OBJECTIVES: We report our recent experience with atrioventricular septal defect (AVSD) diagnosed in utero. METHODS: We reviewed fetal echocardiograms diagnosed with AVSD between November 2002 and November 2004, comparing fetuses with and without aneuploidy. We compared results with previous studies. RESULTS: Twenty (1.8%) fetuses had AVSD. Mean maternal age was 33 years (range 19-43). Mean gestational age was 26 weeks (range 18-38). Indications for fetal echocardiography were: abnormal obstetrical ultrasound (75%), chromosomal anomaly (15%), undetermined (10%). AVSD was an isolated cardiac defect in 5 (25%), associated with double-outlet right ventricle (9) or tetralogy of Fallot (3) in 12 (60%). Four had aortic arch anomalies. Atrioventricular valve regurgitation was mild in 7 (35%) and moderate in 4 (20%). Heart block existed in 2 (10%). Five (25%) with trisomy had Rastelli type A AVSD as a single lesion (odds ratio 24, P < .01). Extracardiac anomalies existed in 6, with and without aneuploidy. Pregnancy was terminated in 4 (20%), neonatal death in 4 (20%), and reparative surgery in 6 (30%), not ascertained in 6. CONCLUSION: Atrioventricular septal defect is usually an isolated cardiac lesion in fetuses with aneuploidy. In the absence of aneuploidy, fetal AVSD is often associated with conotruncal and aortic arch abnormalities, which are important in determining outcomes. Pregnancy termination and neonatal death continue to be prevalent.
OBJECTIVES: We report our recent experience with atrioventricular septal defect (AVSD) diagnosed in utero. METHODS: We reviewed fetal echocardiograms diagnosed with AVSD between November 2002 and November 2004, comparing fetuses with and without aneuploidy. We compared results with previous studies. RESULTS: Twenty (1.8%) fetuses had AVSD. Mean maternal age was 33 years (range 19-43). Mean gestational age was 26 weeks (range 18-38). Indications for fetal echocardiography were: abnormal obstetrical ultrasound (75%), chromosomal anomaly (15%), undetermined (10%). AVSD was an isolated cardiac defect in 5 (25%), associated with double-outlet right ventricle (9) or tetralogy of Fallot (3) in 12 (60%). Four had aortic arch anomalies. Atrioventricular valve regurgitation was mild in 7 (35%) and moderate in 4 (20%). Heart block existed in 2 (10%). Five (25%) with trisomy had Rastelli type A AVSD as a single lesion (odds ratio 24, P < .01). Extracardiac anomalies existed in 6, with and without aneuploidy. Pregnancy was terminated in 4 (20%), neonatal death in 4 (20%), and reparative surgery in 6 (30%), not ascertained in 6. CONCLUSION:Atrioventricular septal defect is usually an isolated cardiac lesion in fetuses with aneuploidy. In the absence of aneuploidy, fetal AVSD is often associated with conotruncal and aortic arch abnormalities, which are important in determining outcomes. Pregnancy termination and neonatal death continue to be prevalent.
Authors: Christine Ackerman; Adam E Locke; Eleanor Feingold; Benjamin Reshey; Karina Espana; Janita Thusberg; Sean Mooney; Lora J H Bean; Kenneth J Dooley; Clifford L Cua; Roger H Reeves; Stephanie L Sherman; Cheryl L Maslen Journal: Am J Hum Genet Date: 2012-10-05 Impact factor: 11.025