Sawardekar Kiran P
Department of Paediatrics, Nizwa Hospital, Nizwa, Sultanate of Oman.
J Paediatr Child Health. 2005 Jul;41(7):323-30. doi: 10.1111/j.1440-1754.2005.00625.x.
The objective of this study was to establish the profile of major congenital malformations at Nizwa Hospital, which is a major hospital in the Al-Dakhliya region of Oman.
All births with birthweight more than 500 g were prospectively studied from January 1993 through December 2002 for a period of 10 years. A congenital anomaly register was maintained in the special care baby unit (SCBU) and details of each case were recorded after parents' interviews, clinical evaluation and relevant radiological and laboratory investigations. The major malformations were classified as multiple or single-system abnormalities as well as genetic or non-genetic disorders.
Of the 21 988 births during the study period, 541 babies (24.6 per 1000 births) had major malformations. Of the 541 babies, 158 (29.2%) had multiple malformations and 335 (61.9%) had involvement of a single system. In 48 (8.9%) babies a complete evaluation was not possible. Of the cases with multiple abnormalities, 57 had recognized syndromes, of which 28 (49.1%) were autosomal recessive disorders. Seventy (12.9%) cases had chromosomal abnormalities. The most common systems involved in neonates with single-system malformations were the gastrointestinal system (100 cases), the central nervous system (79 cases) and the cardiovascular system (63 cases). Although the consanguinity rate of 53.1% among Omani births almost matched with the regional average of 52.7%, it was 76% among those with major malformations. Also, there was an increased clustering of multiple abnormalities and rare recessive disorders in cases with closely related parents and grandparents. The birth prevalence of major malformations was 14.6 per 1000 in non-Omani births as compared to 25.2 in Omani births (P < 0.05). Genetic factors could be implicated in 343 (63.4%) cases and 130 (37.9%) of these were potentially preventable.
Genetic disorders account for a significant proportion of congenital malformations in Oman.
本研究的目的是确定尼兹瓦医院（阿曼达赫利亚地区的一家主要医院）主要先天性畸形的概况。
对1993年1月至2002年12月期间出生体重超过500克的所有婴儿进行了为期10年的前瞻性研究。在特别护理婴儿病房（SCBU）建立了先天性异常登记册，并在与父母面谈、临床评估以及相关的放射学和实验室检查后记录每个病例的详细信息。主要畸形分为多系统或单系统异常以及遗传性或非遗传性疾病。
在研究期间的21988例出生中，541名婴儿（每1000例出生中有24.6例）患有主要畸形。在这541名婴儿中，158例（29.2%）有多系统畸形，335例（61.9%）有单系统受累。48例（8.9%）婴儿无法进行全面评估。在有多系统异常的病例中，57例有公认的综合征，其中28例（49.1%）为常染色体隐性疾病。70例（12.9%）有染色体异常。单系统畸形新生儿中最常受累的系统是胃肠道系统（100例）、中枢神经系统（79例）和心血管系统（63例）。尽管阿曼出生婴儿中的近亲结婚率为53.1%，几乎与该地区52.7%的平均水平相符，但在患有主要畸形的婴儿中，这一比例为76%。此外，父母和祖父母近亲的病例中，多系统异常和罕见隐性疾病的聚集性增加。非阿曼出生婴儿中主要畸形的出生患病率为每1000例中有14.6例，而阿曼出生婴儿中为25.2例（P<0.05）。343例（63.4%）病例可能与遗传因素有关，其中130例（37.9%）可能是可预防的。
在阿曼，遗传性疾病在先天性畸形中占很大比例。
