Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing.

Zhang F, Yin T, Tang X, et al. J Assist Reprod Genet. 2023;40(9):2233-2240. doi:10.1007/s10815-023-02896-8.

Tags: Case Report / Case Series, 2023, China, CNVs

  • “NIPT results showed increased signal from chromosome 12p. Subsequent prenatal diagnostic testing by karyotype revealed 47,XY,+i(12p), and CMA displayed four copies of 12p: 12p13.33-12p11.1(173786_34835641)×4. The CNV-seq results of the fetal skin and the fetal side of placenta showed four copies of 12p13.33-p11 and an estimated chimeric duplication of 34.08 Mb (chimerism ratio: 10%) in 12p13.33-p11, respectively. However, no abnormality was detected by CNV-seq at the maternal side of placenta. Our findings suggest that a positive signal from chromosome 12p on NIPT should raise suspicion for PKS [Pallister-Killian syndrome]. With the wide application of NIPT, the true positive of incidental finding is expected to increase.”