Seidahmed Mohammed Z, Abdelbasit Omer B, Shaheed Meeralebbae M, Alhussein Khalid A, Miqdad Abeer M, Samadi Abdulmohsen S, Khalil Mohammed I, Al-Mardawi Elham, Salih Mustafa A
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail:
Saudi Med J. 2014 Dec;35 Suppl 1(Suppl 1):S49-56.
To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes.
We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data.
Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies.
There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.
确定由遗传、染色体和综合征性病因导致的神经管缺陷（NTDs）的发病率，并描述其各种形式。
我们对沙特阿拉伯利雅得安全部队医院14年（1996 - 2009年）期间收治的患有NTDs的新生儿及其母亲的病历数据进行了回顾性分析。这些病例由围产期专家、新生儿专家、遗传学家、放射科医生和神经科医生确诊。通过医学文献数据库检索对相关文献进行了综述。仅纳入活产婴儿。在收集数据之前获得了安全部队医院教育委员会的许可。
在此期间收治的103例患有NTDs的婴儿中，20例（19.4%）被发现存在潜在的遗传综合征性、染色体和/或其他异常。有5例梅克尔 - 格鲁伯综合征、2例儒贝尔综合征、1例瓦登伯革综合征、1例沃克 - 沃尔伯格综合征、2例染色体疾病、2例尾部退化、1例羊膜带破裂序列、1例合并脐膨出、1例合并膈疝以及4例合并多种先天性异常。
由于沙特阿拉伯人群近亲结婚率高，NTDs潜在的遗传综合征性和/或染色体病因发生率较高。识别这种关联可为家庭提供更准确的遗传咨询，包括植入前基因诊断或对与致死性疾病相关的妊娠进行早期终止。
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