Abstract：
BACKGROUND: Lack of data on the burden and scope of congenital disorders (CDs) in South Africa undermines resource allocation and limits the ability to detect signals from potentially teratogenic pregnancy exposures.
METHODS: We used routine electronic data in the Western Cape Pregnancy Exposure Registry (PER) to determine the overall and individual prevalence of CD identified on neonatal surface examination at birth in the Western Cape, South Africa, 2016-2022. CD was confirmed by record review. The contribution of late (≤24 months) and antenatal diagnoses was assessed. We compared demographic and obstetric characteristics between women with/without pregnancies affected by CD.
RESULTS: Women with a viable pregnancy (>22 weeks gestation; birth weight ≥ 500 g) (n = 32,494) were included. Of 1106 potential CD identified, 56.1% were confirmed on folder review. When internal and minor CD were excluded the prevalence of major CD identified on surface examination at birth was 7.2/1000 births. When missed/late diagnoses on examination (16.8%) and ultrasound (6.8%) were included, the prevalence was 9.2/1000 births: 8.9/1000 livebirths and 21.5/1000 stillbirths. The PER did not detect 21.5% of major CD visible at birth. Older maternal age and diabetes mellitus were associated with an increased prevalence of CD. Women living with/without HIV (or the timing of antiretroviral therapy, before/after conception), hypertension or obesity did not significantly affect prevalence of CD.
CONCLUSIONS: A surveillance system based on routine data successfully determined the prevalence of major CD identified on surface examination at birth at rates slightly higher than in equivalent studies. Overall rates, modeled at ~2%, are likely underestimated. Strengthening routine neonatal examination and clinical record-keeping could improve CD ascertainment.
METHODS: We used routine electronic data in the Western Cape Pregnancy Exposure Registry (PER) to determine the overall and individual prevalence of CD identified on neonatal surface examination at birth in the Western Cape, South Africa, 2016-2022. CD was confirmed by record review. The contribution of late (≤24 months) and antenatal diagnoses was assessed. We compared demographic and obstetric characteristics between women with/without pregnancies affected by CD.
RESULTS: Women with a viable pregnancy (>22 weeks gestation; birth weight ≥ 500 g) (n = 32,494) were included. Of 1106 potential CD identified, 56.1% were confirmed on folder review. When internal and minor CD were excluded the prevalence of major CD identified on surface examination at birth was 7.2/1000 births. When missed/late diagnoses on examination (16.8%) and ultrasound (6.8%) were included, the prevalence was 9.2/1000 births: 8.9/1000 livebirths and 21.5/1000 stillbirths. The PER did not detect 21.5% of major CD visible at birth. Older maternal age and diabetes mellitus were associated with an increased prevalence of CD. Women living with/without HIV (or the timing of antiretroviral therapy, before/after conception), hypertension or obesity did not significantly affect prevalence of CD.
CONCLUSIONS: A surveillance system based on routine data successfully determined the prevalence of major CD identified on surface examination at birth at rates slightly higher than in equivalent studies. Overall rates, modeled at ~2%, are likely underestimated. Strengthening routine neonatal examination and clinical record-keeping could improve CD ascertainment.
摘要：
背景：缺乏有关南非先天性疾病（CD）的负担和范围的数据破坏了资源分配，并限制了检测潜在致畸妊娠暴露信号的能力。
方法：我们使用西开普省妊娠暴露登记处（PER）的常规电子数据来确定西开普省出生时新生儿体表检查中确定的CD的总体和个体患病率，南非,2016-2022年。光盘经记录审查确认。评估了晚期（≤24个月）和产前诊断的贡献。我们比较了有/没有受CD影响的妊娠妇女的人口统计学和产科特征。
结果：包括有存活妊娠（妊娠>22周；出生体重≥500g）的妇女（n=32,494）。在确定的1106张潜在CD中，56.1％在文件夹审查中得到确认。当排除内部和次要CD时，出生时在表面检查中确定的主要CD的患病率为7.2/1000。当包括检查中的漏诊/晚期诊断（16.8%）和超声检查（6.8%）时，患病率为9.2/1000例:8.9/1000例活产和21.5/1000例死产.PER未检测到出生时可见的主要CD的21.5％。高龄和糖尿病与CD患病率增加有关。有/没有艾滋病毒的妇女（或抗逆转录病毒治疗的时机，受孕之前/之后)，高血压或肥胖对CD的患病率无显著影响.
结论：基于常规数据的监测系统成功地确定了出生时体表检查中确定的主要CD的患病率，其患病率略高于同等研究。整体利率,建模为~2%，可能被低估了。加强常规新生儿检查和临床记录保存可以提高CD的确定。
方法：我们使用西开普省妊娠暴露登记处（PER）的常规电子数据来确定西开普省出生时新生儿体表检查中确定的CD的总体和个体患病率，南非,2016-2022年。光盘经记录审查确认。评估了晚期（≤24个月）和产前诊断的贡献。我们比较了有/没有受CD影响的妊娠妇女的人口统计学和产科特征。
结果：包括有存活妊娠（妊娠>22周；出生体重≥500g）的妇女（n=32,494）。在确定的1106张潜在CD中，56.1％在文件夹审查中得到确认。当排除内部和次要CD时，出生时在表面检查中确定的主要CD的患病率为7.2/1000。当包括检查中的漏诊/晚期诊断（16.8%）和超声检查（6.8%）时，患病率为9.2/1000例:8.9/1000例活产和21.5/1000例死产.PER未检测到出生时可见的主要CD的21.5％。高龄和糖尿病与CD患病率增加有关。有/没有艾滋病毒的妇女（或抗逆转录病毒治疗的时机，受孕之前/之后)，高血压或肥胖对CD的患病率无显著影响.
结论：基于常规数据的监测系统成功地确定了出生时体表检查中确定的主要CD的患病率，其患病率略高于同等研究。整体利率,建模为~2%，可能被低估了。加强常规新生儿检查和临床记录保存可以提高CD的确定。
