SynthesisJournal of assisted reproduction and genetics2019
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.
Synthesis in Journal of assisted reproduction and genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review.Frontiers in immunology · 2023Pooled it
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- Monogenic Findings in Early Pregnancy Loss: Whole-Exome Sequencing Study of Euploid Products of Conception.Balkan journal of medical genetics : BJMG · 2025Article
- Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.Journal of human genetics · 2025Article
- Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing.European journal of medical research · 2025Article
- Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners.Epigenetics & chromatin · 2025Article
- PLoV: a comprehensive database of genetic variants leading to pregnancy loss.Database : the journal of biological databases and curation · 2025Article
- Whole-Exome Sequencing in Recurrent Pregnancy Loss: Current Evidence and Future Directions in Saudi Arabia.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025Review
- Lethal phenotypes in Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants.Human genetics · 2024Article
- A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.Molecular genetics & genomic medicine · 2024Article
- Lethal phenotypes in Mendelian disorders.medRxiv : the preprint server for health sciences · 2024Article
- Essential genes: a cross-species perspective.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Case Report: Novel compound heterozygous variants inFrontiers in genetics · 2022Article
- Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.Journal of the American Heart Association · 2021Article
- RNA Sequencing of Decidua Reveals Differentially Expressed Genes in Recurrent Pregnancy Loss.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Reproductive Outcomes from Maternal Loss of Nlrp2 Are Not Improved by IVF or Embryo Transfer Consistent with Oocyte-Specific Defect.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure.Geburtshilfe und Frauenheilkunde · 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
- Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a Chinese Cohort.Frontiers in genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
purposeNon-aneuploid recurrent pregnancy loss (RPL) affects approximately 100,000 pregnancies worldwide annually. Exome sequencing (ES) may help uncover the genetic etiology of RPL and, more generally, pregnancy loss as a whole. Previous studies have attempted to predict the genes that, when disrupted, may cause human embryonic lethality. However, predictions by these early studies rarely point to the same genes. Case reports of pathogenic variants identified in RPL cases offer another clue. We evaluated known genetic etiologies of RPL identified by ES.
methodsWe gathered primary research articles from PubMed and Embase involving case reports of RPL reporting variants identified by ES. Two authors independently reviewed all articles for eligibility and extracted data based on predetermined criteria. Preliminary and amended analysis isolated 380 articles; 15 met all inclusion criteria.
resultsThese 15 articles described 74 families with 279 reported RPLs with 34 candidate pathogenic variants in 19 genes (NOP14, FOXP3, APAF1, CASP9, CHRNA1, NLRP5, MMP10, FGA, FLT1, EPAS1, IDO2, STIL, DYNC2H1, IFT122, PADI6, CAPS, MUSK, NLRP2, NLRP7) and 26 variants of unknown significance in 25 genes. These genes cluster in four essential pathways: (1) gene expression, (2) embryonic development, (3) mitosis and cell cycle progression, and (4) inflammation and immunity.
conclusionsFor future studies of RPL, we recommend trio-based ES in cases with normal parental karyotypes. In vitro fertilization with preimplantation genetic diagnosis can be pursued if causative variants are found. Utilization of other sequencing technologies in concert with ES should improve understanding of the causes of early embryonic lethality in humans.
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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.