Potential genetic causes of miscarriage in euploid pregnancies: a systematic review

流产 产科 医学 概念产品 妇科 怀孕 生物 流产 遗传学
作者
Emily Colley,Susan Hamilton,Paul Smith,Neil V. Morgan,Arri Coomarasamy,Stephanie Allen
出处
期刊:Human Reproduction Update [Oxford University Press]
卷期号:25 (4): 452-472 被引量:107
标识
DOI:10.1093/humupd/dmz015
摘要

Approximately 50% of pregnancy losses are caused by chromosomal abnormalities, such as aneuploidy. The remainder has an apparent euploid karyotype, but it is plausible that there are cases of pregnancy loss with other genetic aberrations that are not currently routinely detected. Studies investigating the use of exome sequencing and chromosomal microarrays in structurally abnormal pregnancies and developmental disorders have demonstrated their clinical application and/or potential utility in these groups of patients. Similarly, there have been several studies that have sought to identify genes that are potentially causative of, or associated with, spontaneous pregnancy loss, but the evidence has not yet been synthesized.The objective was to identify studies that have recorded monogenic genetic contributions to pregnancy loss in euploid pregnancies, establish evidence for genetic causes of pregnancy loss, identify the limitations of current evidence, and make recommendations for future studies. This evidence is important in considering additional research into Mendelian causes of pregnancy loss and appropriate genetic investigations for couples experiencing recurrent pregnancy loss.A systematic review was conducted in MEDLINE (1946 to May 2018) and Embase (1974 to May 2018). The search terms 'spontaneous abortion', 'miscarriage', 'pregnancy loss', or 'lethal' were used to identify pregnancy loss terms. These were combined with search terms to identify the genetic contribution including 'exome', 'human genome', 'sequencing analysis', 'sequencing', 'copy number variation', 'single-nucleotide polymorphism', 'microarray analysis', and 'comparative genomic hybridization'. Studies were limited to pregnancy loss up to 20 weeks in humans and excluded if the genetic content included genes that are not lethal in utero, PGD studies, infertility studies, expression studies, aneuploidy with no recurrence risk, methodologies where there is no clinical relevance, and complex genetic studies. The quality of the studies was assessed using a modified version of the Newcastle-Ottawa scale.A total of 50 studies were identified and categorized into three themes: whole-exome sequencing studies; copy number variation studies; and other studies related to pregnancy loss including recurrent molar pregnancies, epigenetics, and mitochondrial DNA aberrations. Putatively causative variants were found in a range of genes, including CHRNA1 (cholinergic receptor, nicotinic, alpha polypeptide 1), DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1), and RYR1 (ryanodine receptor 1), which were identified in multiple studies. Copy number variants were also identified to have a causal or associated link with recurrent miscarriage.Identification of genes that are causative of or predisposing to pregnancy loss will be of significant individual patient impact with respect to counselling and treatment. In addition, knowledge of specific genes that contribute to pregnancy loss could also be of importance in designing a diagnostic sequencing panel for patients with recurrent pregnancy loss and also in understanding the biological pathways that can cause pregnancy loss.

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
mywyj发布了新的文献求助10
1秒前
junyang完成签到,获得积分10
1秒前
研友_VZG7GZ应助犹豫嚣采纳,获得10
1秒前
马夋完成签到,获得积分20
1秒前
雪松发布了新的文献求助10
1秒前
2秒前
YY完成签到,获得积分20
5秒前
可爱可兰完成签到 ,获得积分10
6秒前
simpleblue完成签到 ,获得积分10
6秒前
6秒前
Turew应助空空采纳,获得30
8秒前
舒适行天完成签到,获得积分10
8秒前
高挑的马里奥完成签到,获得积分10
9秒前
9秒前
科研通AI2S应助筱筱采纳,获得10
10秒前
33应助激动的晓筠采纳,获得10
13秒前
zxx完成签到,获得积分10
13秒前
CBWKEYANTONG123完成签到,获得积分10
13秒前
仇道罡发布了新的文献求助10
14秒前
15秒前
PZD完成签到,获得积分10
15秒前
YY发布了新的文献求助10
16秒前
17秒前
新时代好青年完成签到,获得积分20
18秒前
18秒前
慕青应助耳与总采纳,获得10
18秒前
芜湖完成签到 ,获得积分10
19秒前
20秒前
21秒前
梓凝驳回了打打应助
23秒前
四十四次日落完成签到,获得积分10
24秒前
capybara完成签到 ,获得积分10
24秒前
25秒前
25秒前
大白牛完成签到,获得积分10
26秒前
gghh完成签到 ,获得积分10
27秒前
cctv18应助Sunnig盈采纳,获得10
28秒前
29秒前
29秒前
乾坤侠客LW完成签到,获得积分10
30秒前
高分求助中
The late Devonian Standard Conodont Zonation 2000
The Lali Section: An Excellent Reference Section for Upper - Devonian in South China 1500
Nickel superalloy market size, share, growth, trends, and forecast 2023-2030 1000
Smart but Scattered: The Revolutionary Executive Skills Approach to Helping Kids Reach Their Potential (第二版) 1000
Mantiden: Faszinierende Lauerjäger Faszinierende Lauerjäger 800
PraxisRatgeber: Mantiden: Faszinierende Lauerjäger 800
A new species of Coccus (Homoptera: Coccoidea) from Malawi 500
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3245702
求助须知:如何正确求助?哪些是违规求助? 2889414
关于积分的说明 8257992
捐赠科研通 2557725
什么是DOI,文献DOI怎么找? 1386510
科研通“疑难数据库(出版商)”最低求助积分说明 650327
邀请新用户注册赠送积分活动 626672