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

被引：6

作者：

Kang, Kyung Min ^{[1
]}

Kim, Soo Hyun ^{[2
]}

Park, Ji Eun ^{[1
]}

Kim, Hyunjin ^{[1
]}

Jang, Hee Yeon ^{[1
]}

Go, Minyeon ^{[1
,3
]}

Yang, So Hyun ^{[1
]}

Ryu, Sang Woo ^{[4
]}

Bae, Sung Mi ^{[1
]}

Cha, Dong Hyun ^{[1
,2
]}

Shim, Sung Han ^{[1
,3
]}

机构：

[1] CHA Biotech Inc, Ctr Genome Diagnost, Seoul, South Korea

[2] CHA Univ, CHA Gangnam Med Ctr, Dept Obstet & Gynecol, Seoul, South Korea

[3] CHA Univ, Coll Life Sci, Dept Biomed Sci, Seongnam, South Korea

[4] Potato & Snowman Infertil Womens Clin, Seoul, South Korea

来源：

FRONTIERS IN MEDICINE | 2022年 / 9卷

基金：

新加坡国家研究基金会;

关键词：

placenta-derived cell free DNA; whole genome sequencing; non-invasive prenatal testing; confined placental mosaicism; mass parallel sequencing; DNA;

D O I：

10.3389/fmed.2022.1063480

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 chromosome Z-score = 3.6]. The patient underwent quantitative fluorescent (QF)-PCR and karyotyping at 14 + 0 weeks of pregnancy through CVS showing mosaicism of 47, XX, + 21[11] and 46, XX [39] in karyotyping. The patient underwent amniocentesis at 15 + 6 weeks, showing a normal pattern in QF-PCR and 46, XX karyotyping in long term culture. The second case underwent NIPT at 16 + 5 weeks of pregnancy (FF = 7.52%, 21 chromosome Z-score = 2.503). She underwent an invasive test at 19 weeks through amniotic fluid sampling. As a result, trisomy 21 was detected by QF-PCR, and mosaicism of XX, +21[22]/46, XX [4] was identified by karyotyping. Despite significant advances in fetal chromosome analysis using NIPT, invasive testing is still needed as placenta-derived DNA does not reflect 100% fetal genetic information. Placental mosaicism can be detected by NIPT, but more research is needed to increase its sensitivity. Therefore, if the NIPT result is positive, an invasive test can confirm the result, and continuous monitoring is required even if the NIPT result is negative.

引用

页数：11