Digynic triploidy: utility and challenges of noninvasive prenatal testing

Clinical Case Reports

Julie Fleischer³  Archana Shenoy²  Katherine Goetzinger¹  Catherine E. Cottrell²  Dustin Baldridge³  Frances V. White² 

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

关键词: cffDNA;    digyny;    NIPT;    SNP array;    triploidy;   

DOI  :  10.1002/ccr3.247

来源: Wiley

【 摘 要 】

Key Clinical Message

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.

【 授权许可】

CC BY-NC-ND   
© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.