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Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome

Deepti Saxena¹, Somya Srivastava¹, Rajesh K Maurya¹

¹Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Prenatal Diagnosis

|March 25, 2023

Abstract

Objective:

Genetic diseases are an important cause of neonatal and childhood mortality. For couples with a history of demise of previous children, screening for carrier status can be done by exome sequencing (ES) of the parents. Our aim was to describe the clinical utility of "targeted parental ES" in such couples and to assess the utility of reanalysis of parental ES data.

Method:

We analyzed previous records, including ES reports, of 52 families with demise of previous offspring with a suspected genetic disorder. We also retrieved and reanalyzed raw data of parental ES in FASTQ format from the testing lab.

Results:

A potential diagnosis was obtained in 30/52 (57.7%) of couples. We found 38/70 (54.3%) novel variants in this cohort. Shared carrier status for more than one autosomal or X-linked recessive disorder was identified in 18% of couples. Reanalysis of raw data resulted in a reclassification of variants in 15% of cases.

Conclusion:

Targeted parental ES can be helpful for families with demise of previous offspring with a suspected genetic disorder.

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