Elective Termination Decision in Sex Chromosomal Abnormalities-Current Situation in Decision Making Process

Haluk Akin

doi:10.4172/2161-038x.1000e107

Abstract

Elective termination rates subsequent to prenatal diagnosis differed greatly depending on the sex chromosome abnormality. The primary offender was 45, X (54%), followed by 47, XXY (46%), 47, XYY (29%), and 47, XXX (17%) in a local study [3]. In our recent study, a total of 60 pregnancies (0.80%) with SCA were evaluated. Turner syndrome was the most commonly diagnosed SCA in prenatal diagnosis (60%). The most common reason for referral in relation to pregnancies with Turner syndrome was cystic hygroma observed via ultrasonography. Of 14 pregnancies presenting with a prenatal diagnosis of SCA (Turner syndrome: 7, Klinefelter syndrome: 5, Mosaic Turner syndrome: 2), 12 (85.7%) were terminated. The ratio of SCA in the prenatally diagnosed cases was similar to that reported in the literature. Although the ratio of terminated pregnancies with Turner syndrome was similar to that reported in European countries, all the pregnancies with Klinefelter syndrome chose termination, which showed a regional difference in Turkey [1].

Highlights

Sex Chromosome Abnormalities (SCAs) are the most common genetic disorder with a frequency of 1/400 or 1/500 live births [1]
A limited number of principles, guidelines and standards must be applied when counseling in regard to “testing for fetal genetic disease.”. These principles dictate that genetic counseling should be non-directive and unbiased and that parental decisions should be supported regardless of the reproductive choice [2]
Elective termination rates subsequent to prenatal diagnosis differed greatly depending on the sex chromosome abnormality

Summary

Introduction

Sex Chromosome Abnormalities (SCAs) are the most common genetic disorder with a frequency of 1/400 or 1/500 live births [1]. Reproductive decisions post genetic counseling, in all genetic conditions; represent a dynamic interaction between patients, obstetricians and genetic counselors. A limited number of principles, guidelines and standards must be applied when counseling in regard to “testing for fetal genetic disease.” These principles dictate that genetic counseling should be non-directive and unbiased and that parental decisions should be supported regardless of the reproductive choice [2].

Results

Conclusion