Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi.

Abstract

This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This is a retrospective review conducted at the Aga Khan University Hospital, Karachi from January 2016 to July 2018. All cases undergoing invasive testing by Chorionic villus sampling for indications other than Thalassemia were included. Forty percent of patients in our cohort underwent invasive testing for muscular dystrophies particularly survival motor neuron (SMN) gene deletion and 32% for Cystic Fibrosis. Other rare disorders like JAM 3 mutation, PEX 1 gene, Barters Syndrome, Wardenberg, Bardet-Beidl Syndrome and Lissencephaly accounted for 28%. Sophistication in laboratory technology and DNA banking has improved the prenatal diagnosis of rare genetic disorders particularly SMN gene deletion. Integrated care involving foetal medicine specialist, Paediatric geneticist, and dedicated Laboratory personnel improves Counseling and Diagnosis of rare genetic conditions. Provision of dedicated nursing staff along with strengthening of welfare facility for non-affording patients would improve the uptake of invasive testing.

• Authors: Kouser Karim, Dhanwanti Dileep, Shama Munim
• Journal: JPMA. The Journal of the Pakistan Medical Association (J Pak Med Assoc) Vol. 70 Issue 4 Pg. 724-727 (Apr 2020) ISSN: 0030-9982 [Print] Pakistan
• PMID: 32296222 (Publication Type: Journal Article)

Topics

• Chorionic Villi Sampling
• Cystic Fibrosis (diagnosis, genetics)
• Female
• Heterozygote
• Homozygote
• Humans
• Muscular Dystrophies (diagnosis, genetics)
• Pakistan
• Pregnancy
• Prenatal Diagnosis
• Rare Diseases
• Retrospective Studies
• Spinal Muscular Atrophies of Childhood (diagnosis, genetics)
• Tertiary Care Centers