Abstract
Objectives: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. Methods: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome. Results: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age
| Original language | English |
|---|---|
| Pages (from-to) | 545-552 |
| Number of pages | 8 |
| Journal | Prenatal Diagnosis |
| Volume | 22 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - 2002 |
Fingerprint
Keywords
- Congenital heart disease
- Fetus
- Karyotype
- Prenatal diagnosis
- Ultrasound
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynaecology
Cite this
Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 - The experience of a joint fetal-pediatric cardiology unit. / Paladini, Dario; Russo, MariaGiovanna; Teodoro, Adele; Pacileo, Giuseppe; Capozzi, Giovanni; Martinelli, Pasquale; Nappi, Carmine; Calabrò, Raffaele.
In: Prenatal Diagnosis, Vol. 22, No. 7, 2002, p. 545-552.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 - The experience of a joint fetal-pediatric cardiology unit
AU - Paladini, Dario
AU - Russo, MariaGiovanna
AU - Teodoro, Adele
AU - Pacileo, Giuseppe
AU - Capozzi, Giovanni
AU - Martinelli, Pasquale
AU - Nappi, Carmine
AU - Calabrò, Raffaele
PY - 2002
Y1 - 2002
N2 - Objectives: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. Methods: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome. Results: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age
AB - Objectives: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. Methods: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome. Results: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age
KW - Congenital heart disease
KW - Fetus
KW - Karyotype
KW - Prenatal diagnosis
KW - Ultrasound
UR - http://www.scopus.com/inward/record.url?scp=0035990109&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035990109&partnerID=8YFLogxK
U2 - 10.1002/pd.356
DO - 10.1002/pd.356
M3 - Article
C2 - 12124685
AN - SCOPUS:0035990109
VL - 22
SP - 545
EP - 552
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
SN - 0197-3851
IS - 7
ER -