{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T11:02:36Z","timestamp":1753182156104},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,28]],"date-time":"2014-01-28T00:00:00Z","timestamp":1390867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aimed to offer genetic diagnosis to affected type 3 severe von Willebrand disease families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Thirteen families were referred for prenatal diagnosis during the first and second trimesters of pregnancy. Prenatal diagnosis was offered by chorionic villus sampling between 11 and 12\u2009weeks and by cordocentesis between 18 and 19.5\u2009weeks of gestation. Phenotypic analysis included FVIII:C and von Willebrand factor antigen assays. A combination of molecular biological techniques which included PCR\u2010restriction fragment length polymorphism technique using intron 40 variable number tandem repeat (VNTR) markers, conformation sensitive gel electrophoresis, direct DNA sequencing, and multiple ligation probe amplification (MLPA) were used to offer genotyic diagnosis in the remaining families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Diagnosis was offered by intron 40 VNTR analysis in eight families. In one family, the diagnosis was given by direct mutation detection technique, whereas in another diagnosis was given by MLPA technique as the index case showed the presence of large deletion within von Willebrand factor. In three families, diagnosis was offered by cordocentesis on the basis of phenotypic assays, further confirmed by genotyping.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Both first and second\u2010trimester prenatal diagnoses could be successfully offered using a combination of phenotypic and genotypic techniques to all severe von Willebrand disease families. \u00a9 2014 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4315","type":"journal-article","created":{"date-parts":[[2014,1,6]],"date-time":"2014-01-06T05:52:44Z","timestamp":1388987564000},"page":"377-381","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal diagnosis in severe von Willebrand disease families from India using combination of phenotypic and genotypic assays"],"prefix":"10.1002","volume":"34","author":[{"given":"Priyanka","family":"Kasatkar","sequence":"first","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) KEM Hospital  Parel Mumbai 400 012 India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shrimati","family":"Shetty","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) KEM Hospital  Parel Mumbai 400 012 India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanjaksha","family":"Ghosh","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) KEM Hospital  Parel Mumbai 400 012 India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2009.02005.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.02146.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2009.03661.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V69.2.454.454"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0268-960X(89)90032-5"},{"key":"e_1_2_6_7_1","first-page":"653","article-title":"Prevalence and spectrum of von Willebrand disease from western India","volume":"121","author":"Trasi S","year":"2005","journal-title":"Indian J Med Res"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000089468"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2006.01431.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00217122"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-004-0924-1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V76.3.555.555"},{"key":"e_1_2_6_13_1","first-page":"27","article-title":"Amniocentesis and fetoscopy","volume":"98","author":"Hopkins EL","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-64-762-505"},{"key":"e_1_2_6_15_1","first-page":"630","article-title":"Cardiocentesis: an alternative method of fetal blood sampling for the prenatal diagnosis of hemoglobinopathies","volume":"79","author":"Antsakils AJ","year":"1992","journal-title":"Obstet Gynecol"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0028-2243(88)90080-9"},{"key":"e_1_2_6_17_1","first-page":"276","article-title":"Percutaneous umbilical blood sampling. 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