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Exploring the clinical utility of exome sequencing/Mono, Duo, Trio in prenatal testing: a retrospective study in a tertiary care centre in South India.

Hemalatha IlangovanJanane ElangovanSumita DandaManisha Madhai BeckPreethi NavaneethanRekha A
Published in: Journal of perinatal medicine (2024)
Diagnostic yield of exome sequencing in our cohort was 53 %. The detection of pathogenic variants was maximum in those cases undergoing Mono exome sequencing. In places where there is a high prevalence of consanguinity and endogamy, NGS may be offered as first line test in the context of prenatal diagnosis.
Keyphrases
  • copy number
  • single cell
  • tertiary care
  • pregnant women
  • genome wide
  • dna methylation