{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:43:14Z","timestamp":1791423794151,"version":"4.3.3"},"reference-count":62,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T00:00:00Z","timestamp":1713484800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background: Despite pregnancy\u2019s hypercoagulable state, the correlation between inherited thrombophilia and thrombotic adverse pregnancy outcomes remains uncertain. The objective of this study was to determine the prevalence of inherited thrombophilic polymorphisms among asymptomatic pregnant individuals and to examine their potential correlation with adverse perinatal outcomes. Methods: in this single-center prospective study, 105 healthy pregnant women were included. Genotyping was conducted for factor V Leiden (FVL), prothrombin gene mutation, methylenetetrahydrofolate reductase enzyme (MTHFR) C677T, MTHFR A1298C, and plasminogen activator inhibitor-1 (PAI-1), alongside the assessment of protein C (PC), protein S (PS), and antithrombin (AT) levels. The study analyzed the association between inherited thrombophilic polymorphisms and pregnancy complications linked to placental insufficiency, such as gestational hypertension (GH), preeclampsia (PE), intrauterine death (IUD), fetal growth restriction (FGR), and placental abruption. Results: The prevalence of identifiable thrombophilic polymorphism mutations was 61.9% (95% confidence interval\u2014CI 52.4\u201370.8%), with the most common single mutation being PAI-1 4G\/5G (12\/105, 11.4%, 95% CI 6.4\u201318.5). The most frequent combined mutation was heterozygosity for MTHFR C677T and PAI-1 (12\/105, 11.4%, 95% CI 6.4\u201318.5). Notably, no FVL homozygous carriers or single homozygous and heterozygous carriers for prothrombin polymorphisms were found. Additionally, no deficiencies in PC and AT were detected among participants. Except for homozygosity for PAI-1, none of the studied polymorphisms demonstrated a significant association with pregnancy complications linked to placental insufficiency. Conclusions: The asymptomatic carriers of inherited thrombophilic polymorphisms do not have an increased risk of adverse perinatal outcomes.<\/jats:p>","DOI":"10.3390\/jpm14040433","type":"journal-article","created":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T10:53:17Z","timestamp":1713523997000},"page":"433","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Impact of Thrombophilic Polymorphisms in Antenatal Women on Perinatal Health: A Single-Center Prospective Study"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8221-0092","authenticated-orcid":false,"given":"Vesna","family":"Sokol Karadjole","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, University Hospital Center Zagreb, 10000 Zagreb, Croatia"},{"name":"School of Medicine Zagreb, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-761X","authenticated-orcid":false,"given":"Antonio","family":"D\u2019Amato","sequence":"additional","affiliation":[{"name":"Unit of Obstetrics and Gynecology, Department of Interdisciplinary Medicine (DIM), University of Bari \u201cAldo Moro\u201d, Policlinico of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9008-7645","authenticated-orcid":false,"given":"Milan","family":"Milo\u0161evi\u0107","sequence":"additional","affiliation":[{"name":"School of Medicine Zagreb, University of Zagreb, 10000 Zagreb, Croatia"},{"name":"School of Medicine, Andrija \u0160tampar School of Public Health, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mislav","family":"Herman","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University Hospital Center Zagreb, 10000 Zagreb, Croatia"},{"name":"School of Medicine Zagreb, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1365-8704","authenticated-orcid":false,"given":"Mislav","family":"Miku\u0161","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University Hospital Center Zagreb, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1543-2802","authenticated-orcid":false,"given":"Antonio Simone","family":"Lagan\u00e0","sequence":"additional","affiliation":[{"name":"Unit of Obstetrics and Gynecology, \u201cPaolo Giaccone\u201d Hospital, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito","family":"Chiantera","sequence":"additional","affiliation":[{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo, 90127 Palermo, Italy"},{"name":"Unit of Gynecologic Oncology, National Cancer Institute, IRCCS, Fondazione \u201cG. Pascale\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7414-4224","authenticated-orcid":false,"given":"Andrea","family":"Etrusco","sequence":"additional","affiliation":[{"name":"Unit of Obstetrics and Gynecology, \u201cPaolo Giaccone\u201d Hospital, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,19]]},"reference":[{"key":"ref_1","first-page":"44","article-title":"Hereditary Thrombophilia","volume":"90","author":"Dautaj","year":"2019","journal-title":"Acta Biomed."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Dicks, A.B., Moussallem, E., Stanbro, M., Walls, J., Gandhi, S., and Gray, B.H. (2024). 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