Makerere University, Johns Hopkins University Research Collaboration (MU-JHU), P.O. Box 23491, Kampala, Uganda.
Kawempe National Referral Hospital, Kampala, Uganda.
BMC Med Educ. 2023 Oct 13;23(1):766. doi: 10.1186/s12909-023-04760-w.
Limited diagnostic capabilities, resources and health worker skills have deterred the advancement of birth defects surveillance systems in most low- and middle-income countries (LMICs). Empowering health workers to identify and diagnose major external birth defects (BDs) is crucial to establishing effective hospital-based BD surveillance. Makerere University-Johns Hopkins University (MU-JHU) Research Collaboration BD Surveillance System consists of three diagnostic levels: (1) surveillance midwives, (2) MU-JHU clinical team, and (3) U.S. Centers for Disease Control and Prevention (CDC) birth defects subject matter experts (SMEs) who provide confirmatory diagnosis. The diagnostic concordance of major external BDs by surveillance midwives or MU-JHU clinical team with CDC birth defects SMEs were estimated.
Study staff went through a series of trainings, including birth defects identification and confirmation, before surveillance activities were implemented. To assess the diagnostic concordance, we analyzed surveillance data from 2015 to 2021 for major external BDs: anencephaly, iniencephaly, encephalocele, spina bifida, craniorachischisis, microcephaly, anophthalmia/microphthalmia, anotia/microtia, cleft palate alone, cleft lip alone, cleft lip with cleft palate, imperforate anus, hypospadias, talipes equinovarus, limb reduction, gastroschisis, and omphalocele. Positive predictive value (PPV) as the proportion of BDs diagnosed by surveillance midwives or MU-JHU clinical team that were confirmed by CDC birth defects SMEs was computed. PPVs between 2015 and 2018 and 2019-2021 were compared to assess the accuracy of case diagnosis over time.
Of the 204,332 infants examined during 2015-2021, 870 infants had a BD. Among the 1,245 BDs identified, 1,232 (99.0%) were confirmed by CDC birth defects SMEs. For surveillance midwives, PPV for 7 of 17 BDs was > 80%. For the MU-JHU clinical team, PPV for 13 of 17 BDs was > 80%. Among surveillance midwives, PPV improved significantly from 2015 to 2018 to 2019-2021, for microcephaly (+ 50.0%), cleft lip with cleft palate (+ 17.0%), imperforate anus (+ 30.0%), and talipes equinovarus (+ 10.8%). Improvements in PPV were also observed among MU-JHU clinical team; however, none were significant.
The diagnostic accuracy of the midwives and clinical team increased, highlighting that BD surveillance, by front-line health care workers (midwives) in LMICs is possible when midwives receive comprehensive training, technical support, funding and continuous professional development.
在大多数中低收入国家（LMICs），诊断能力有限、资源有限以及卫生工作者技能不足，阻碍了出生缺陷监测系统的发展。授权卫生工作者识别和诊断主要的外部出生缺陷（BDs）对于建立有效的基于医院的 BD 监测至关重要。马凯雷雷大学 - 约翰霍普金斯大学（MU-JHU）合作 BD 监测系统由三个诊断级别组成：（1）监测助产士，（2）MU-JHU 临床团队，以及（3）美国疾病控制与预防中心（CDC）的出生缺陷主题专家（SMEs），他们提供确认诊断。评估了监测助产士或 MU-JHU 临床团队与 CDC 出生缺陷 SME 之间主要外部 BDs 的诊断一致性。
在实施监测活动之前，研究人员经过了一系列培训，包括出生缺陷的识别和确认。为了评估诊断一致性，我们分析了 2015 年至 2021 年期间的主要外部 BDs 监测数据：无脑畸形、无脑回畸形、脑膨出、脊柱裂、颅裂、小头畸形、无眼症/小眼症、无耳症/小耳症、腭裂单纯、唇裂单纯、唇裂伴腭裂、肛门闭锁、尿道下裂、马蹄内翻足、肢体减少、先天性腹裂和脐膨出。阳性预测值（PPV）作为由监测助产士或 MU-JHU 临床团队诊断的 BDs 中由 CDC 出生缺陷 SME 确认的比例进行计算。比较了 2015 年至 2018 年和 2019 年至 2021 年之间的 PPV，以评估随着时间的推移病例诊断的准确性。
在 2015 年至 2021 年期间检查的 204,332 名婴儿中，有 870 名婴儿患有 BD。在 1,245 例 BDs 中，1,232 例（99.0%）得到了 CDC 出生缺陷 SME 的确认。对于监测助产士，7 种 BDs 的 PPV 均>80%。对于 MU-JHU 临床团队，17 种 BDs 中有 13 种的 PPV>80%。在监测助产士中，PPV 从 2015 年到 2018 年到 2019-2021 年显著提高，小头畸形（+50.0%）、唇裂伴腭裂（+17.0%）、肛门闭锁（+30.0%）和马蹄内翻足（+10.8%）。MU-JHU 临床团队的 PPV 也有所提高；然而，没有一个是显著的。
助产士和临床团队的诊断准确性有所提高，这表明在中低收入国家，通过一线卫生保健工作者（助产士）进行 BD 监测是可能的，只要助产士接受全面的培训、技术支持、资金和持续的专业发展。
