Biological explanations for discordant noninvasive prenatal test results: Preliminary data and lessons learned.
Louise E Wilkins-HaugChengsheng ZhangEliza CerveiraMallory RyanAdam Mil-HomensQihui ZhuHoney ReddiCharles LeeDiana W BianchiPublished in: Prenatal diagnosis (2019)
Understanding the biology behind cfDNA-fetal karyotype discordancy is useful for follow-up clinical care. Our study suggests that most cases could be resolved by using a trio biospecimen protocol and parental involvement. To improve accuracy, additional sequencing of biospecimens will be required.