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Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

ABSTRACT: BACKGROUND:Congenital cardiac defects, whether isolated or as part of a larger syndrome, are the most common type of human birth defect occurring on average in about 1% of live births depending on the malformation. As there is an expanding understanding of the underlying molecular mechanisms by which a cardiac defect may occur, there is a need to assess the current rates of diagnosis of cardiac defects by molecular sequencing in a clinical setting. METHODS AND RESULTS:In this report, we evaluated 34 neonatal and pediatric patients born with a cardiac defect and their parents using exomized preexisting whole genome sequencing (WGS) data to model clinically available exon-based tests. Overall, we identified candidate variants in previously reported cardiac-related genes in 35% (12/34) of the probands. These include clearly pathogenic variants in two of 34 patients (6%) and variants of uncertain significance in relevant genes in 10 patients (26%), of these latter 10, 2 segregated with clinically apparent findings in the family trios. CONCLUSIONS:These findings suggest that with current knowledge of the proteins underlying CHD, genomic sequencing can identify the underlying genetic etiology in certain patients; however, this technology currently does not have a high enough yield to be of routine clinical use in the screening of pediatric congenital cardiac defects.

SUBMITTER: Hauser NS

PROVIDER: S-EPMC5902396 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser Natalie S NS Solomon Benjamin D BD Vilboux Thierry T Khromykh Alina A Baveja Rajiv R Bodian Dale L DL

Molecular genetics & genomic medicine 20180125 2

<h4>Background</h4>Congenital cardiac defects, whether isolated or as part of a larger syndrome, are the most common type of human birth defect occurring on average in about 1% of live births depending on the malformation. As there is an expanding understanding of the underlying molecular mechanisms by which a cardiac defect may occur, there is a need to assess the current rates of diagnosis of cardiac defects by molecular sequencing in a clinical setting.<h4>Methods and results</h4>In this repo ...[more]

PMID: 29368431

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Project description:Background:Congenital lung malformations (CLM) are a gamut of lesions that originate throughout the embryonic period and manifest in the neonatal or sporadically in the prenatal period, characteristically might stay well for some time, to be found inadvertently or to present with complications. In the 13 years from Jan. 2003 to Dec. 2015, this prospective cohort study included consecutive pediatric patients under 12 years old, who presented either emergently or electively with any variety of CLM. The lesions encompassed in this assortment were congenital lobar emphysema (CLE), congenital pulmonary airway malformation (CPAM), bronchogenic cysts (BC), and bronchopulmonary sequestration (BPS). Results:Sixty-eight pediatric patients with CLM were operated at our institution; 18 CPAMs, 22 CLEs, 19 BPSs (17 intralobar and 2 extralobar), and 9 patients with BCs. The patients' age ranged from 1 to 54 months (mean age of 10.73?±?9.73 months), with overall male gender predominance (61.76%). Both CLE and CPAM had a male predominance, while BC and BPS had equivocal gender distribution. CLE patients had the earliest presentation at 2.89?±?1.5 months and congenital cystic adenomatoid malformations (CCAM) had the latest presentation at 21.78?±?15.6 months (F?=?15.27, p?<?0.0001). Lobectomy was the commonest procedure performed. Fifty-nine lobectomies were performed (21 LUL, 15 RLL, 14 LLL, 8 RUL, and 1 middle lobectomy). Six cystectomies were performed for BC. Twenty-three cases (33.8%) had postoperative complications that were mainly significant or prolonged air leak (13.24%), pneumonia (5.88%), 3 cases of hemothorax (4.4%), pulmonary atelectasis in 2 patients (2.94%), 1 patient developed effusion (1.47%), and there were 2 mortalities. Conclusions:CLM must be in mind in the differential diagnoses of any case with repeated infection, respiratory distress, or radiological abnormalities. Surgery in the form of lobectomy or lesser resection is generally safe.

Dataset Information

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Publications

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

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