TY - JOUR
T1 - Fetal double outlet right ventricle without heterotaxy syndrome
T2 - Diagnostic spectrum, associated extracardiac pathology and clinical outcomes
AU - Young, Aisling A.
AU - McBrien, Angela
AU - Caluseriu, Oana
AU - Haberer, Kim
AU - Wewala, Gayathri
AU - Eckersley, Luke
AU - Hornberger, Lisa K.
N1 - Publisher Copyright:
© 2021 John Wiley & Sons Ltd.
PY - 2021/8
Y1 - 2021/8
N2 - Objectives: To document the clinical spectrum and outcomes of fetal double outlet right ventricle (DORV) without heterotaxy in a recent diagnostic era. Methods: Prenatal cases of DORV consecutively diagnosed from 2007 to 2018 were retrospectively identified. Clinical records, including details regarding genetic testing and pre and postnatal imaging were reviewed. Results: DORV was diagnosed in 99 fetuses without heterotaxy. The most common anatomic subtype was subaortic ventricular septal defect (VSD) and normally related great arteries with (n = 45, 45%) or without (n = 13, 13%) pulmonary stenosis. The remainder had a subpulmonic VSD with transposed great arteries (n = 15, 15%), atrioventricular valve atresia (n = 24, 24%), or remote VSD (n = 2, 2%). A genetic diagnosis was found in 32 (34%) of 93 tested. Major extracardiac anomalies were found in 40(40%), including 17/24(71%) with and 22/69(32%) without an abnormal karyotype, with VACTERL association in 9. Genetic and/or extracardiac pathology was identified in 37/58(64%) with a subaortic VSD, 5/15(33%) with a subpulmonic VSD, 9/24(38%) of those with AV valve atresia and 2/2(100%) with a remote VSD. A genetic abnormality was a significant predictor of fetal demise (9/37 vs 1/62 p < 0.01) or pregnancy termination (12/35 vs 9/64 p = 0.03). Conclusions: Fetal DORV is associated with a high rate of genetic abnormalities and extracardiac pathology. The presence of genetic abnormalities impacts prenatal outcomes and parental decision-making.
AB - Objectives: To document the clinical spectrum and outcomes of fetal double outlet right ventricle (DORV) without heterotaxy in a recent diagnostic era. Methods: Prenatal cases of DORV consecutively diagnosed from 2007 to 2018 were retrospectively identified. Clinical records, including details regarding genetic testing and pre and postnatal imaging were reviewed. Results: DORV was diagnosed in 99 fetuses without heterotaxy. The most common anatomic subtype was subaortic ventricular septal defect (VSD) and normally related great arteries with (n = 45, 45%) or without (n = 13, 13%) pulmonary stenosis. The remainder had a subpulmonic VSD with transposed great arteries (n = 15, 15%), atrioventricular valve atresia (n = 24, 24%), or remote VSD (n = 2, 2%). A genetic diagnosis was found in 32 (34%) of 93 tested. Major extracardiac anomalies were found in 40(40%), including 17/24(71%) with and 22/69(32%) without an abnormal karyotype, with VACTERL association in 9. Genetic and/or extracardiac pathology was identified in 37/58(64%) with a subaortic VSD, 5/15(33%) with a subpulmonic VSD, 9/24(38%) of those with AV valve atresia and 2/2(100%) with a remote VSD. A genetic abnormality was a significant predictor of fetal demise (9/37 vs 1/62 p < 0.01) or pregnancy termination (12/35 vs 9/64 p = 0.03). Conclusions: Fetal DORV is associated with a high rate of genetic abnormalities and extracardiac pathology. The presence of genetic abnormalities impacts prenatal outcomes and parental decision-making.
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U2 - 10.1002/pd.5979
DO - 10.1002/pd.5979
M3 - Article
C2 - 34118793
AN - SCOPUS:85112307553
SN - 0197-3851
VL - 41
SP - 1118
EP - 1126
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 9
ER -