Roeda Shams, Fazia Raza, Aman Nawaz.
Safety and effectiveness of trans abdominal chorionic villus sampling for prenatal diagnosis of B-thalassemia.
J Med Sci May ;28(1):55-8.

Objectives: To assess safety and effectiveness of trans abdominal, chorionic villus sampling( CVS) for pre-natal diagnosis of B-thalassemia.Material & Methods: This is prospective observational study conducted over a period from Jan 2018 to Dec 2018 in Rehman Medical Institute of Peshawar-Pakistan. Total of 50 patients were recruited in study. All couples who were carriers of thalas-semia trait or had previous child with thalassemia major were included. Patients with multiple gestation, active vaginal bleed-ing before procedure, gestational age > 16 weeks, recurrent unexplained abortions, medical disease such as overt diabe-tes, chronic hypertension and patients who refused termination in case of positive diagnosis were excluded from the study A written consent about the CVS procedure, its complications and decision for termination in case of positive diagnosis was taken from all couples. Period of gestation was calculated by booking ultrasound and LMP and procedure was performed between 10-14 weeks. The procedure was conducted in interventional radiology unit of RMI through Trans abdominal route under aseptic technique and local anesthesia (5-10ml of 2% xylocaine). Results: DNA analysis of chorionic villus sampling showed that 17(34%) fetuses had thalassemia major, 10 fetuses (20%) thalassemia trait and 23 (46%) had no Beta Thalassemia mutation. Twenty eight (56%) couples had consanguineous mar-riages. Only one patient (2%) had procedure related spontaneous miscarriage. None of sample was reported as insufficient or in adequate.Conclusion; Trans abdominal approach for chorionic villus sampling is a safe and effective tool for prenatal diagnosis of thalassemia major provided done with skilled hands.

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