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Objective  The aim is to develop a novel noninvasive prenatal testing (NIPT) method that simultaneously performs fetal aneuploidy screening and the detection of  de novo  and paternally derived mutations.    Methods  A total of 68 pregnancies, including 26 normal pregnancies, 7 cases with fetal aneuploidies, 7 cases with fetal achondroplasia or thanatophoric dysplasia, 18 cases with fetal skeletal abnormalities, and 10 cases with  β ‐thalassemia high risk were recruited. Plasma cell‐free DNA was amplified by Targeted And Genome‐wide simultaneous sequencing (TAGs‐seq) to generate around 99% of total reads covering the whole‐genome region and around 1%  covering the target genes. The reads on the whole‐genome region were analyzed for fetal aneuploidy using a binary hypothesis T‐score and the reads on target genes were analyzed for point mutations by calculating the minor allelic frequency of loci on  FGFR3  and  HBB . TAGs‐seq results were compared with conventional NIPT and diagnostic results.    Results  In each sample, TAGs‐seq generated 44.7–54 million sequencing reads covering the whole‐genome region of 0.1–3× and the target genes of >1000×depth. All cases of fetal aneuploidy and  de novo  mutations of achondroplasia/thanatophoric dysplasia were identified with high sensitivities and specificities except for one false‐negative paternal mutation of  β‐ thalassemia.    Conclusions  TAGs‐seq is a novel NIPT method that combines the fetal aneuploidy screening and the detection of  de novo   FGFR3  mutations and paternal  HBB  mutations.

prenatal diagnosis

Simultaneous detection of fetal aneuploidy,  de novo   FGFR3  mutations and paternally derived  β ‐thalassemia by a novel method of noninvasive prenatal testing