Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO.
Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO.
Am J Obstet Gynecol MFM. 2022 Jan;4(1):100494. doi: 10.1016/j.ajogmf.2021.100494. Epub 2021 Sep 25.
Guidelines recommend that all pregnant women should be offered prenatal genetic counseling, which includes discussions of aneuploidy and carrier screening. Previous studies have demonstrated racial and ethnic disparities in the completion of prenatal genetic testing, but few studies have evaluated for disparities in the offering of these tests. Prenatal genetic screening is a covered provision of Colorado Medicaid. We hypothesized that in the absence of a financial barrier, disparities in prenatal genetic counseling would be eliminated.
To evaluate disparities in prenatal genetic counseling by directly assessing if patients received counseling at the time of their first prenatal visit.
This retrospective cross-sectional study included patients presenting for their first prenatal visit at <20 weeks' gestation. Patients who completed prenatal genetic testing were classified as counseled, and the remaining patients' medical records were reviewed. Moreover, patients were divided into 2 groups based on their counseling status (yes or no), separately for aneuploidy and carrier screening.
Of 1103 patients who met the inclusion criteria, 97.2% were counseled for aneuploidy screening, whereas 73.3% were counseled on carrier screening. For aneuploidy, younger age, Black race, a relationship status of single, and presentation at a later gestational age were associated with lack of aneuploidy counseling on univariate analysis. After multivariable analysis, only maternal age (odds ratio, 1.09; 95% confidence interval, 1.01-1.19) and gestational age (odds ratio, 0.84; 95% confidence interval, 0.76-0.93) were statistically significantly associated with aneuploidy counseling. Treatment by a physician care team, having a comorbidity score of ≥1, and presenting at a later gestational age were associated with not receiving carrier screening counseling (univariate analysis). Multivariable analysis indicated significant associations with gestational age (odds ratio, 0.90; 95% confidence interval, 0.86-0.94) and having a comorbidity (odds ratio, 0.72; 95% confidence interval, 0.55-0.94).
Prenatal genetic counseling was less likely to be provided to women who present for prenatal care at a later gestational age. This finding was of concern because women who are less privileged were more likely to present to prenatal care at a later gestational age. Providing access to early prenatal care and developing specialized care pathways for women entering prenatal care in the second trimester of pregnancy could address disparities in prenatal genetic counseling.
指南建议所有孕妇都应接受产前遗传咨询,包括非整倍体和携带者筛查的讨论。先前的研究表明,在接受产前基因检测方面存在种族和民族差异,但很少有研究评估这些检测的提供情况存在差异。产前基因筛查是科罗拉多州医疗补助计划的一项涵盖内容。我们假设,在不存在经济障碍的情况下,产前遗传咨询方面的差异将被消除。
通过直接评估患者在首次产前就诊时是否接受了咨询,评估产前遗传咨询方面的差异。
本回顾性横断面研究纳入了妊娠 20 周前首次就诊的患者。完成产前基因检测的患者被归类为接受了咨询,其余患者的病历进行了回顾。此外,根据患者的咨询情况(是或否),将患者分为两组,分别为非整倍体和携带者筛查。
在符合纳入标准的 1103 名患者中,97.2%接受了非整倍体筛查咨询,而 73.3%接受了携带者筛查咨询。在单变量分析中,年龄较小、黑人种族、单身关系状况和较晚的妊娠龄与非整倍体筛查咨询的缺乏有关。多变量分析后,仅产妇年龄(比值比,1.09;95%置信区间,1.01-1.19)和妊娠龄(比值比,0.84;95%置信区间,0.76-0.93)与非整倍体咨询有统计学显著关联。由医生护理团队治疗、合并症评分≥1 以及较晚的妊娠龄与未接受携带者筛查咨询相关(单变量分析)。多变量分析表明,与妊娠龄(比值比,0.90;95%置信区间,0.86-0.94)和合并症(比值比,0.72;95%置信区间,0.55-0.94)显著相关。
较晚妊娠龄就诊的孕妇接受产前遗传咨询的可能性较小。这一发现令人担忧,因为处于不利地位的妇女更有可能在妊娠晚期接受产前保健。提供早期产前保健并为妊娠中期进入产前保健的妇女制定专门的护理途径,可以解决产前遗传咨询方面的差异。