Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study

Workalemahu, Tsegaselassie; Avery, Cecile; Lopez, Sarah; Blue, Nathan R.; Wallace, Amelia D.; Quinlan, Aaron R.; Coon, Hilary; Warner, D.H.; Varner, Michael W.; Branch, D. Ware; Jorde, Lynn B.; Silver, Robert M.

doi:10.1371/journal.pone.0281934

Cited by 7 publications

(4 citation statements)

References 61 publications

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“…A recent study utilizing whole-genome sequencing (WGS) in couples experiencing recurrent miscarriages revealed that SV, associated with embryo loss and fetal death, affects the functionality of well-known reproductive genes, including FBN2 [34]. Genetic variations in FBN2 can also contribute to pregnancy loss [35].…”

Section: Discussionmentioning

confidence: 99%

Proteomics analysis revealed the mechanism of differential egg productive in geese

Yang,

Jia,

et al. 2024

Preprint

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Background The Western Anhui white goose is a highly esteemed breed in our country, renowned for its superior meat quality and exceptional egg-laying performance. As the primary reproductive organ in poultry, the ovary significantly influences the sexual maturation and reproductive capacity of female animals. Understanding the molecular basis underlying nesting behavior in geese relies on understanding the variations in ovarian proteins during different nesting periods. To investigate the effect of proteins on nesting behavior and fecundity, we selected ovarian tissues from three high-and three low-fertility Wanxi white geese. Result By employing a tandem mass-tag-based quantitative proteomics method, we successfully identified 4611 proteins, of which 111 exhibited significant differences. KEGG enrichment analysis revealed that these differentially expressed proteins were primarily associated with glycolysis and folate biosynthesis pathways. Furthermore, our protein-protein interaction network analysis demonstrated that the interacting proteins predominantly participated in ribosome function as well as amino acid and carbohydrate metabolism. Conclusions The findings of this study establish a foundation for elucidating the molecular mechanism underlying variations in ovarian protein levels among Wanxi white geese with different fecundity.

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Section: Discussionmentioning

confidence: 99%

Proteomics analysis revealed the mechanism of differential egg productive in geese

Yang,

Jia,

et al. 2024

Preprint

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“…Secondly, due to the different delivery hospitals of the participants, although we have tried to collect data on obstetric deliveries as much as possible, there may be some bias. Recurrent miscarriage is above all a di cult area in reproductive medicine because its causes are often unknown and diagnostic and therapeutic strategies are based on scarce evidence [29] , [30]. Chinese Government will allow up to three children per couple will do little to boost startlingly low fertility rates [31] In addition to encouraging couples of childbearing age to increase the number of hospitals where they have children, we hope to focus on more potential risk factors that may jeopardize the fertility of women of childbearing age, and to call attention to the importance of fertility preservation for couples of childbearing age and to alleviate the stresses that they may face in the process of childbearing.…”

Section: Discussionmentioning

confidence: 99%

A nested case-control study of factors influencing adverse pregnancy outcomes in women with previous pregnancy loss

Liu,

Wang,

Wang

et al. 2023

Preprint

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Recurrent pregnancy loss is common in women of childbearing age and also causes great physical and psychological harm to patients and families, but the relationship between the number of previous miscarriages and the risk of adverse pregnancy outcomes in subsequent pregnancies is unclear. The purpose of this study is to provide clinical data to support whether the number of previous pregnancy losses increases the risk of adverse pregnancy outcomes in women with a history of previous pregnancy losses. We conducted a cohort-based, nested case-control study and recruited 1074 women with a history of pregnancy loss. Detailed demographic and medical history information was collected at baseline, and biological specimens were retained for laboratory testing. Adverse pregnancy outcomes (APOs) were chosen as the primary outcome indicator, with cases being defined as individuals who experienced any APOs events. Cases were matched with event-free control subjects at a 1:2 ratio. We used conditional logistic regression to examine the relationship between the number of previous pregnancy losses and APOs events, using age at first pregnancy as the reference exposure. We identified 358 cases with APOs events and 716 controls. The occurrence of APOs was associated with an increased number of previous pregnancy loss exposures compared to controls without APOs (OR: 1.36; 95% CI: 1.14 to 1.61), which persisted after considering patient demographics, total number of previous pregnancy history, and other exposures (aOR: 1.75; 95% CI: 1.28 to 2.4). In addition, we found that age at first pregnancy within a certain range may also be a risk factor for APOs.

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“…Fetal chromosomal abnormalities are associated with 50% of first-trimester miscarriages, while the etiology of pregnancy loss in the remaining 50% of cases with normal karyotype and chromosomal microarray analysis remains unexplained (Hardy and Hardy 2018 ). Recent exome sequencing studies have begun to uncover deleterious variants in specific genes that cause euploid pregnancy loss (Najafi et al 2021 ; Rajcan-Separovic 2020 ; Robbins et al 2019 ; Workalemahu et al 2023 ; Xiang et al 2021 ; Zhao et al 2021 ). However, the spectrum of genes associated with human lethality and pregnancy loss remains understudied.…”

Section: Introductionmentioning

confidence: 99%

Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants

Aminbeidokhti,

Qu,

Belur

et al. 2024

Hum. Genet.

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Purpose Miscarriage, often resulting from a variety of genetic factors, is a common pregnancy outcome. Preconception genetic carrier screening (PGCS) identifies at-risk partners for newborn genetic disorders; however, PGCS panels currently lack miscarriage-related genes. In this study, we evaluated the potential impact of both known and candidate genes on prenatal lethality and the effectiveness of PGCS in diverse populations. Methods We analyzed 125,748 human exome sequences and mouse and human gene function databases. Our goals were to identify genes crucial for human fetal survival (lethal genes), to find variants not present in a homozygous state in healthy humans, and to estimate carrier rates of known and candidate lethal genes in various populations and ethnic groups. Results This study identified 138 genes in which heterozygous lethal variants are present in the general population with a frequency of 0.5% or greater. Screening for these 138 genes could identify 4.6% (in the Finnish population) to 39.8% (in the East Asian population) of couples at risk of miscarriage. This explains the cause of pregnancy loss in approximately 1.1–10% of cases affected by biallelic lethal variants. Conclusion This study has identified a set of genes and variants potentially associated with lethality across different ethnic backgrounds. The variation of these genes across ethnic groups underscores the need for a comprehensive, pan-ethnic PGCS panel that includes genes related to miscarriage.

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Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study

Cited by 7 publications

References 61 publications

Proteomics analysis revealed the mechanism of differential egg productive in geese

Proteomics analysis revealed the mechanism of differential egg productive in geese

A nested case-control study of factors influencing adverse pregnancy outcomes in women with previous pregnancy loss

Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants

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