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日本孕妇对产前预测试遗传咨询的看法。

Pregnant women's opinions toward prenatal pretest genetic counseling in Japan.

机构信息

Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan.

Department of Psychosocial Medicine, National Center for Child Health and Development, Tokyo, Japan.

出版信息

J Hum Genet. 2021 Jul;66(7):659-669. doi: 10.1038/s10038-021-00902-4. Epub 2021 Jan 23.

Abstract

In-person models of genetic counseling (GC) have been the common method in Japan for pregnant women to receive GC. However, recent increases in the number of pregnant women considering undergoing prenatal testing have made it challenging to retain individualized in-person care. To explore pregnant women's opinions toward pretest GC models and the ideal time duration, a self-administered questionnaire survey was conducted for women at their first prenatal visit. A total of 114 valid respondents (93.4%) were included in the analyses. Of these, 80.7% of women preferred in-person GC, followed by classroom (9.6%), group (3.5%), and telegenetic-based GC (2.6%). Women with experience in undergoing prenatal testing significantly did not prefer in-person GC (p = 0.05). Sixty-two women (54.4%) preferred a duration of 15-29 min for pretest GC sessions, followed by 30-59 min (28.9%) and <15 min (14.9%). Women's preference of ≥30 min in length was significantly associated with anhedonia, singleton pregnancies, acquaintance with people with trisomy 21, and awareness of prenatal testing. Women who were unaware of the need for agreement with the partner for prenatal testing and who did not know the average life expectancy of a trisomy 21 patient significantly preferred <15 min in length over other durations. While the majority of women preferred in-person GC for <30 min, their preferences varied by their background characteristics, experiences, attitudes, and knowledge. These findings will help establish a prenatal GC system offering a choice of GC models in Japan; however, further large-scale studies are needed to confirm these findings.

摘要

在日本,为孕妇提供遗传咨询(GC)的常见方法是面对面咨询。然而,最近考虑进行产前检查的孕妇数量增加,使得保留个性化的面对面咨询变得具有挑战性。为了探索孕妇对产前 GC 模型的看法以及理想的时长,我们对首次产前就诊的女性进行了一项自我管理的问卷调查。共有 114 名有效受访者(93.4%)纳入分析。其中,80.7%的女性更喜欢面对面 GC,其次是课堂(9.6%)、小组(3.5%)和基于远程遗传的 GC(2.6%)。有产前检查经验的女性明显不喜欢面对面 GC(p=0.05)。62 名女性(54.4%)更喜欢 15-29 分钟的预测试 GC 时长,其次是 30-59 分钟(28.9%)和<15 分钟(14.9%)。女性偏好 30 分钟以上时长与快感缺失、单胎妊娠、与 21 三体患者相识以及对产前检查的认识显著相关。对于产前检查需要与伴侣达成一致的认识和不了解 21 三体患者平均预期寿命的女性,明显更喜欢<15 分钟时长,而不是其他时长。尽管大多数女性更喜欢 30 分钟以下的面对面 GC,但她们的偏好因背景特征、经验、态度和知识而异。这些发现将有助于在日本建立产前 GC 系统,提供 GC 模型的选择;然而,还需要进一步的大规模研究来证实这些发现。

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