Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

被引：33

作者：

Lannoo, Lore ^{[1
]}

van Straaten, Khaila ^{[2
]}

Breckpot, Jeroen ^{[3
]}

Brison, Nathalie ^{[3
]}

De Catte, Luc ^{[1
]}

Dimitriadou, Eftychia ^{[3
]}

Legius, Eric ^{[3
]}

Peeters, Hilde ^{[3
]}

Parijs, Ilse ^{[3
]}

Tsuiko, Olga ^{[3
]}

Vancoillie, Leen ^{[3
]}

Vermeesch, Joris Robert ^{[3
]}

Van Buggenhout, Griet ^{[3
]}

Van den Bogaert, Kris ^{[3
]}

Van Calsteren, Kristel ^{[1
]}

Devriendt, Koenraad ^{[3
]}

机构：

[1] Univ Hosp Leuven, Dept Obstet & Gynaecol, Div Woman & Child, Leuven, Belgium

[2] Katholieke Univ Leuven, Fac Med, Leuven, Belgium

[3] Univ Hosp Leuven, Dept Human Genet, Leuven, Belgium

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / 12期

关键词：

CONFINED PLACENTAL MOSAICISM; MATERNAL UNIPARENTAL DISOMY; CHROMOSOMAL MOSAICISM; CLINICAL BENEFIT; DIAGNOSIS; ANEUPLOIDY; AMNIOCENTESIS; PREGNANCIES; PATIENT; ORIGIN;

D O I：

10.1038/s41431-022-01147-1

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Non-invasive prenatal testing has been introduced for the detection of Trisomy 13, 18, and 21. Using genome-wide screening also other "rare" autosomal trisomies (RATs) can be detected with a frequency about half the frequency of the common trisomies in the large population-based studies. Large prospective studies and clear clinical guidelines are lacking to provide adequate counseling and management to those who are confronted with a RAT as a healthcare professional or patient. In this review we reviewed the current knowledge of the most common RATs. We compiled clinical relevant parameters such as incidence, meiotic or mitotic origin, the risk of fetal (mosaic) aneuploidy, clinical manifestations of fetal mosaicism for a RAT, the effect of confined placental mosaicism on placental function and the risk of uniparental disomy (UPD). Finally, we identified gaps in the knowledge on RATs and highlight areas of future research. This overview may serve as a first guide for prenatal management for each of these RATs.

引用

页码：1323 / 1330

页数：8

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