Prenatal detection of rare chromosomal autosomal abnormalities in Europe

Neus Baena, C. De Vigan, E. Cariati, M. Clementi, C. Stoll, M. R. Caballin, M. Guitart, M. Haeusler, I. Barisic, R. Matejic, E. Garne, V. Vodovar, Y. Alembik, B. Dott, U. G. Froster, A. Queisser-Luft, A. Wiesel, R. Tenconi, F. Benedicenti, S. BiancaG. Ettore, F. Bianchi, V. Lithuania Kukinskas, A. Utkus, H. E.K. De Walle, G. R.J. Zandwijken, S. Garcia-Minaur, G. Aranguren, N. I. Baena, P. A. Boyd, D. G. Wellesley

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15 Citations (Scopus)


The aim of the present study was to evaluate the prenatal detection of rare chromosomal autosomal abnormalities by ultrasound (US) examination. Data were obtained from 19 congenital malformation registries from 11 European countries, between 01/07/96 and 31/12/98. A total of 664,340 births were covered and 7,758 cases with congenital malformations were recorded. Rare autosomal abnormalities were diagnosed in 114 cases (6.6%) from a total of 1, 738 chromosome abnormalities. There were a wide variety of autosomal abnormalities: the most common were deletions (33 cases), duplications (32 cases), trisomies of chromosomes 8, 9, 10, 14, 15, and 16 (23 cases), and unbalanced rearrangements (19 cases). Out of these cases, 45.6% were detected prenatally by US examination due to the presence of congenital anomaly. As for the types of chromosomal anomaly, unbalanced rearrangements and deletions were the most frequently detected by US. A high percentage of cases with balanced rearrangements were associated with severe congenital anomalies. The most frequent congenital anomalies detected by US were cystic hygroma (20.6%), central nervous system defects (17.6%), cardiac defects (13.2%), and diaphragm defects (10.3%). This large series offers useful information about prenatal diagnosis by US of congenital defects associated with rare autosomal abnormalities and it provides a valuable knowledge about outcome. Fetal anomalies detected by US that were associated with rare autosomal abnormalities were significantly more frequent than those associated with common chromosomal abnormalities (45.6 vs. 34.7%). This study indicates the need to increase the detection of congenital anomalies by US. © 2003 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)319-327
JournalAmerican Journal of Medical Genetics
Volume118 A
Issue number4
Publication statusPublished - 1 May 2003


  • Congenital anomaly
  • Congenital malformation
  • Prenatal diagnosis
  • Rare chromosomal autosomal abnormalities
  • Ultrasound


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