OBJECTIVES: We sought to establish the outlook for fetuses diagnosed with atrioventricular septal defect (AVSD) prenatally and its relation to additional cardiac, extracardiac and chromosomal abnormalities. BACKGROUND: Prediction of likely outcome of AVSD presenting prenatally is complicated by the wide variation in associated features. METHODS: Computerized records from 14,726 pregnancies referred to a fetal cardiology center were reviewed retrospectively. Pathological reports, postnatal records, follow-up inquiries and review of echocardiographic video recordings supplemented analysis of the records for all those with AVSD. RESULTS: Atrioventricular septal defect was confirmed in 301 fetuses. Eighty-six (39%) of the 218 with known karyotype had trisomy 21, and 21/218 (10%) had other chromosome abnormalities. Right isomerism occurred in 37/301 (12%) fetuses, left isomerism in 62 (20%), mirror image atrial arrangement in 2 (1%), and 200 (67%) had usual arrangement. Atrioventricular septal defect occurred without any other intracardiac abnormality in 155 fetuses (51%). Extracardiac abnormalities and nonkaryotypic syndromes were evident in 40 fetuses (13%, confidence interval [CI] 9.5-17.1%). Uncomplicated cardiac anatomy was significantly associated with the presence of karyotype abnormality (p < 0.0001). Parents opted for termination of pregnancy in 175/298 (58.5%). For the continuing pregnancies, Kaplan-Meier estimates for live birth, survival past the neonatal period and survival to three years were 82% (CI 75.3-88.9%), 55% (CI 46.0%-0/64.3%) and 38% (CI 27.1-48.6%), respectively. Fetal hydrops and earlier year of diagnosis were independent variables with adverse influence on survival. CONCLUSIONS: Despite some improvements in the outlook for AVSD diagnosed prenatally, the overall prognosis remains considerably poorer than that implied from surgical series. The detection of associated cardiac and extracardiac abnormalities is important in order to give the best indication of the likely outcome when counseling parents.
OBJECTIVES: We sought to establish the outlook for fetuses diagnosed with atrioventricular septal defect (AVSD) prenatally and its relation to additional cardiac, extracardiac and chromosomal abnormalities. BACKGROUND: Prediction of likely outcome of AVSD presenting prenatally is complicated by the wide variation in associated features. METHODS: Computerized records from 14,726 pregnancies referred to a fetal cardiology center were reviewed retrospectively. Pathological reports, postnatal records, follow-up inquiries and review of echocardiographic video recordings supplemented analysis of the records for all those with AVSD. RESULTS:Atrioventricular septal defect was confirmed in 301 fetuses. Eighty-six (39%) of the 218 with known karyotype had trisomy 21, and 21/218 (10%) had other chromosome abnormalities. Right isomerism occurred in 37/301 (12%) fetuses, left isomerism in 62 (20%), mirror image atrial arrangement in 2 (1%), and 200 (67%) had usual arrangement. Atrioventricular septal defect occurred without any other intracardiac abnormality in 155 fetuses (51%). Extracardiac abnormalities and nonkaryotypic syndromes were evident in 40 fetuses (13%, confidence interval [CI] 9.5-17.1%). Uncomplicated cardiac anatomy was significantly associated with the presence of karyotype abnormality (p < 0.0001). Parents opted for termination of pregnancy in 175/298 (58.5%). For the continuing pregnancies, Kaplan-Meier estimates for live birth, survival past the neonatal period and survival to three years were 82% (CI 75.3-88.9%), 55% (CI 46.0%-0/64.3%) and 38% (CI 27.1-48.6%), respectively. Fetal hydrops and earlier year of diagnosis were independent variables with adverse influence on survival. CONCLUSIONS: Despite some improvements in the outlook for AVSD diagnosed prenatally, the overall prognosis remains considerably poorer than that implied from surgical series. The detection of associated cardiac and extracardiac abnormalities is important in order to give the best indication of the likely outcome when counseling parents.
Authors: Laura E Briggs; Tara A Burns; Marie M Lockhart; Aimee L Phelps; Maurice J B Van den Hoff; Andy Wessels Journal: Dev Dyn Date: 2015-12-29 Impact factor: 3.780
Authors: Christine E MacColl; Cedric Manlhiot; Christiana Page; Brian W McCrindle; Steven E S Miner; Edgar T Jaeggi; Lynne E Nield Journal: Pediatr Cardiol Date: 2014-06-14 Impact factor: 1.655
Authors: James R Priest; Santhosh Girirajan; Tiffany H Vu; Aaron Olson; Evan E Eichler; Michael A Portman Journal: Am J Med Genet A Date: 2012-04-23 Impact factor: 2.802