Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for highrates of pregnancy termination

Sex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result or a test carried out for another purpose. For most S CAs, the prognosis is milder and less predictable than trisomy 21, and ther efore parents are faced with a difficult decision regarding the option of p regnancy termination. While studies from Europe and the USA report a declin ing trend in termination rates for SCA, our local experience is different. During the period 1989-1998, we diagnosed 60 SCA (including mosaics) in 20 106 amniocenteses (0.29%) and 48 (80%) of these pregnancies were terminated , a significantly higher proportion than has been reported in Europe and th e USA. The present study shows that the difference between our experience a nd others' may be related to differences in cultural norms and values. Thir ty women were interviewed, of whom 23 terminated and seven continued the pr egnancy. Interview analyses showed that the main reason behind the decision to terminate the pregnancy was associated with the parents' fear of non-sp ecific abnormality of the child, and concerns about abnormal sexual develop ment. Although genetic counseling practised in our center aims to be non-di rective, 56% of the women reported that the counseling was either directive towards termination, or that they at least felt that the counselor's attit ude was pro-termination. Most women (93%) reported themselves as having com e to terms with their decision. Copyright (C) 2001 John Wiley & Sons, Ltd.