Parental decision after genetic counseling for prenatal detection of sex chromosomal abnormalities

The study was undertaken to evaluate the importance of Genetic counseling in prenatally detected fetal sex chromosomal abnormality observed through amniotic fluid culture or chorionic villi sampling. We also evaluated the impact of pre and post test genetic counseling on the parental decision. The sample population included a total of 1793 women who were referred for prenatal genetic testing with mean gestational age of 16 weeks for amniocentesis and 11 weeks for Chorionic villus sampling (CVS), to rule out chromosomal aneuploidies, from 2006 to 2011. All the patients were offered pretest counseling and after informed written consent was obtained from the patients. CVS and amniocentesis procedure was done under sonography guidance as per standard protocol. The fetal Karyotype was done and the result obtained was tabulated and analyzed statistically. Out of 1793 cases, frequency of sex chromosomal abnormalities was 0.84%. Sex chromosomal variants were observed in 1.004% cases. After posttest counseling, termination of pregnancy was decided by 86.7% of the women with fetal sex chromosomal aneuploidies, while 13.3% decided to continue with the pregnancy. Genetic Counseling helped the patients to understand the consequences of the outcome which in turn helped them to take informed desired action.