Six-year experience of prenatal diagnosis for beta thalassemia in twin pregnancies and selective foetal reduction - A case series

• Published in: Journal of the Pakistan Medical Association Vol. 70; no. 11; pp. 2061 - 2064
• Main Authors: Ehsan, Yasmeen, Bashir, Shabnam, Sabir, Furqan, Ghafoor, Mahmood, Khaliq, Shagufta
• Format: Journal Article
• Language: English
• Published: Pakistan Knowledge Bylanes 01.11.2020
• Subjects: beta-Thalassemia - diagnosis; beta-Thalassemia - genetics; Care and treatment; Chorionic villus sampling; Diagnosis; Female; Humans; Methods; Obstetrical research; Pregnancy; Pregnancy Reduction, Multifetal; Pregnancy, Twin; Prenatal Diagnosis; Retrospective Studies; Thalassemia; Twin studies; Pakistan; Chorionic Villi, Prenatal diagnosis, Genetic Counseling, Beta-Thalassemia, Selective Foetal Termination
• ISSN: 0030-9982
• DOI: 10.47391/JPMA.716

A retrospective study was conducted for prenatal diagnosis and selective foetal reduction, which included 41 beta thalassemia carrier couples with twin pregnancy. Chorionic villi sampling was carried out at 12-14 weeks of gestation. Thirty-three couples presented with dizygotic while eight had monozygotic twins. Molecular analysis for beta thalassemia revealed similar results in both the twins in 27 cases, while different results were obtained in 14 cases. Selective foetal reduction was offered to couples with discordant results. One miscarriage occurred due to the procedure. The results of prenatal molecular analysis were confirmed by postnatal molecular analysis. This series of trans-abdominal Chorionic villi sampling in twin pregnancies with the option of selective foetal reduction of the affected foetus was found to be useful as well as acceptable by the at-risk couples.