Department of Obstetrics and Gynecology, Christiana Care Health System, Newark, Delaware.
Am J Perinatol. 2020 Feb;37(3):271-276. doi: 10.1055/s-0039-1678533. Epub 2019 Feb 22.
The American College of Obstetricians and Gynecologists (ACOG) guidelines recommend routine prenatal screening for genetic diseases that could affect the pregnancy. We sought to determine the rate of missed genetic information in the general obstetrician's routine prenatal genetic screening process.
This is a sequential case series of women referred for genetic counseling between March and August of 2015. Once identified, all women completed a personalized genetic history/exposure intake form (GHEF) created by our certified genetic counselors, followed by an in-person genetic counseling session with pedigree generation. The corresponding prenatal record was reviewed for genetic history obtained by the referring provider, most often utilizing the standardized ACOG prenatal intake form's genetic and family history sections. This information was then compared with that discovered in the GHEF and through the in-person genetic counseling session. Missed genetic information was defined as information discovered on the GHEF or during the in-person genetic counseling session which was not noted on the prenatal genetic screening document from the obstetric provider. Missing genetic information that lead to a change in clinical care, either through additional laboratory screening tests, fetal imaging or prenatal diagnostic testing through chorionic villus sampling, or amniocentesis was considered significant. We also assessed the study population as to maternal race, parity, and referral source. Statistical significance was assessed using Chi-squared testing with < 0.05 identifying significance.
A total of 299 patients underwent genetic counseling. Of them, 57.5% patients were referred from private providers, 28.1% from academic faculty practice, and 14.4% from a federally funded clinic. Missed genetic information was discovered in 171/299 (57.2%) of patients in the genetic counseling process. Of these 171 patients, 28.7% were identified via the GHEF and 52.6% during the in-person genetic counseling session. Of the 171 patients who had new genetic information discovered, 73 (42.7%) findings were significant. There was no statistical difference in patient race or referring office setting in the occurrence of new information found.
In our population, genetic history obtained in the general obstetrician's office, regardless of practice type, missed genetic information in over half of cases with approximately 40% of that information leading to a subsequent change in clinical care. Developing a genetic intake form similar to our pregenetic counseling form, or modification/clarification of the "Family History and Genetic Screening" section within the standardized ACOG prenatal genetic history form, used at most practices in our region may decrease missed genetic information in the general obstetrician's office.
美国妇产科医师学会（ACOG）指南建议对可能影响妊娠的遗传疾病进行常规产前筛查。我们旨在确定普通产科医生常规产前遗传筛查过程中遗传信息遗漏的发生率。
这是一项 2015 年 3 月至 8 月间转诊进行遗传咨询的妇女的连续病例系列研究。一旦确定，所有妇女都填写了由我们认证的遗传咨询师创建的个性化遗传史/暴露摄入量表（GHEF），然后进行面对面的遗传咨询，并生成家谱。对遗传提供者获得的遗传史进行了相应的产前记录审查，最常用的是利用 ACOG 产前摄入表的遗传和家族史部分。然后将此信息与 GHEF 中发现的信息以及通过面对面的遗传咨询会话中发现的信息进行比较。遗传信息缺失是指在 GHEF 中发现或在面对面的遗传咨询会话中发现但产科提供者的产前遗传筛查文件中未记录的信息。由于额外的实验室筛查测试、胎儿成像或通过绒毛膜绒毛取样或羊膜穿刺术进行的产前诊断测试而导致临床护理发生变化的遗漏遗传信息被认为是重要的。我们还评估了研究人群的产妇种族、产次和转诊来源。使用 χ2 检验评估统计学意义， < 0.05 表示具有统计学意义。
共有 299 名患者接受了遗传咨询。其中，57.5%的患者来自私人提供者，28.1%来自学术教职员工诊所，14.4%来自联邦资助的诊所。在遗传咨询过程中，171/299（57.2%）名患者发现了遗传信息缺失。在这 171 名患者中，28.7%是通过 GHEF 发现的，52.6%是在面对面的遗传咨询过程中发现的。在发现新遗传信息的 171 名患者中，有 73 名（42.7%）的发现具有重要意义。在新信息发现方面，患者种族或就诊办公室环境无统计学差异。
在我们的人群中，普通产科医生办公室获得的遗传史，无论实践类型如何，在一半以上的病例中都遗漏了遗传信息，其中约 40%的信息导致随后的临床护理发生变化。制定类似于我们产前咨询前的遗传摄入量表，或修改/澄清我们所在地区大多数实践中使用的 ACOG 产前遗传史表中的“家族史和遗传筛查”部分，可能会减少普通产科医生办公室的遗传信息遗漏。
