SECOND TRIMESTER AMNIOCENTESIS IN PRENATAL DIAGNOSIS OF GENETIC DISORDER—A SINGLE CENTER EXPERIENCE
*Dr. Rani Varadaraju, Dr. Kalaiyarasi U.
ABSTRACT
Background: Amniocentesis is routinely done under ultrasonographic guidance between 16 and 22 weeks of pregnancy. Prenatal diagnosis includes all diagnostic modalities done for the information of the embryo, including molecular genetics, cytogenetics & molecular cytogenetic methods. Now prenatal diagnosis is done for a large number of genetic disorders and birth defects. Objective: To evaluate the safety, efficacy, and outcome of second-trimester amniocentesis for the diagnosis of genetic disorders prenatally. Materials And Methods: This is a retrospective analytical study, done at Arokya Women’s Centre, Salem, Tamil Nadu, India, from June 2023 to May 2025. A total of 300 pregnant women had undergone 17-24 weeks of transabdominal amniocentesis under ultrasound guidance. A 23G/88 mm spinal needle was used. The needle was passed into the amniotic cavity through the maternal abdomen in a longitudinal direction. Once after placement of the needle, 20 ml of amniotic fluid is aspirated through a 10 cc syringe. All amniocentesis was performed by the ―two operators‖ technique. Results: A total of 300 amniocenteses were done. Aneuploidy screening (96.3%) was most common. Followed for beta thalassemia (2.3%), metabolic disorders (1.0%), and DMD (0.3%). Intra-amniotic bleeding (1.0%), per vaginal bleeding (0.3%), and difficult aspiration (1.0%) due to fibroid uterus. Overall aspiration success rate is 100%. Conclusion: Amniocentesis in the second trimester as an outpatient procedure under ultrasonography is a safe procedure with relatively no risk to the mother and fetus.
Keywords: Amniocentesis, prenatal, screening, genetic disorder.
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