) | Paternal mutation carriers | Paternal mutation carriers | Y |
F06 | c.728G>A(p.Arg243Gln) c.728G>A(p.Arg243Gln) | c.728G>A(p.Arg243Gln) | c.728G>A(p.Arg243Gln) | Paternal mutation carriers | Paternal mutation carriers | Y |
F07 | c.331C>T(p.Arg111Ter) c.611A>G(p.Tyr204Cys) | c.611A>G(p.Tyr204Cys) | c.331C>T(p.Arg111Ter) | Affected | Affected | Y |
F08 | c.1194A>G(p.Lys398Lys) c.1238G>C(p.Arg413Pro) | c.1238G>C(p.Arg413Pro) | c.1194A>G(p.Lys398Lys) | Affected | Affected | Y |
F09 | c.611A>G(p.Tyr204Cys) c.728G>A(p.Arg243Gln) | c.611A>G(p.Tyr204Cys) | c.728G>A(p.Arg243Gln) | Paternal mutation carriers | Paternal mutation carriers | Y |
F10 | c.611A>G(p.Tyr204Cys) c.782G>A(p.Arg261Gln) | c.611A>G(p.Tyr204Cys) | c.782G>A(p.Arg261Gln) | N | N | Y |
F11 | c.721C>T(p.Arg241Cys) c.721C>T(p.Arg241Cys) | c.721C>T(p.Arg241Cys) | c.721C>T(p.Arg241Cys) | Paternal mutation carriers | Paternal mutation carriers | Y |
F12 | c.721C>T(p.Arg241Cys) c.331C>T(p.Arg111Ter) | c.721C>T(p.Arg241Cys) | c.331C>T(p.Arg111Ter) | Maternal mutation carriers | Maternal mutation carriers | Y |
F13 | c.968C>T(p.Thr241Ile) c.208_210delTCT(p.Ser70del) | c.208_210delTCT(p.Ser70del) | c.968C>T(p.Thr241Ile) | Paternal mutation carriers | Paternal mutation carriers | Y |
F14 | c.232_235delGAAT(p.Glu78Phefs*13) E5_E6del | c.232_235delGAAT(p.Glu78Phefs*13) | E5_E6del | Maternal mutation carriers | Maternal mutation carriers | Y |
F15 | c.116_118delTTC(p.Phe39del) c.526C>T(p.Arg176Ter) | c.116_118delTTC(p.Phe39del) | c.526C>T(p.Arg176Ter) | Affected | Affected | Y |
F16 | c.482T>C(p.Phe161Ser) c.1197A>T(p.Val399Val) | c.482T>C(p.Phe161Ser) | c.1197A>T(p.Val399Val) | N | N | Y |
F17 | c.722delG(p.Arg241Profs) c.1238G>C(p.Arg413Pro) | c.1238G>C(p.Arg413Pro) | c.722delG(p.Arg241Profs) | Maternal mutation carriers | Maternal mutation carriers | Y |
F18 | c.728G>A(p.Arg243Gln) c.442-1G>A(IVS4-1G>A) | c.728G>A(p.Arg243Gln) | c.442-1G>A(IVS4-1G>A) | Maternal mutation carriers | Maternal mutation carriers | Y |
F19 | c.331C>T(p.Arg111Ter) c.1301C>A(p.Ala434Asp) | c.1301C>A(p.Ala434Asp) | c.331C>T(p.Arg111Ter) | N | N | Y |
F20 | c.728G>A(p.Arg243Gln) c.728G>A(p.Arg243Gln) | c.728G>A(p.Arg243Gln) | c.728G>A(p.Arg243Gln) | Affected | Affected | Y |
F21 | c.442-1G>A(p.IVS4-1G>A) c.875C>T(p.Pro3292Leu) | c.875C>T(p.Pro3292Leu) | c.442-1G>A(p.IVS4-1G>A) | Maternal mutation carriers | Maternal mutation carriers | Y |