title: A low rate of trisomy 21 in twin-pregnancies: a cytogenetics retrospective study of 278 cases.
abstract: From January 1st 1990 until December 31st 2001, we collected 19686 prenatal diagnosis (on amniocentesis and chorius villus sampling). Five hundred twelve samples (2.6%) concerned 278 twin pregnancies. The most frequent indications were maternal age > or = 35 years (108/278 = 38.8%), medically assisted procreation (34/278 = 12.3%), positive ultrasound (20/278 = 7.2%). Chromosome abnormalities were found in eight twin-pregnancies (2.9%): five with only one fetus affected [47,XX,+ 18; 45,XX,t( 13;14); 47,XYY; 47,XXX; 45,XX, t(13;14)], two with both fetuses showing the same chromosomal abnormality [inv(11)(q21q25); 47,XX,+ 18] and one with only one fetus tested [47,XX,+ 18]. In total, we found eight autosomal abnormalities, four inherited balanced rearrangements (two robertsonian translocations and two paracentric inversions of chromosome 11) and four trisomies 18. We also observed two sex chromosome abnormalities interesting only one of the two fetuses. Surprisingly, we did no detect any Down Syndrome among this population. The frequency of Down Syndrome was significantly (p < 0.05) lower in our population of twin pregnancies (0.0%) as compared to the observed incidence in singleton pregnancies during the same period (163/19162 = 0.9%).
authors.affiliation: Department of Human Genetics, Center for Cellular and Molecular Therapy, C.H.U. University of Liège, 4000 Liège, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Jamar
authors.forename: C
authors.initials: C
authors.lastname: Lemarchal
authors.forename: V
authors.initials: V
authors.lastname: Lemaire
authors.forename: L
authors.initials: L
authors.lastname: Koulischer
authors.forename: V
authors.initials: V
authors.lastname: Bours
mesh_terms: D000328:Adult; D001530:Belgium / Q000453:epidemiology; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D020732:Cytogenetic Analysis; D004200:Diseases in Twins / Q000453:epidemiology*; D004314:Down Syndrome / Q000453:epidemiology*; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D008423:Maternal Age; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies