Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports

Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports

We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy 21 [fetal fraction (FF) = 6.98%, 21 chromosom...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Kyung Min Kang, Soo Hyun Kim, Ji Eun Park, Hyunjin Kim, Hee Yeon Jang, Minyeon Go, So Hyun Yang, Sang Woo Ryu, Sung Mi Bae, Dong Hyun Cha, Sung Han Shim
Format: Artikel
Sprache:English
Veröffentlicht: Frontiers Media S.A. 2022-12-01
Schriftenreihe:Frontiers in Medicine
Schlagworte:
placenta-derived cell free DNA
whole genome sequencing
non-invasive prenatal testing
confined placental mosaicism
mass parallel sequencing
Online Zugang:https://www.frontiersin.org/articles/10.3389/fmed.2022.1063480/full

Online

https://www.frontiersin.org/articles/10.3389/fmed.2022.1063480/full

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