THE PROFILE OF MAJOR CONGENITAL-ABNORMALITIES IN THE UNITED-ARAB-EMIRATES (UAE) POPULATION
THE PROFILE OF MAJOR CONGENITAL-ABNORMALITIES IN THE UNITED-ARAB-EMIRATES (UAE) POPULATION
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DOI：
10.1136/jmg.32.1.7
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发表时间：
1995-01-01
影响因子：
4
通讯作者：
VARGHESE, M
中科院分区：
文献类型：
--
作者：
ALGAZALI, LI;DAWODU, AH;VARGHESE, M
这项研究的目的是建立阿拉伯联合酋长国(阿联酋)人口中主要先天畸形的概况，因为阿联酋人口的血缘比例很高。对1992年1月至1994年1月在阿联酋A1Ain医疗区三家医院出生体重超过500g的新生儿进行了前瞻性研究。该地区约98%的新生儿是在这三家医院出生的。每个病例都记录了详细的家族史以及临床和相关的实验室检查。验尸是不允许的。主要畸形可分为多个或孤立的单系统畸形以及遗传性或非遗传性疾病。其中重大畸形173例(10.5/1000)，多发畸形90例(52.0%)，单系统畸形83例(47.97%)。在患有多种畸形的婴儿中，有43人有可识别的综合征，其中大多数是常染色体隐性遗传病，罕见综合征的频率很高。28例(31%)有染色体异常。患有孤立性单系统畸形的婴儿最常见的系统包括胃肠道(33例)、中枢神经系统(17例)和心血管(10例)。虽然近亲比率相似(57%比54%)，但研究组的近亲结婚频率(51%比30%)比一般人群的数字高得多。血缘关系在综合征患者中的比例最高，亲缘父母生出多个畸形的可能性高于单一单一系统异常，相对危险度为1.69(95%CL为1.27~2.24)。在173例重大畸形中，116例(67%)可能与遗传因素有关，49例(28%)是潜在的可预防的。研究表明，遗传疾病占阿联酋先天畸形的很大比例，因此，应将遗传服务作为预防保健方案的一部分提供。
The aim of this study was to establish the profile of major congenital malformations in the United Arab Emirates (UAE) population which has a high rate of consanguinity. All births with birth weight above 500 g in the three hospitals in the A1 Ain Medical District of UAE were prospectively studied from January 1992 to January 1994. About 98% of the births in the district occur in these three hospitals. Detailed family history and clinical and relevant laboratory investigations were recorded in each case. Necropsy was not permitted. The major malformations were classified as multiple or isolated single system abnormalities as well as genetic or non-genetic disorders. Of the 16 419 births which occurred during the two year period, 173 (10.5/1000 births) had major malformations, 90 (52%) had multiple malformations, and 83 (47.97%) had involvement of a single system. Of the infants with multiple malformations, 43 had recognised syndromes, most of which are autosomal recessive disorders with a high frequency of rare syndromes. Twenty eight (31%) had chromosomal abnormalities. The most common systems involved in infants with isolated single system malformations include gastrointestinal (33), central nervous system (17), and cardiovascular (10). While the consanguinity rate was similar (57% v 54%), the frequency of first cousin marriages was much higher (51% v 30%) in the study group compared with the figures for the general population. The consanguinity rate was highest among the syndrome eases, and related parents were more likely to have infants with multiple malformations than an isolated single system abnormality with a relative risk of 1.69 (95% CL 1.27-2.24). Genetic factors could be implicated in 116 (67%) of the 173 cases of major malformations and 49 (28%) were potentially preventable. The study suggests that genetic disorders account for a significant proportion of congenital malformations in the UAE and, thus, a genetic service should be provided as part of the preventive care programme.