Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?

摘要: Sex chromosome trisomies (SCT), an extra X in females (triple X, XXX), males with (Klinefelter syndrome, XXY) or Y (XYY) occur because of errors during meiosis and are relatively frequent humans. Their identification has never been the goal prenatal diagnosis (PD) but they almost escape detection by any methods commonly use. Despite recommendations guide-lines which emphasize importance structured counseling before after PD, most women remain unaware that testing for serious genetic abnormalities is more likely to uncover these trisomies. With increasing use PD prospective parents receive a sex faced dilemma whether terminate pregnancy carry it term. dramatic emotionally devastating consequences having make such decision, have little opportunity consider advance possible outcomes and, rather than relying on their own feelings judgements, forced depend advice professionals who may not themselves be fully aware what can mean development child. We address here principles reproductive autonomy together analysis major issues ought discussed carried out order minimize detrimental effects caused this unexpected finding. © 2013 Wiley Periodicals, Inc.