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Table 2 Results of 21 PKU families by NIPD and invasive diagnosis

From: Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

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
  1. c, a mutation in the nucleic acid level; p, mutations in protein levels, Y, consistency represents comparison the NIPT results with invasive testing results; N, normal.
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BMC Medical Genomics

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