{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T22:09:39Z","timestamp":1773180579561,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T00:00:00Z","timestamp":1478476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Netherlands Heart Foundation","award":["2015T041"],"award-info":[{"award-number":["2015T041"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Vascular Ehlers\u2013Danlos Syndrome (vEDS) is caused by heterozygous mutations in <jats:italic>COL3A1<\/jats:italic> and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy\u2010related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37\u2010year\u2010old woman, DNA\u2010analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in <jats:italic>COL3A1<\/jats:italic> (c.980G&gt;A; p. Gly327Asp). She had had three uneventful vaginal deliveries. At the time of diagnosis, her 33\u2010year\u2010old niece was 25 weeks pregnant. She had had one uneventful vaginal delivery. Targeted DNA\u2010analysis revealed that she was carrier of the <jats:italic>COL3A1<\/jats:italic> mutation. Ultrasound detected an aneurysm in the abdominal aorta with likely a dissection. An uneventful elective cesarean section was performed at a gestational age of 37 weeks. The 40\u2010year\u2010old sister of our proband had had one uneventful vaginal delivery and an active pregnancy wish. Cascade DNA\u2010screening showed her to carry the <jats:italic>COL3A1<\/jats:italic> mutation. Computed Tomography Angiography (CTA) of her aorta revealed a type B dissection with the most proximal entry tear just below the superior mesenteric artery. Pregnancy was therefore discouraged. This familial case illustrates the complexity and challenges of reproductive decision\u2010making in a potentially lethal condition as vEDS, and highlights the importance of a multidisciplinary approach. Moreover, it suggests that previous pregnancy\u2010related risks of vEDS may be overestimated. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38033","type":"journal-article","created":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T10:56:41Z","timestamp":1478516201000},"page":"519-523","source":"Crossref","is-referenced-by-count":8,"title":["Six uneventful pregnancy outcomes in an extended vascular Ehlers\u2013Danlos syndrome family"],"prefix":"10.1002","volume":"173","author":[{"given":"Annette F.","family":"Baas","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilko","family":"Spiering","sequence":"additional","affiliation":[{"name":"Department of Vascular Medicine University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans L.","family":"Moll","sequence":"additional","affiliation":[{"name":"Department Vascular Surgery University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lieve","family":"Page\u2010Christiaens","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid C. M.","family":"Beenakkers","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis","family":"Dooijes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evert\u2010Jan P. A.","family":"Vonken","sequence":"additional","affiliation":[{"name":"Department of Radiology University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasper J.","family":"van der Smagt","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nine V.","family":"Knoers","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven V.","family":"Koenen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joost A.","family":"van Herwaarden","sequence":"additional","affiliation":[{"name":"Department Vascular Surgery University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gertjan Tj.","family":"Sieswerda","sequence":"additional","affiliation":[{"name":"Department of Cardiology University Medical Center Utrecht (UMCU) Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01858.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000109218"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-011-1899-5"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/01443619867416"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.53"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60960-9"},{"key":"e_1_2_5_9_1","first-page":"1993","volume-title":"Vascular Ehlers\u2010Danlos Syndrome. 1GeneReviews\u00ae [Internet]","author":"Pepin MG","year":"1999"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003093421001"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehr218"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)91577-5"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0109-5"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38033","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38033","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38033","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T18:48:19Z","timestamp":1694717299000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38033"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,7]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1002\/ajmg.a.38033"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38033","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,7]]}}}