C. Stoll et al., Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe, PRENAT DIAG, 21(4), 2001, pp. 243-252
Citations number
44
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Ultrasound scans in the mid trimester of pregnancy are now a routine parr o
f antenatal care in most European countries. With the assistance of Registr
ies of Congenital Anomalies a study was undertaken in Europe. The objective
of the study was to evaluate prenatal detection of congenital heart defect
s (CHD) by routine ultrasonographic examination of the Fetus. All congenita
l malformations suspected prenatally and all congenital malformations, incl
uding chromosome anomalies, confirmed at birth were identified from the Con
genital Malformation Registers, including 20 registers from the Following E
uropean countries: Austria, Croatia, Denmark. France, Germany. Italy, Lithu
ania, Spain, Switzerland. The Netherlands, UK and Ukrainia. These registrie
s follow the same methodology. The study period was 1996-1998, 709 030 birt
hs were covered, and 8126 cases with congenital malformations were register
ed. If more than one cardiac malformation was present the case was coded as
complex cardiac malformation. CHD were subdivided into 'isolated' when onl
y a cardiac malformation was present and 'associated' when at least one oth
er major extra cardiac malformation was present. The associated CHD were su
bdivided into chromosomal, syndromic non-chromosomal and multiple. The stud
y comprised 761 associated CHD including 282 cases with multiple malformati
ons, 375 cases with chromosomal anomalies and 104 cases with non-chromosoma
l syndromes. The proportion of prenatal diagnosis of associated CHD varied
in relation to the ultrasound screening policies from 17.9% in countries wi
thout 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 w
as 40.3%, (151/375 cases). This rate for recognized syndromes and multiply
malformed with CHD was 51.9% (54/104 cases) and 48.6%, (137/182 cases), res
pectively: 150/229 Down syndrome (65.8%) were livebirths. Concerning the sy
ndromic cases, the detection rate of deletion 22q11. situs anomalies and VA
TER association was 44.4%, 64.7%, and 46.6%, respectively. In conclusion, t
he 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 mal
formations are present. Cardiac defects affecting the size of the ventricle
s have the highest detection rate. Mean gestational age at discovery was 20
-24 weeks for the majority of associated cardiac defects. Copyright (C) 200
1 John Wiley & Sons, Ltd.