Cutillo D M, Hammond E A, Reeser S L, Kershner M A, Lukin B, Godmilow L, Donnenfeld A E
Department of Obstetrics and Gynecology, Pennsylvania Hospital, Philadelphia 19107.
Prenat Diagn. 1994 May;14(5):327-32. doi: 10.1002/pd.1970140502.
Prenatal diagnosis choices were reviewed in 473 women who presented for genetic counselling prior to 11 weeks' gestation for the indication of advanced maternal age. Group A consisted of 336 patients who were unaware of a possible association between chorionic villus sampling (CVS) and limb defects. Group B consisted of 137 patients who were provided this information. Fifty-one per cent of patients in group A and 45 per cent of patients in group B chose CVS. This difference was not significant by chi 2 analysis (P = 0.7). Patterns of prenatal diagnosis procedure utilization from 1987 to 1992 revealed a significant reduction in CVS utilization accompanied by a corresponding increase in amniocentesis after the association between CVS and limb defects was publicized. Referrals for CVS counselling also significantly declined. However, acceptance rates did not change for those patients who received genetic counselling. First-trimester genetic counselling, including a discussion regarding a possible association between CVS and limb defects, helps patients make informed decisions concerning prenatal diagnosis options, and, in our population, resulted in no change in CVS acceptance rates.
对473名在妊娠11周前因高龄产妇指征前来接受遗传咨询的女性的产前诊断选择进行了回顾。A组由336名患者组成，她们不知道绒毛取样（CVS）与肢体缺陷之间可能存在关联。B组由137名患者组成，她们被告知了这一信息。A组51%的患者和B组45%的患者选择了CVS。经卡方分析，这种差异不显著（P = 0.7）。1987年至1992年产前诊断程序的使用模式显示，在CVS与肢体缺陷之间的关联被公布后，CVS的使用显著减少，同时羊膜穿刺术的使用相应增加。CVS咨询转诊也显著减少。然而，接受遗传咨询的患者的接受率没有变化。孕早期遗传咨询，包括讨论CVS与肢体缺陷之间可能的关联，有助于患者就产前诊断选择做出明智的决定，在我们的人群中，CVS接受率没有变化。
