Meschede D, Lemcke B, Stüssel J, Louwen F, Horst J
Institute of Human Genetics, Westfälische Wilhelms-Universität, Münster, Germany.
Prenat Diagn. 1998 Jul;18(7):700-5.
Intracytoplasmic sperm injection (ICSI) is a new and most powerful technique to treat severe forms of human infertility. While the follow-up studies have not shown an increased malformation risk so far, the genetic implications of ICSI are still not fully understood. For this reason, many institutions routinely recommend or even enforce invasive prenatal tests after successful intracytoplasmic sperm injection. We have counselled 107 women pregnant through ICSI about prenatal diagnosis. Sixty-five had already received genetic counselling prior to the treatment (group 1), while 42 had not attended our clinic before (group 2). They were free to choose between invasive and non-invasive diagnosis or no prenatal tests at all. Fifty-four per cent of these patients had an indication for prenatal karyotyping or other invasive procedures independent of ICSI. Only 17 per cent of the total cohort made use of amniocentesis or fetal blood sampling, 82 per cent opted for non-invasive tests (ultrasound, serum screening), and one couple did not wish any prenatal studies. The preference for non-invasive procedures was stronger in group 1 (94 per cent) than in group 2 (65 per cent). We suggest that if patients pregnant through ICSI have the option to choose freely between invasive and non-invasive prenatal tests, they strongly favour the latter.
卵胞浆内单精子注射（ICSI）是一种治疗严重人类不孕症的全新且极为有效的技术。尽管后续研究目前尚未显示出畸形风险增加，但ICSI的遗传学影响仍未被完全理解。因此，许多机构通常会在卵胞浆内单精子注射成功后推荐甚至强制进行侵入性产前检查。我们已为107名通过ICSI受孕的女性提供了产前诊断咨询。其中65名在治疗前已接受过遗传咨询（第1组），而42名此前未到我们诊所就诊（第2组）。她们可在侵入性诊断、非侵入性诊断或根本不进行产前检查之间自由选择。这些患者中有54%有进行产前核型分析或其他侵入性检查的指征，与ICSI无关。在整个队列中，只有17%的人进行了羊膜穿刺术或胎儿血液取样，82%的人选择了非侵入性检查（超声、血清筛查），还有一对夫妇不希望进行任何产前检查。第1组（94%）对非侵入性检查的偏好比第2组（65%）更强。我们认为，如果通过ICSI受孕的患者可以在侵入性和非侵入性产前检查之间自由选择，他们会强烈倾向于后者。
