Dataset Information

Longitudinal Assessment of Outcome From Prenatal Diagnosis Through Fontan Operation for Over 500 Fetuses With Single Ventricle-Type Congenital Heart Disease: The Philadelphia Fetus-to-Fontan Cohort Study.

ABSTRACT: Background Prenatal diagnosis of single ventricle-type congenital heart disease is associated with improved clinical courses. Prenatal counseling allows for optimal delivery preparations and opportunity for prenatal intervention. Expectant parents frequently ask what the likelihood of survival through staged palliation is and the factors that influence outcome. Our goal was specifically to quantify peri- and postnatal outcomes in this population. Methods and Results We identified all patients with a prenatal diagnosis of single ventricle-type congenital heart disease presenting between July 2004 and December 2011 at our institution. Maternal data, fetal characteristics, and data from the postnatal clinical course were collected for each patient. Kaplan-Meier curves and multivariate analysis with logistic regression were used to evaluate variables associated with decreased transplant-free survival. Five hundred two patients were identified, consisting of 381 (76%) right ventricle- and 121 left ventricle-dominant lesions. After prenatal diagnosis, 42 patients did not follow up at our center; 79 (16%) chose termination of pregnancy, and 11 had intrauterine demise with 370 (74%) surviving to birth. Twenty-two (6%) underwent palliative care at birth. Among 348 surviving to birth with intention to treat, 234 (67%) survived to at least 6 months post-Fontan palliation. Presence of fetal hydrops, right ventricle dominance, presence of extracardiac anomalies, and low birthweight were significantly associated with decreased transplant-free survival. Conclusions In patients with a prenatal diagnosis of single ventricle-type congenital heart disease and intention to treat, 67% survive transplant-free to at least 6 months beyond Fontan operation. An additional 5% survive to 4 years of age without transplant or Fontan completion. Fetuses with right ventricle-dominant lesions, extracardiac anomalies, hydrops, or low birthweights have decreased transplant-free survival.

SUBMITTER: Liu MY

PROVIDER: S-EPMC6404885 | biostudies-other | 2018 Oct

REPOSITORIES: biostudies-other

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Longitudinal Assessment of Outcome From Prenatal Diagnosis Through Fontan Operation for Over 500 Fetuses With Single Ventricle-Type Congenital Heart Disease: The Philadelphia Fetus-to-Fontan Cohort Study.

Liu Michael Y MY Zielonka Benjamin B Snarr Brian S BS Zhang Xuemei X Gaynor J William JW Rychik Jack J

Journal of the American Heart Association 20181001 19

Background Prenatal diagnosis of single ventricle-type congenital heart disease is associated with improved clinical courses. Prenatal counseling allows for optimal delivery preparations and opportunity for prenatal intervention. Expectant parents frequently ask what the likelihood of survival through staged palliation is and the factors that influence outcome. Our goal was specifically to quantify peri- and postnatal outcomes in this population. Methods and Results We identified all patients wi ...[more]

PMID: 30371305

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Project description:BackgroundCongenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period. The concept of genetic factors as an etiology of CGIO has been accepted, but investigations about CGIO have mainly focused on aneuploidy, and the focus has been on duodenal obstruction. The objective of this study was to evaluate the risk of chromosome aberrations (including numeric and structural aberrations) in different types of CGIO. A second objective was to assess the risk of abnormal CNVs detected by copy number variation sequencing (CNV-seq) in fetuses with different types of CGIO.MethodsData from pregnancies referred for invasive testing and CNV-seq due to sonographic diagnosis of fetal CGIO from 2015 to 2020 were obtained retrospectively from the computerized database. The rates of chromosome aberrations and abnormal CNV-seq findings for isolated CGIOs and complicated CGIOs and different types of CGIOs were calculated.ResultsOf the 240 fetuses with CGIO that underwent karyotyping, the detection rate of karyotype abnormalities in complicated CGIO was significantly higher than that of the isolated group (33.8% vs. 10.8%, p < 0.01). Ninety-three cases with normal karyotypes further underwent CNV-seq, and CNV-seq revealed an incremental diagnostic value of 9.7% over conventional karyotyping. In addition, the incremental diagnostic yield of CNV-seq analysis in complicated CGIOs (20%) was higher than that in isolated CGIOs (4.8%), and the highest prevalence of pathogenic CNVs/likely pathogenic CNVs was found in the duodenal stenosis/atresia group (17.5%), followed by the anorectal malformation group (15.4%). The 13q deletion, 10q26 deletion, 4q24 deletion, and 2p24 might be additional genetic etiologies of duodenal stenosis/atresia.ConclusionsThe risk of pathogenic chromosomal abnormalities and CNVs increased in the complicated CGIO group compared to that in the isolated CGIO group, especially when fetuses presented duodenal obstruction (DO) and anorectal malformation. CNV-seq was recommended to detect submicroscopic chromosomal aberrations for DO and anorectal malformation when the karyotype was normal. The relationship between genotypes and phenotypes needs to be explored in the future to facilitate prenatal diagnosis of fetal CGIO and yield new clues into their etiologies.

Dataset Information

Longitudinal Assessment of Outcome From Prenatal Diagnosis Through Fontan Operation for Over 500 Fetuses With Single Ventricle-Type Congenital Heart Disease: The Philadelphia Fetus-to-Fontan Cohort Study.

Publications

Longitudinal Assessment of Outcome From Prenatal Diagnosis Through Fontan Operation for Over 500 Fetuses With Single Ventricle-Type Congenital Heart Disease: The Philadelphia Fetus-to-Fontan Cohort Study.

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