Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience

Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience

Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families with a carrier parent. A cohort of ca...

Full description

Bibliographic Details
Main Authors: Erica Soster, Brittany Dyr, Samantha Caldwell, Amanda Sussman, Hany Magharyous
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:Genes
Subjects:
cell-free DNA (cfDNA)
noninvasive prenatal testing (NIPT)
prenatal screening
prenatal diagnosis
Emanuel syndrome
translocation
Online Access:https://www.mdpi.com/2073-4425/14/10/1924

Internet

https://www.mdpi.com/2073-4425/14/10/1924

Similar Items