ArticleHuman mutation2017
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.Molecular genetics & genomic medicine · 2023Pooled it
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- The hidden causes of pregnancy loss: a closer look.Journal of translational medicine · 2025Article
- Is intermediate risk really intermediate? Comparison of karyotype and non-invasive prenatal testing results of pregnancies at intermediate risk of trisomy 21 on maternal serum screening.Journal of genetic counseling · 2025Article
- Research overview and hotspots in the field of recurrent miscarriage: A literature-mining study.Frontiers in medicine · 2025Review
- Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China.The Journal of international medical research · 2024Article
- The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes.Journal of assisted reproduction and genetics · 2024Article
- Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.Nature medicine · 2023Article
- Analysis of potential copy-number variations and genes associated with first-trimester missed abortion.Heliyon · 2023Article
- Chromosomal abnormalities in recurrent pregnancy loss and its association with clinical characteristics.Journal of assisted reproduction and genetics · 2023Article
- Trophoblast retrieval from the cervical canal to predict abnormal pregnancy early in gestation: a pilot study.BMC pregnancy and childbirth · 2023Article
- The embryo mosaicism profile of next-generation sequencing PGT-A in different clinical conditions and their associations.Frontiers in reproductive health · 2023Article
- Distribution and transmission of copy number variations of uncertain significance in 105 trios.Molecular genetics & genomic medicine · 2022Article
- Prioritization of putatively detrimental variants in euploid miscarriages.Scientific reports · 2022Article
- A rigorousFrontiers in molecular neuroscience · 2022Article
- Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principlesTurkish journal of medical sciences · 2021Article
- Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues.Molecular cytogenetics · 2021Article
- Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples.Life (Basel, Switzerland) · 2021Article
- Characterization of Copy-Number Variations and Possible Candidate Genes in Recurrent Pregnancy Losses.Genes · 2021Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
Detailed characterization of chromosomal abnormalities, a common cause for congenital abnormalities and pregnancy loss, is critical for elucidating genes for human fetal development. Here, 2,186 product-of-conception samples were tested for copy-number variations (CNVs) at two clinical diagnostic centers using whole-genome sequencing and high-resolution chromosomal microarray analysis. We developed a new gene discovery approach to predict potential developmental genes and identified 275 candidate genes from CNVs detected from both datasets. Based on Mouse Genome Informatics (MGI) and Zebrafish model organism database (ZFIN), 75% of identified genes could lead to developmental defects when mutated. Genes involved in embryonic development, gene transcription, and regulation of biological processes were significantly enriched. Especially, transcription factors and gene families sharing specific protein domains predominated, which included known developmental genes such as HOX, NKX homeodomain genes, and helix-loop-helix containing HAND2, NEUROG2, and NEUROD1 as well as potential novel developmental genes. We observed that developmental genes were denser in certain chromosomal regions, enabling identification of 31 potential genomic loci with clustered genes associated with development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.