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足月胎盘非整倍体单亲二体嵌合体的意外发现：它是三倍体胎盘的常见特征吗？

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

机构信息

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

Department of Obstetrics and Prenatal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.

出版信息

Prenat Diagn. 2018 Nov;38(12):911-919. doi: 10.1002/pd.5354. Epub 2018 Sep 27.

DOI:10.1002/pd.5354
PMID:30187503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6282787/
Abstract

OBJECTIVE

Non-invasive prenatal testing (NIPT) detects placental chromosome aberrations. When amniocentesis reveals a normal karyotype, confined placental mosaicism (CPM) may be assumed. In order to confirm this, placental cytogenetic studies were performed.

METHOD

NIPT was conducted in the course of the Dutch TRIDENT study. Placentas of 10 cases with NIPT results indicating an autosomal trisomy and showing a normal (N = 9) or low mosaic karyotype (N = 1) in amniotic fluid (AF) were investigated. The cytotrophoblast as well as the mesenchymal core of two to four placental chorionic villi biopsies were studied with single nucleotide polymorphism (SNP) array. Clinical outcome data were collected.

RESULTS

In 10/10 cases, CPM was proven. In 3/10 cases trisomy/uniparental disomy (UPD)/biparental disomy (BPD) mosaicism was discovered. In 2/3 cases, all three cell lines were present in the placenta, whereas BPD was found in AF. In 1/3 cases trisomy 22/UPD22 was present in AF while trisomy 22/BPD22 mosaicism was found in the placenta. Five of 10 pregnancies were affected with pre-eclampsia, low birth weight, preterm delivery, and/or congenital malformations.

CONCLUSION

The presence of trisomy/UPD/BPD mosaicism in 3/10 cases that we investigated proves that trisomic zygote rescue may involve multiple rescue events during early embryogenesis. UPD mosaicism, when present in crucial fetal tissues, may explain the abnormal phenotype in undiagnosed cases.

摘要

目的

非侵入性产前检测（NIPT）可检测胎盘染色体异常。当羊水细胞染色体核型分析结果正常时，推测可能存在局限的胎盘嵌合体（CPM）。为了确认这一点，我们进行了胎盘细胞遗传学研究。

方法

NIPT 是在荷兰 TRIDENT 研究中进行的。我们研究了 10 例 NIPT 结果提示常染色体三体，而羊水细胞染色体核型分析结果正常（N=9）或低嵌合体（N=1）的胎盘。我们对 2 至 4 个胎盘绒毛活检的滋养层细胞和间质核心进行了单核苷酸多态性（SNP）微阵列分析。收集了临床结局数据。

结果

在 10/10 例中，证实了 CPM 的存在。在 3/10 例中，发现了三体/单亲二体性（UPD）/双亲二体性（BPD）嵌合体。在 2/3 例中，所有三种细胞系均存在于胎盘，而 BPD 存在于羊水。在 1/3 例中，22 三体/UPD22 存在于羊水，而 22 三体/BPD22 嵌合体存在于胎盘。在 10 例妊娠中，有 5 例受到子痫前期、低出生体重、早产和/或先天性畸形的影响。

结论

在我们研究的 10 例中，有 3 例存在三体/UPD/BPD 嵌合体，这证明了三体合子拯救可能涉及早期胚胎发生过程中的多次拯救事件。当 UPD 嵌合体存在于关键的胎儿组织中时，可能解释了未诊断病例的异常表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cff8/6282787/883ffeb7d97e/PD-38-911-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cff8/6282787/baecf88a0388/PD-38-911-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cff8/6282787/aa41b71cb41c/PD-38-911-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cff8/6282787/883ffeb7d97e/PD-38-911-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cff8/6282787/baecf88a0388/PD-38-911-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cff8/6282787/aa41b71cb41c/PD-38-911-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cff8/6282787/883ffeb7d97e/PD-38-911-g003.jpg

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Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.全基因组 NIPS 检测到的常见三体以外的染色体异常的起源和临床相关性：TRIDENT 研究结果。
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中国西南地区无创产前筛查结果呈阳性后的产前诊断技术临床选择
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