Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in Pakistan.

Introduction: Carrier screening for genetic conditions has long been a part of preconception and prenatal care. While the use of expanded carrier screening (ECS) is widely common in HICs (high income countries), the clinical actionability of ECS in LMICs (low middle income countries) with high consanguineous unions is not well-understood.

Method: Retrospective chart review of couples who presented to the Prenatal Genetics Clinic at Aga Khan University Hospital, between the period of June 2018 and November 2022.

Trends of acute poisoning: 22 years experience from a tertiary care hospital in Karachi, Pakistan.

Objective: To determine the trends of acute poisoning in terms of frequency, nature of poisoning agent, clinical presentation and its outcome.

Methods: The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data of patients who presented with poisoning between January 1989 and December 2010.The patients were randomly selected , and demographic, chemical information, clinical feature, treatment and outcome were analysed using SPSS 16.