Use Of Next Generation Sequencing Techniques In Identification Of Causative Etiology In Fetuses With
33/2/2019-TF/Rare/BMS
ICMR
Sept. 1, 2020
Aug. 31, 2023
Three Year
Novel Genes In Lethal Disorders
Observational study
Quantitative data
Study of phenotypes in fetuses with abnormal ultrasound findings by postnatal examination b. To study the role of next generation sequencing technique in etiological diagnosis c. To identify novel gen
Fetus, Prenatal diagnosis, structural Malformation, cytogenetic microarray, whole exome sequencing,
The findings show the utility of postnatal evaluation of fetus after termination or delivery. Copy number variations causative of the fetal abnormalities was identified in 21% cases. Additionally, diagnosis of very rare genetic disorders (less than 10 cases worldwide) was made.
93,37,898/-
Dr. Deepti Saxena/None/Department of Medical Genetics