Baylor College of Medicine, School of Medicine, One Baylor Plaza, Houston, TX, USA.
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Prenat Diagn. 2018 Jan;38(1):75-79. doi: 10.1002/pd.5048. Epub 2017 Apr 24.
Prenatal and preconception care guidelines recommend obtaining family history to screen for reproductive genetic risk. The effectiveness of this screening and subsequent referral for genetic counseling is not well established. This study describes how often pregnant women with reproductive genetic risks were not referred for prenatal genetic counseling and the indications frequently missed.
We retrospectively reviewed genetic consultation medical records for first-trimester screen pretest counseling. These women had no documented indications for genetic counseling. We used the American College of Medical Genetics and Genomics referral guidelines for genetic counseling to identify missed indications within the parents' personal and family histories. Patients with advanced maternal age were excluded.
We reviewed 416 consultation notes. The counselor elicited a genetic risk for which a referral had not been made in 27% of the pregnant women. Of these, 70% were genetic risks in the family history, 23% in the couple's history, and 7% in the prenatal history. The most common missed indications were personal or family history of birth defects (38%), intellectual disability or autism (19%), and a prior positive genetic carrier screening test (14%).
Genetic risk factors are not consistently identified as a referral indication for reproductive genetic counseling. © 2017 John Wiley & Sons, Ltd.
产前和孕前保健指南建议获取家族史以筛查生殖遗传风险。这种筛查的有效性及其随后的遗传咨询转介尚未得到充分证实。本研究描述了有生殖遗传风险的孕妇未被转介进行产前遗传咨询的频率以及经常遗漏的指征。
我们回顾性地审查了早孕筛查预测试验咨询的遗传咨询病历。这些女性没有遗传咨询的书面指征。我们使用美国医学遗传学和基因组学学院的遗传咨询转介指南，在父母的个人和家族史中确定遗漏的指征。排除了高龄产妇。
我们审查了 416 份咨询记录。顾问在 27%的孕妇中发现了遗传风险，但没有进行转介。其中，70%为家族史中的遗传风险，23%为夫妻史中的遗传风险，7%为产前史中的遗传风险。最常见的遗漏指征是个人或家族史中有出生缺陷（38%）、智力障碍或自闭症（19%）和先前的阳性遗传携带者筛查试验（14%）。
遗传风险因素并未被一致确定为生殖遗传咨询的转介指征。© 2017 约翰威立父子公司。
