A nationwide evaluation of multiple congenital abnormalities in Hungary

E. Czeizel, M. Kovacs, P. Kiss, K. Méhes, L. Szabo, E. Oláh, G. Kosztolányi, G. Szemere, H. Kovacs, G. Fekete

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA 320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were exluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10% of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29% to 47%. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5% to 2%. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.

Original languageEnglish
Pages (from-to)183-202
Number of pages20
JournalGenetic Epidemiology
Volume5
Issue number3
Publication statusPublished - 1988

Fingerprint

Multiple Abnormalities
Hungary
Parturition

ASJC Scopus subject areas

  • Epidemiology
  • Genetics(clinical)

Cite this

A nationwide evaluation of multiple congenital abnormalities in Hungary. / Czeizel, E.; Kovacs, M.; Kiss, P.; Méhes, K.; Szabo, L.; Oláh, E.; Kosztolányi, G.; Szemere, G.; Kovacs, H.; Fekete, G.

In: Genetic Epidemiology, Vol. 5, No. 3, 1988, p. 183-202.

Research output: Contribution to journalArticle

Czeizel, E. ; Kovacs, M. ; Kiss, P. ; Méhes, K. ; Szabo, L. ; Oláh, E. ; Kosztolányi, G. ; Szemere, G. ; Kovacs, H. ; Fekete, G. / A nationwide evaluation of multiple congenital abnormalities in Hungary. In: Genetic Epidemiology. 1988 ; Vol. 5, No. 3. pp. 183-202.
@article{f489554e306946cf9bc309ef4c7998f0,
title = "A nationwide evaluation of multiple congenital abnormalities in Hungary",
abstract = "A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA 320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were exluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10{\%} of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29{\%} to 47{\%}. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5{\%} to 2{\%}. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.",
author = "E. Czeizel and M. Kovacs and P. Kiss and K. M{\'e}hes and L. Szabo and E. Ol{\'a}h and G. Kosztol{\'a}nyi and G. Szemere and H. Kovacs and G. Fekete",
year = "1988",
language = "English",
volume = "5",
pages = "183--202",
journal = "Genetic Epidemiology",
issn = "0741-0395",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - A nationwide evaluation of multiple congenital abnormalities in Hungary

AU - Czeizel, E.

AU - Kovacs, M.

AU - Kiss, P.

AU - Méhes, K.

AU - Szabo, L.

AU - Oláh, E.

AU - Kosztolányi, G.

AU - Szemere, G.

AU - Kovacs, H.

AU - Fekete, G.

PY - 1988

Y1 - 1988

N2 - A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA 320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were exluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10% of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29% to 47%. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5% to 2%. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.

AB - A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA 320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were exluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10% of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29% to 47%. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5% to 2%. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.

UR - http://www.scopus.com/inward/record.url?scp=0023762913&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023762913&partnerID=8YFLogxK

M3 - Article

C2 - 3262553

AN - SCOPUS:0023762913

VL - 5

SP - 183

EP - 202

JO - Genetic Epidemiology

JF - Genetic Epidemiology

SN - 0741-0395

IS - 3

ER -