AbstractAfter the mid‐second trimester, women with intrauterine fetal death (IUFD) are managed with cervical dilation and vaginal gemeprost or intravenous oxytocin. In women with IUFD complicated by placenta previa, unneglectable concerns about massive bleeding during the procedure pose a burden on healthcare providers. Although a standardized management remains unestablished, the treatment options for IUFD complicated by placenta previa include cesarean section, gemeprost, and intravenous oxytocin, and such procedures follow uterine artery embolization. However, these strategies have non‐negligible risks, such as bleeding during the procedure and adverse effects on future pregnancies. Herein, we present a case of a woman with IUFD at 24 weeks of gestation and complete placenta previa, who delivered a baby with a low blood loss volume after 40 days of expectant management, potentially attributed to placental migration and reduced placental blood flow volume.

2025-03-01·Molecular Genetics & Genomic Medicine

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons

Article

作者: Ogata‐Kawata, Hiroko ; Nakabayashi, Kazuhiko ; Ito, Yushi ; Hata, Kenichiro ; Ozawa, Katsusuke ; Taniguchi, Kosuke ; Wada, Seiji ; Fukui, Kana ; Migita, Ohsuke ; Okamura, Kohji ; Hasegawa, Fuyuki ; Kawai, Tomoko ; Aoto, Saki ; Sago, Haruhiko ; Hori, Asuka ; Okazaki, Yuka

ABSTRACTBackgroundWhole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES‐based strategy for detecting congenital anomalies.MethodsInitially, 128 probands with congenital anomalies were assessed using trio‐WES and copy number variation analysis—variant interpretation was for exons and splice sites. Thereafter, we reanalyzed the sequence data for undiagnosed cases using the following methods. First, we performed trio‐WES analysis, adding genetic intolerance scores annotation. Second, we analyzed all exons, splicing sites, and intron variants for cases with phenotypes suggestive of specific causative genes using SpliceAI. Lastly, using SpliceAI, we analyzed all exons, splicing sites, and intron variants in genetically constrained genes filtered with genetic intolerance scores.ResultsInitial analysis diagnosed 51 of 128 cases (39.8%). In the reanalysis, first, we identified novel likely pathogenic variants in MED12 and CCDC22 associated with X‐linked diseases. Second, a novel TMEM67 intron variant associated with Meckel syndrome was detected. Finally, a de novo hemizygous pathogenic intronic variant in CASK was identified in a case of intrauterine fetal death.ConclusionsWES analysis, including intronic regions and utilizing genetic intolerance scores, has the potential to efficiently improve diagnostic yield.

2025-02-01·BJOG: An International Journal of Obstetrics & Gynaecology

Adherence to Healthy Prepregnancy Lifestyle and Risk of Adverse Pregnancy Outcomes: A Prospective Cohort Study

Article

作者: Ohya, Yukihiro ; Okubo, Hitomi ; Mito, Asako ; Nakayama, Shoji F. ; Arata, Naoko

ABSTRACTObjectiveTo quantify the association between a combination of modifiable prepregnancy lifestyle factors and the risk of adverse pregnancy outcomes (APOs).DesignProspective cohort study.SettingThe Japan Environment and Children's Study.PopulationA total of 79 703 pregnant Japanese women without chronic disease.MethodsMaternal lifestyle before pregnancy was assessed using a self‐administered questionnaire. A healthy lifestyle score (HLS, 0–5 points) was calculated based on adherence to five prepregnancy healthy lifestyle factors: healthy weight, high‐quality diet, regular physical activity, not smoking, and not drinking alcohol. Relative risks (RRs) and 95% credible intervals (CrIs) were estimated using a Bayesian log‐binomial regression model.Main Outcome MeasuresComposite APOs, defined as the development of any APO, including gestational diabetes, hypertensive disorders of pregnancy, preterm birth, low birth weight, and small‐for‐gestational‐age, transcribed from medical records.ResultsA total of 13 894 women (17.4%) experienced one or more APOs. HLS was inversely associated with the risk of APOs in a dose–response manner. Women with an HLS of 5 points had a 33% (RR 0.67; 95% CrI, 0.61–0.74) lower risk of APOs than those with the lowest HLS (0–1 points). The population attributable fraction of five healthy lifestyle factors was 10.3%. A 1‐point increase of HLS could have reduced APO cases by 6.6%.ConclusionsA higher HLS was associated with a lower risk of APOs, suggesting that adopting a healthy lifestyle before pregnancy may reduce the risk of APOs, which can increase the risk of future chronic diseases in both mother and child.

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