El Janahi Sara, Filali Mounir, Boudar Zakia, Akhattab Amina, El Jaoudi Rachid, Al Idrissi Najib, Dini Nouzha, Nejjari Chakib, Yahyaoui Raquel, Lloyd-Puryear Michele A, Ghazal Hassan
Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.
G Lab Laboratory, Casablanca 20360, Morocco.
Int J Neonatal Screen. 2024 Dec 4;10(4):80. doi: 10.3390/ijns10040080.
Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco. This study aimed to demonstrate the feasibility of integrating NBS into a diagnostic laboratory for routine analysis. Six primary severe conditions were included: congenital hypothyroidism (CH), cystic fibrosis (CF), phenylketonuria (PKU), glucose-6-phosphate dehydrogenase deficiency (G6PD), congenital adrenal hyperplasia (CAH), and hemoglobinopathies.
A retrospective investigation was carried out to examine the outcomes of NBS in Casablanca, Morocco. A total of 5511 newborn blood samples were collected via heel-prick sampling and tested for the above disorders. Most of the samples were collected within the third and sixth days of birth. The dried blood spots were analyzed via a quantitative immunofluorescence technique and isoelectric focusing.
A total of 72 newborns had one of the six pathological conditions. The most prevalent disorders were hemoglobinopathies, which were identified in 47 newborns (0.9%), with 29 having HbC carrier status (0.5%), 15 having Hb S carrier status (0.3%), and 3 having an Hb Bart's carrier profile (0.05%). This was followed by G6PD deficiency, which was found to affect 16 newborns (0.32% of cases). CF was found in one case (0.02%), whereas five newborns (0.09%) tested positive for CAH. Additionally, two newborns (0.04%) tested positive for CH, and one newborn tested positive for PKU (0.02%).
Our findings underscore the importance and success of NBS programs in preventing morbidity and mortality and improving the quality of life of affected neonates. The significant gap in data and research on these disorders within the Moroccan population highlights the urgent need to integrate NBS into routine practice in diagnostic laboratories across Morocco. This integration is crucial for enhancing the health and well-being of Moroccan newborns.
新生儿筛查（NBS）是一项重要的公共卫生措施，用于早期发现特定疾病；此类筛查不仅可以预防代谢性疾病导致的残疾和死亡，还能预防内分泌、血液、免疫和心脏疾病导致的残疾和死亡。筛查影响新生儿健康的关键先天性疾病是一项巨大挑战，尤其是在摩洛哥等发展中国家，那里缺乏新生儿筛查项目基础设施。此外，摩洛哥的近亲结婚率很高。本研究旨在证明将新生儿筛查纳入诊断实验室进行常规分析的可行性。纳入了六种主要的严重疾病：先天性甲状腺功能减退症（CH）、囊性纤维化（CF）、苯丙酮尿症（PKU）、葡萄糖 - 6 - 磷酸脱氢酶缺乏症（G6PD）、先天性肾上腺皮质增生症（CAH）和血红蛋白病。
开展了一项回顾性调查，以检查摩洛哥卡萨布兰卡新生儿筛查的结果。通过足跟采血共采集了5511份新生儿血样，并对上述疾病进行检测。大多数样本在出生后的第三天至第六天采集。通过定量免疫荧光技术和等电聚焦分析干血斑。
共有72名新生儿患有六种病理状况中的一种。最常见的疾病是血红蛋白病，在47名新生儿中被确诊（0.9%），其中29名具有HbC携带状态（0.5%），15名具有Hb S携带状态（0.3%），3名具有Hb Bart's携带型（0.05%）。其次是G6PD缺乏症，发现有16名新生儿受影响（占病例的0.32%）。发现1例CF（0.02%），而5名新生儿（0.09%）CAH检测呈阳性。此外，2名新生儿（0.04%）CH检测呈阳性，1名新生儿PKU检测呈阳性（0.02%）。
我们的研究结果强调了新生儿筛查项目在预防发病和死亡以及改善受影响新生儿生活质量方面的重要性和成功。摩洛哥人群中关于这些疾病的数据和研究存在显著差距，凸显了将新生儿筛查纳入摩洛哥各地诊断实验室常规实践的迫切需求。这种整合对于提高摩洛哥新生儿的健康和福祉至关重要。
