Digynic triploidy: utility and challenges of noninvasive prenatal testing

Julie Fleischer; Archana Shenoy; Katherine Goetzinger; Catherine E Cottrell; Dustin Baldridge; Frances V White; Marwan Shinawi

doi:10.1002/ccr3.247

Digynic triploidy: utility and challenges of noninvasive prenatal testing

Clin Case Rep. 2015 Jun;3(6):406-10. doi: 10.1002/ccr3.247. Epub 2015 Apr 9.

Authors

Julie Fleischer¹, Archana Shenoy², Katherine Goetzinger³, Catherine E Cottrell², Dustin Baldridge¹, Frances V White², Marwan Shinawi¹

Affiliations

¹ Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine St. Louis, Missouri.
² Department of Pathology and Immunology, Washington University School of Medicine St. Louis, Missouri.
³ Department of Obstetrics and Gynecology, Washington University School of Medicine St. Louis, Missouri.

Abstract

Low fraction fetal DNA in noninvasive prenatal testing in the context of fetal growth restriction and multiple congenital anomalies should alert medical professionals to the possibility of digynic triploidy. Single-nucleotide polymorphism microarray can detect the parental origin of triploidy and explain its mechanism.

Keywords: NIPT; SNP array; cffDNA; digyny; triploidy.

Publication types

Case Reports