{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T14:52:46Z","timestamp":1781880766527,"version":"3.54.5"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T00:00:00Z","timestamp":1471392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Congenital limb deficiency defects (LDDs) are etiologically heterogeneous. Acquired causes include amniotic bands, teratogens exposure, and chorionic villus sampling before 10 weeks\u2019 gestation and intrinsic causes include single\u2010gene disorders and chromosome abnormalities. However, a substantial number of cases, especially terminal transverse deficiency defects, occur without an obvious cause and are ascribed to vascular disruption events. Some studies have found an association between maternal thrombophilia and congenital LDDs. We investigated this association through a review of all prenatally identified LDDs at a major tertiary care center in Toronto, Canada over a 12\u2010year period. Our results showed a higher prevalence of thrombophilias among women with a pregnancy affected with an LDD when compared to the general population [\u03c7<jats:sup>2<\/jats:sup>(3)\u2009=\u200954.63, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01]. Our research was strengthened by the inclusion of affected pregnancies regardless of outcome, and strict criteria to avoid including LDDs with a non\u2010vascular etiology. Most LDDs were identified during the routine 18\u201320 week anatomy ultrasound, but some were discovered as early as 13 weeks\u2019 gestation. We found an excess of left\u2010sided defects among terminal transverse but not longitudinal deficiencies; additionally, all diagnoses of maternal thrombophilia occurred in the terminal transverse group. Our results support thrombophilia screening in all women with a prenatally diagnosed fetal LDD as well as careful evaluation of the fetal extremities during prenatal ultrasounds in women with a known thrombophilia. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37890","type":"journal-article","created":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T10:54:26Z","timestamp":1471431266000},"page":"3083-3089","source":"Crossref","is-referenced-by-count":14,"title":["Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia"],"prefix":"10.1002","volume":"170","author":[{"given":"Leslie","family":"Ordal","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Keunen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Shehata","sequence":"additional","affiliation":[{"name":"Division of Hematology Department of Medicine Mount Sinai Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory H.","family":"Borschel","sequence":"additional","affiliation":[{"name":"Division of Plastic and Reconstructive Surgery Department of Surgery The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard M.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Division of Plastic and Reconstructive Surgery Department of Surgery The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ants","family":"Toi","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Mount Sinai Hospital Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Shuman","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics University of Toronto Toronto Ontario Canada"},{"name":"Division of Clinical and Metabolic Genetics Department of Pediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics University of Toronto Toronto Ontario Canada"},{"name":"Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto Toronto Ontario Canada"},{"name":"Department of Obstetrics and Gynecology The Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital University of Toronto Toronto Ontario Canada"},{"name":"Division of Clinical and Metabolic Genetics Department of Pediatrics The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,8,17]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"Congenital deformities of upper extremities. Translated by Elisabeth Aagesen","author":"Birch\u2010Jensen A","year":"1949"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1586\/eog.10.17"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35565"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31505"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1701-2163(16)34127-5"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420480405"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.reprotox.2006.03.015"},{"key":"e_1_2_7_9_1","volume-title":"Thrombophilia","author":"Giannubilo SR","year":"2011"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33999"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1068-607X(02)00123-3"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20359"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780195136029.001.0001"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80343-0"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570305.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.4344"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2011.03.015"},{"key":"e_1_2_7_18_1","first-page":"545","article-title":"Fertility, infertility and thrombophilia","volume":"7","author":"Kuperman A","year":"2011","journal-title":"Womens Health"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0029-7844(01)01621-0"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.4.e64"},{"key":"e_1_2_7_21_1","first-page":"50","article-title":"Is thrombophilia testing useful","volume":"1","author":"Middeldorp S","year":"2011","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.disamonth.2010.06.008"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)60793-5"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.263055113"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33636"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.20825"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.06.005"},{"key":"e_1_2_7_28_1","first-page":"70","article-title":"Terminal transverse congenital forearm deficiency","volume":"1","author":"Shurr DG","year":"1981","journal-title":"Iowa Orthop J"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80783-1"},{"key":"e_1_2_7_30_1","volume-title":"Human malformations and related anomalies","author":"Stevenson RE","year":"2006"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80342-9"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01746.x"}],"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.37890","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37890","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37890","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:41:57Z","timestamp":1696642917000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37890"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,17]]},"references-count":31,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37890"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37890","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,17]]}}}