Prenatal diagnosis and outcome of fetuses with complete atrioventricular septal defect (a single center experience)

Introduction

Atrioventricular septal defect (AVSD) is the second most common congenital heart anomaly diagnosed in prenatal period and it is a strong echocardiographic marker of chromosomal abnormalities. In more than 50% of the cases, the anomaly is associated with chromosomal aberrations (ChA) and other intracardiac and extracardiac malformations, and their relation is important factor in continuing and outcome of pregnancy.

Objectives

The aim of this study is to evaluate fetuses with AVSD, ChA and presence of other malformations.

Yöntem

We analyzed retrospectively our database of examinations from 2001 to 2010 of fetuses where primary diagnosis was AVSD. We evaluated 28 fetuses, using Acuson Sequoia 256 and Acuson Aspen Advanced machine.

Bulgular

Mean maternal age was 28 years, mean gestational age was 31 weeks; in 12 it was first pregnancy, in 6 second, in 7 third, while in 3 was fifth. In 14 fetuses ASVD was an isolated anomaly, 16 had chromosomal anomalies; all were trisomy 21, and among them 12 had extracardiac malformations. Nineteen of 28 patients had balanced AVSD, and 10 of them had chromosomal aberrations. Seven fetuses had cardiac abnormalities, 2 had aortic coarctation, and both died in utero, 2 had tetralogy of Fallot, 2 had muscular VSD while 1 had critical pulmonary stenosis; this child died in the neonatal period. Out of 28, 2 died in utero in 25 and 27 gestational weeks, respectively; one died in the neonatal period; 26 were live born where 12 were premature with low birth weight. Out of 12 children without chromosomal abnormalities, 4 had died in first year of life due to respiratory infections, while 8 other during the first two years of life were referred abroad for surgical intervention. Of 16 children with chromosomal abnormalities, 3 died in utero and in the neonatal period, 4 have been operated abroad, and others were on the waiting list for surgery.

Sonuç

Our experience with the antenatal diagnosis of AVSD verifies its strong association with trisomy 21 for the first time in a Kosovo population. Antenatal diagnosis of AVSD is an important echocardiographic sign that necessities karyotyping.  

 

Anahtar Kelimeler

Fetal echocardiography, AVSD, trisomy 21, Down syndrome

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