Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffdna screening

HIGHLIGHTS

• who: Junjie Hu from the A, year-old healthy woman who had a singleton pregnancy referred to the Department of Reproductive Genetics, Women`s Hospital, School of Medicine, Zhejiang UniversityPeripheral blood sample was subjected to NIPT at, th weeks of gestation. High risk of trisomy , was identified (Fig., ). To confirm the results, amniocentesis was conducted at, rd weeks offetal sample was further analyzed by karyotyping, SNP-array, FISH and Bobsu2122. In addition, hydronephrosis and irregular spine were observed in the fetal sonography and magnetic resonance imaging (MRI) at the, th and, th week of gestation, respectively (Fig . . .
  

   

  

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