{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T10:33:11Z","timestamp":1787913191153,"version":"build-2784847793"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2002,4,12]],"date-time":"2002-04-12T00:00:00Z","timestamp":1018569600000},"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":[[2002,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: \u03b2\u2010thalassaemia, sickle\u2010cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X\u2010linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low\u2010cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3\u2032\u2010HVR\/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non\u2010informative sites about MCC. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.325","type":"journal-article","created":{"date-parts":[[2004,6,30]],"date-time":"2004-06-30T16:02:40Z","timestamp":1088611360000},"page":"425-429","source":"Crossref","is-referenced-by-count":30,"title":["A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis"],"prefix":"10.1002","volume":"22","author":[{"given":"T.","family":"Antoniadi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Yapijakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Kaminopetros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Makatsoris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Velissariou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Vassilopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. B.","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,4,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200101)21:1<10::AID-PD968>3.0.CO;2-H"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1998.2.347"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1159\/000472192","article-title":"Population genetic comparisons among eight populations using allele frequency and sequence data from three microsatellite loci","volume":"4","author":"Brinkmann B","year":"1996","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90154-5"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-07-029090"},{"key":"e_1_2_1_7_1","first-page":"1","article-title":"Multicentre randomised clinical trial of chorion villus sampling and amniocentecis","author":"Canadian Collaborative CVS\u2010Amniocentesis Clinical Trial Group","year":"1989","journal-title":"Lancet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)92468-9"},{"key":"e_1_2_1_9_1","first-page":"1325","article-title":"Characteristics of polymorphism at a VNTR locus 3\u2032 to the apolipoprotein B gene in five human populations","volume":"51","author":"Deka R","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00208279"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90371-X"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199902)19:2<113::AID-PD475>3.0.CO;2-J"},{"key":"e_1_2_1_13_1","unstructured":"HatzakiA.1997.Study of polymorphic loci of human genome and evaluation for forensic studies. Doctoral Thesis University of Athens Greece."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0029-7844(98)00262-2"},{"key":"e_1_2_1_15_1","volume-title":"Prenatal Diagnosis of Chromosome Abnormalities. Genetic Disorders and the Fetus","author":"Hsu LYF","year":"1986"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01247353"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91955-0"},{"key":"e_1_2_1_18_1","first-page":"171","volume-title":"Fetal Karyotyping in Twins. The 11\u201314\u2009Weeks Scan. The Diagnosis of Fetal Abnormalities","author":"Nicolaides KH","year":"1999"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210594"},{"key":"e_1_2_1_20_1","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1182\/blood.V76.3.555.555","article-title":"Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable tandem repeat region of the von Willebrand gene","volume":"76","author":"Peake IR","year":"1990","journal-title":"Blood"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120507"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000022823"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140206"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)92384-1"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-1271(1998090)13:5<303::AID-BIO492>3.0.CO;2-A"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090503"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.1.61"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0029-7844(01)01245-5"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V77.7.1607.1607"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199903)19:3<234::AID-PD516>3.0.CO;2-7"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200012)20:12<956::AID-PD956>3.0.CO;2-Y"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530402"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199601)16:1<49::AID-PD808>3.0.CO;2-U"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.13.3764"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199603)16:3<262::AID-PD841>3.0.CO;2-F"},{"key":"e_1_2_1_36_1","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1159\/000472303","article-title":"Linkage disequilibrium between the expanded (CAG)n repeat and an allele of the adjacent (CCG)n repeat in Huntington's disease patients of Greek origin","volume":"3","author":"Yapijakis C","year":"1995","journal-title":"Eur J Hum Genet"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.325","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.325","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T09:12:20Z","timestamp":1696669940000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,4,12]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,5]]}},"alternative-id":["10.1002\/pd.325"],"URL":"https:\/\/doi.org\/10.1002\/pd.325","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,4,12]]}}}