El-Attar Lama Mohammed, Bahashwan Ahmed Abdelrahman, Bakhsh Ameen Deen, Moshrif Yasser Mohammed
Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Main Laboratory and Blood Bank, Madinah Maternity and Children Hospital (MMCH), Al-Madinah Al-Munawarah, Saudi Arabia.
Intractable Rare Dis Res. 2021 May;10(2):81-87. doi: 10.5582/irdr.2021.01016.
Congenital anomalies are a worldwide health problem that places a burden on the family and society. Chromosome abnormalities are one of the leading causes for congenital anomalies in newborns. Despite the remarkable development in cytogenetic services in the past years, still there are limited data from Middle East countries. The current study aimed to evaluate the prevalence and patterns of chromosomal aberrations in newborns admitted to the neonatal intensive care unit (NICU) with major congenital anomalies at Medina province in the western region of Saudi Arabia. Out of 2,541 live births, 150 newborns were selected based on the presence of major birth defects. Demographic and clinical data were collected from hospital medical records and statistically analyzed. The prevalence of major congenital anomalies was 10.7/1,000 live births (95% CI: 9.076- 12.583). The most common congenital anomalies in descending order were congenital heart disease, musculoskeletal and chromosome abnormalities. The birth prevalence of chromosome abnormalities was 4.22/1,000 live births (95% CI: 3.211-5.441). The most common chromosome abnormality was Down syndrome-nondisjunction type (66%). Advanced parental age was strongly associated with chromosome aberrations ( < 0.001) while consanguinity was evident in cases with normal karyotype ( < 0.001). High birth prevalence of chromosome abnormalities in newborns with congenital anomalies in Al Madinah was evident and advanced parental age is a potential risk factor. A local registry system for congenital anomalies is highly recommended to provide proper health services to high risk families.
先天性异常是一个全球性的健康问题，给家庭和社会带来负担。染色体异常是新生儿先天性异常的主要原因之一。尽管过去几年细胞遗传学服务有了显著发展，但中东国家的数据仍然有限。本研究旨在评估沙特阿拉伯西部地区麦地那省新生儿重症监护病房（NICU）收治的患有主要先天性异常的新生儿中染色体畸变的患病率和模式。在2541例活产中，根据主要出生缺陷的存在选择了150例新生儿。从医院病历中收集人口统计学和临床数据并进行统计分析。主要先天性异常的患病率为10.7/1000活产（95%CI：9.076 - 12.583）。最常见的先天性异常按降序排列为先天性心脏病、肌肉骨骼和染色体异常。染色体异常的出生患病率为4.22/1000活产（95%CI：3.211 - 5.441）。最常见的染色体异常是唐氏综合征 - 非整倍体型（66%）。父母年龄较大与染色体畸变密切相关（P < 0.001），而在核型正常的病例中近亲结婚现象明显（P < 0.001）。麦地那先天性异常新生儿中染色体异常的高出生患病率明显，父母年龄较大是一个潜在风险因素。强烈建议建立先天性异常的地方登记系统，以便为高危家庭提供适当的医疗服务。
