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Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe.

https://arctichealth.org/en/permalink/ahliterature63649
Source
Community Genet. 2001 Jun;4(4):225-232
Publication Type
Article
Date
Jun-2001
Author
C. Stoll
R. Tenconi
M. Clementi
Author Affiliation
Service de Génétique Médicale, University of Strasbourg, France.
Source
Community Genet. 2001 Jun;4(4):225-232
Date
Jun-2001
Language
English
Publication Type
Article
Abstract
Objectives: Birth defects are a major health burden. Primary prevention is at present emerging, i.e. folate supplementation. When it is not possible, as is still the case for most birth defects, research is needed to determine how an optimal provision of prenatal diagnosis and use of services can be achieved. Ultrasound scans in the midtrimester of pregnancy are now a routine part of antenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of congenital anomalies by fetal ultrasonographic examination across Europe. Methods: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to 3 fetal scans offered, including 2 for biometric purposes and 1 for search of congenital anomalies, the anomaly scan. Results: There were 8,126 cases with congenital anomalies with an overall prenatal detection rate of 44.3%. Termination of pregnancy was performed in 1,657 cases (21.8%). There was significant variation in the prenatal detection rate between regions with the lowest detection rate in registries of countries without routine fetal screening (Denmark and The Netherlands) and the highest detection rate in registries of countries with at least 1 anomaly scan (France, Germany, Italy, Spain, UK). However, there were large variations among the registries with a high detection rate. There were significant differences in the prenatal detection rate and proportion of induced abortions between isolated anomalies and associated anomalies (chromosomal aberrations, recognized syndromes, and multiple without chromosomal aberrations or recognized syndromes). Conclusions: Prenatal detection rate of congenital anomalies by fetal scan varies significantly between registries of European countries even with the same screening policy. Prenatal detection of congenital anomalies is significantly higher when associated malformations are present. The rate of induced abortions varies between registries of countries even with the same detection rate of congenital anomalies. The variation described may be due to cultural and policy differences. Copyright 2002 S. Karger AG, Basel
PubMed ID
12107351 View in PubMed
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Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.

https://arctichealth.org/en/permalink/ahliterature53945
Source
Prenat Diagn. 2001 Apr;21(4):243-52
Publication Type
Article
Date
Apr-2001
Author
C. Stoll
E. Garne
M. Clementi
Author Affiliation
Centre Hospitalo-Universitaire, Strasbourg, France. Claude.Stoll@chru-strasbourg.fr
Source
Prenat Diagn. 2001 Apr;21(4):243-52
Date
Apr-2001
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics - ultrasonography
Adult
Chromosome Aberrations
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 18
Down Syndrome - genetics - ultrasonography
Europe
Female
Gestational Age
Heart Defects, Congenital - genetics - ultrasonography
Humans
Maternal Age
Pregnancy
Pregnancy, High-Risk
Registries
Research Support, Non-U.S. Gov't
Syndrome
Trisomy
Turner Syndrome - genetics - ultrasonography
Ultrasonography, Prenatal
Abstract
Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996-1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into 'isolated' when only a cardiac malformation was present and 'associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects.
PubMed ID
11288111 View in PubMed
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Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group.

https://arctichealth.org/en/permalink/ahliterature63877
Source
Prenat Diagn. 2000 Nov;20(11):870-5
Publication Type
Article
Date
Nov-2000
Author
M. Clementi
R. Tenconi
F. Bianchi
C. Stoll
Author Affiliation
Genetica Clinica ed Epidemiologica, Università di Padova, Italy. clementi@child.pedi.unipd.it
Source
Prenat Diagn. 2000 Nov;20(11):870-5
Date
Nov-2000
Language
English
Publication Type
Article
Keywords
Cleft Lip - complications - epidemiology - ultrasonography
Cleft Palate - complications - epidemiology - ultrasonography
Europe - epidemiology
Gestational Age
Registries
Research Support, Non-U.S. Gov't
Ultrasonography, Prenatal
Abstract
Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of cleft lip with or without cleft palate (CL(P)) and cleft palate (CP). All CL(P) and CPs suspected prenatally and identified at birth in the period 1996-98 were registered from 20 Congenital Malformation Registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK, Ukraine. These registries followed the same methodology. A total of 709,027 births were covered; 7758 cases with congenital malformations were registered. Included in the study were 751 cases reported with facial clefts: 553 CL(P) and 198 CP. The prenatal diagnosis by transabdominal ultrasound of CL(P) was made in 65/366 cases with an isolated malformation, in 32/62 cases with chromosomal anomaly, in 30/89 cases with multiple malformations and in 21/36 syndromic cases. The prenatal diagnosis of CP was made in 13/198 cases. One hundred pregnancies were terminated (13%); in 97 of these the cleft was associated with other malformations.
PubMed ID
11113886 View in PubMed
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Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries.

https://arctichealth.org/en/permalink/ahliterature53920
Source
Ultrasound Obstet Gynecol. 2001 May;17(5):386-91
Publication Type
Article
Date
May-2001
Author
E. Garne
C. Stoll
M. Clementi
Author Affiliation
Eurocat Registry of Funen County, University of Southern Denmark, Denmark. Egarne@health.sdu.dk
Source
Ultrasound Obstet Gynecol. 2001 May;17(5):386-91
Date
May-2001
Language
English
Publication Type
Article
Keywords
Abortion, Induced - statistics & numerical data
Europe - epidemiology
Female
Fetal Death - epidemiology
Fetal Diseases - epidemiology - mortality - ultrasonography
Fetal Heart - ultrasonography
Gestational Age
Heart Defects, Congenital - epidemiology - mortality - ultrasonography
Humans
Pregnancy
Pregnancy Outcome - epidemiology
Registries - statistics & numerical data
Research Support, Non-U.S. Gov't
Ultrasonography, Prenatal
Abstract
OBJECTIVES: To evaluate prenatal diagnosis of congenital heart diseases by ultrasound investigation in well-defined European populations. DESIGN: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient routinely performed. RESULTS: There were 2454 cases with congenital heart disease with an overall prenatal detection rate of 25%. Termination of pregnancy was performed in 293 cases (12%). There was considerable variation in prenatal detection rate between regions, with the lowest detection rates being in countries without ultrasound screening (11%) and in Eastern European countries (Croatia, Lithuania and Ukraine; 8%). In Western European countries with ultrasound screening, detection rate ranged from 19-48%. There was a significant difference in prenatal detection rate and proportion of induced abortions between isolated congenital heart disease and congenital heart disease associated with chromosome anomalies, multiple malformations and syndromes (P
PubMed ID
11380961 View in PubMed
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Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group.

https://arctichealth.org/en/permalink/ahliterature32510
Source
Prenat Diagn. 2000 Oct;20(10):811-8
Publication Type
Article
Date
Oct-2000
Author
C. Stoll
A. Wiesel
A. Queisser-Luft
U. Froster
S. Bianca
M. Clementi
Author Affiliation
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France. Claude.Stoll@chru-strasbourg.fr
Source
Prenat Diagn. 2000 Oct;20(10):811-8
Date
Oct-2000
Language
English
Publication Type
Article
Keywords
Adult
Europe - epidemiology
Extremities - embryology - ultrasonography
Female
Fetal Diseases - epidemiology - ultrasonography
Humans
Incidence
Limb Deformities, Congenital - epidemiology - ultrasonography
Mass Screening - standards
Predictive value of tests
Pregnancy
Pregnancy outcome
Registries
Research Support, Non-U.S. Gov't
Sensitivity and specificity
Ultrasonography, Prenatal
Abstract
Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of limb reduction deficiencies (LRD) by routine ultrasonographic examination of the fetus. All LRDs suspected prenatally and all LRDs (including chromosome anomalies) confirmed at birth were identified from 20 Congenital Malformation Registers from the following 12 European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries are following the same methodology. During the study period (1996-98) there were 709,030 births, and 7,758 cases with congenital malformations including LRDs. If more than one LRD was present the case was coded as complex LRD; 250 cases of LRDs with 63 (25.2%) termination of pregnancies were identified including 138 cases with isolated LRD, 112 with associated malformations, 16 with chromosomal anomalies and 38 non chromosomal recognized syndromes. The prenatal detection rate of isolated LRD was 24.6% (34 out of 138 cases) compared with 49.1% for associated malformations (55 out of 112; p
PubMed ID
11038459 View in PubMed
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