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. All the statistical analyses were performed using the statistical software STATA version 17.0. RESULTS: Of the 202 individuals tested, 166 (82%) were identified to be carriers of at least one gene associated with a monogenic condition. Out of the 302 genes tested, individuals were found to be carriers of conditions associated with 87 genes. Clinical actionability of ECS was established in a total of 45 (45%) high risk couples undergoing screening using ECS. CONCLUSION: We report the first clinical experience of using next generation sequencing based ECS in 101 high-risk couples seeking consultation in the Genetics Clinic, at a tertiary healthcare center in Pakistan, showing that over 80% high-risk individuals are carriers of at least one condition and 45% of couples receive an actionable result to making autonomous informed reproductive decisions in future pregnancies.

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. RESULTS: Of the total hospital admissions during the period, 3,189(0.3%) were cases of poisoning. Of them, medical records of 705(22%) cases were reviewed; 462(65.5%) adult and 243(34.5%) paediatric cases below 16 years of age. The overall median age was 21 years (interquartile range: 4-32 years)Moreover, 544(87%) were critical at the time of presentation. In 647(92%) cases, the poisoning occurred at home. Psychiatric drugs were found involved in 205(29%) cases, followed by prescription drugs 172(24.4%), pesticides 108(15.3%), hydrocarbons 71(10%), analgesics 59(8.7%), household toxins 59(8.7%), alcohol and drug abuse 21(2.97%) and others 47(6.67%). CONCLUSIONS: Poisoning was a serious cause of morbidity in children and young adults. Medications were the leading cause and home was the most common place of incident.