Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed GP , a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821623PMC
http://dx.doi.org/10.1038/s41598-022-05737-3DOI Listing

Publication Analysis

Top Keywords

associated miscarriages
8
prioritization putatively
4
putatively detrimental
4
detrimental variants
4
variants euploid
4
euploid miscarriages
4
miscarriages miscarriage
4
miscarriage spontaneous
4
spontaneous termination
4
termination pregnancy
4

Similar Publications

Adenomyosis patterns on transvaginal sonography could predict the obstetrical outcomes of fertility-sparing surgeries: A retrospective cohort study.

J Minim Invasive Gynecol

January 2025

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing 100730, China; National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China; State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Beijing 100730, China. Electronic address:

Study Objective: To explore the associations between adenomyosis patterns on transvaginal sonography (TVS) and surgical outcomes.

Design: A retrospective cohort study.

Setting: Peking Union Medical College Hospital, Beijing, China.

View Article and Find Full Text PDF

Association between individual urinary iodine concentrations in pregnant women and maternal/newborn outcomes: a systematic review and meta-analysis.

Endocr Connect

January 2025

V Nunes-Nogueira, Universidade Estadual Paulista Júlio de Mesquita Filho Faculdade de Medicina - Câmpus de Botucatu, Botucatu, 18618-687, Brazil.

Objective: To assess whether individual diagnosis of low urinary iodine concentration (UIC) in pregnant women is associated with adverse maternal and neonatal outcomes.

Methods: Studies that compared pregnant women with UIC <150 μg/L and those with UIC 150-249 μg/L were systematically reviewed. MEDLINE, EMBASE, LILACS, and CENTRAL were our source databases.

View Article and Find Full Text PDF

Objectives: Significant associations between pregnancy loss and risk of future maternal cardiovascular disease (CVD) have been found in Western countries, but the association in China is still unclear. Therefore, this study aimed to investigate the associations of pregnancy loss, number of pregnancy losses, subtype of pregnancy loss (i.e.

View Article and Find Full Text PDF

To investigate the fertility status, pregnancy outcomes, and disease activity during and after pregnancy in patients with juvenile idiopathic arthritis (JIA) currently being followed up at an adult rheumatology clinic. This study included 141 adult patients diagnosed with according to the International League of Associations for Rheumatology criteria, who are now monitored at an adult rheumatology clinic. Data on demographics, disease characteristics, medication history, fertility status, and pregnancy outcomes were collected through medical records and patient interviews.

View Article and Find Full Text PDF

Background: Many studies have indicated an association between maternal occupational exposure to hazardous agents, such as anticancer drugs and ionizing radiation, and an increased risk of adverse pregnancy outcomes, including stillbirths or miscarriages and physical abnormalities in offspring. However, the effects of recent advancements in protective measures to reduce these risks have not been clarified. Aim To investigate the current impact of parental occupational exposure to anticancer drugs and ionizing radiation on stillbirths or miscarriages as well as physical abnormalities under the circumstances of the developed safety protocols.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!