Zaki Umaima, Qazi Saqib Hamid, Shamim Urooj, Fatima Shibrah, Das Jai K, Bhutta Zulfiqar A
Institute for Global Health and Development, The Aga Khan University, Karachi, Pakistan.
Department of Surgery, Section of Paediatric Surgery, The Aga Khan University, Karachi, Pakistan.
Neonatology. 2025;122(Suppl 1):224-244. doi: 10.1159/000541697. Epub 2024 Oct 25.
Congenital anomalies are one of the major causes of the global burden of diseases, and low- and middle-income countries (LMICs) are disproportionately affected. This review assesses the prenatal and postnatal screening methods and compares the prevalence of major congenital anomalies in LMICs.
We conducted a systematic search in MEDLINE/PubMed, CINAHL, Cochrane databases of systematic reviews, clinical trials.gov for relevant studies using Medical Subject Headings and keywords. We categorized the studies into different systems and screening methods depending on the time the tests were conducted (prenatal or postnatal). The studies were then subjected to detailed descriptive analysis.
A total of 59 studies were selected for analysis; these focused on screening methods for congenital anomalies and compared their prevalence with regards to different systems. The most common screening techniques both prenatal and postnatal included antenatal ultrasound, fetal echocardiography, pulse oximetry, and clinical examination. The most common congenital abnormalities involved the central nervous system (neural tube defects) and musculoskeletal (clubfoot), followed by gastrointestinal (omphalocele and gastroschisis) and cardiovascular (structural heart defect). Overall, different systems had varying prevalences of different birth defects, ranging from 0.28 to 8.5%. In contrast, the prevalence of musculoskeletal system disorders varied from 1.01% to 3.96%, in the cardiovascular system from 0.57% to 10.4%, and in the urogenital group from 0.83% to 5.9%.
The review highlights the lack of screening programs and studies, especially in the primary and secondary care settings in LMICs, and limited studies do indicate a high burden of various congenital anomalies. There is a need for guidelines and programs in global maternal and child health programs to include timely screening and management of common birth defects in LMICs.
Congenital anomalies are one of the major causes of the global burden of diseases, and low- and middle-income countries (LMICs) are disproportionately affected. This review assesses the prenatal and postnatal screening methods and compares the prevalence of major congenital anomalies in LMICs.
We conducted a systematic search in MEDLINE/PubMed, CINAHL, Cochrane databases of systematic reviews, clinical trials.gov for relevant studies using Medical Subject Headings and keywords. We categorized the studies into different systems and screening methods depending on the time the tests were conducted (prenatal or postnatal). The studies were then subjected to detailed descriptive analysis.
A total of 59 studies were selected for analysis; these focused on screening methods for congenital anomalies and compared their prevalence with regards to different systems. The most common screening techniques both prenatal and postnatal included antenatal ultrasound, fetal echocardiography, pulse oximetry, and clinical examination. The most common congenital abnormalities involved the central nervous system (neural tube defects) and musculoskeletal (clubfoot), followed by gastrointestinal (omphalocele and gastroschisis) and cardiovascular (structural heart defect). Overall, different systems had varying prevalences of different birth defects, ranging from 0.28 to 8.5%. In contrast, the prevalence of musculoskeletal system disorders varied from 1.01% to 3.96%, in the cardiovascular system from 0.57% to 10.4%, and in the urogenital group from 0.83% to 5.9%.
The review highlights the lack of screening programs and studies, especially in the primary and secondary care settings in LMICs, and limited studies do indicate a high burden of various congenital anomalies. There is a need for guidelines and programs in global maternal and child health programs to include timely screening and management of common birth defects in LMICs.
先天性异常是全球疾病负担的主要原因之一,低收入和中等收入国家(LMICs)受到的影响尤为严重。本综述评估了产前和产后筛查方法,并比较了LMICs中主要先天性异常的患病率。
我们在MEDLINE/PubMed、CINAHL、Cochrane系统评价数据库、clinicaltrials.gov中进行了系统检索,使用医学主题词和关键词查找相关研究。我们根据检测时间(产前或产后)将研究分为不同系统和筛查方法。然后对这些研究进行详细的描述性分析。
共选择59项研究进行分析;这些研究聚焦于先天性异常的筛查方法,并比较了不同系统中的患病率。产前和产后最常见的筛查技术包括产前超声、胎儿超声心动图、脉搏血氧饱和度测定和临床检查。最常见的先天性异常涉及中枢神经系统(神经管缺陷)和肌肉骨骼系统(马蹄内翻足),其次是胃肠道(脐膨出和腹裂)和心血管系统(结构性心脏缺陷)。总体而言,不同系统中不同出生缺陷的患病率各不相同,范围从0.28%到8.5%。相比之下,肌肉骨骼系统疾病的患病率在1.01%至3.96%之间,心血管系统在0.57%至10.4%之间,泌尿生殖系统在0.83%至5.9%之间。
该综述强调了筛查项目和研究的缺乏,尤其是在LMICs的初级和二级保健机构中,而且有限的研究确实表明各种先天性异常的负担很重。全球母婴健康项目需要制定指南和项目,以便及时筛查和管理LMICs中常见的出生缺陷。
先天性异常是全球疾病负担的主要原因之一,低收入和中等收入国家(LMICs)受到的影响尤为严重。本综述评估了产前和产后筛查方法,并比较了LMICs中主要先天性异常的患病率。
我们在MEDLINE/PubMed、CINAHL、Cochrane系统评价数据库、clinicaltrials.gov中进行了系统检索,使用医学主题词和关键词查找相关研究。我们根据检测时间(产前或产后)将研究分为不同系统和筛查方法。然后对这些研究进行详细的描述性分析。
共选择59项研究进行分析;这些研究聚焦于先天性异常的筛查方法,并比较了不同系统中的患病率。产前和产后最常见的筛查技术包括产前超声、胎儿超声心动图、脉搏血氧饱和度测定和临床检查。最常见的先天性异常涉及中枢神经系统(神经管缺陷)和肌肉骨骼系统(马蹄内翻足),其次是胃肠道(脐膨出和腹裂)和心血管系统(结构性心脏缺陷)。总体而言,不同系统中不同出生缺陷的患病率各不相同,范围从0.28%到8.5%。相比之下,肌肉骨骼系统疾病的患病率在1.01%至3.96%之间,心血管系统在0.57%至10.4%之间,泌尿生殖系统在0.83%至5.9%之间。
该综述强调了筛查项目和研究的缺乏,尤其是在LMICs的初级和二级保健机构中,而且有限的研究确实表明各种先天性异常的负担很重。全球母婴健康项目需要制定指南和项目,以便及时筛查和管理LMICs中常见的出生缺陷。