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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Chromosomal study in newborn infants with congenital anomalies in Assiut University hospital: Cross-sectional study
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Chromosomal study in newborn infants with congenital anomalies in Assiut University hospital: Cross-sectional study

机译：Assiut大学医院先天性异常婴儿的染色体研究：横断面研究

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In 40–60% of congenital malformations, the cause is unknown. Genetic factors account for approximately 15%; environmental factors produce approximately 10%; a combination of genetic and environmental influences produces 20–25%. The study aims to document prevalence and patterns of congenital malformations detected at birth in Assiut University hospital and clarify underlying chromosomal abnormalities of such malformations. Also possible predisposing factors will be studied. Newborns with apparent congenital anomalies were selected from 5000 newborn infants delivered consecutively at the department of Obstetrics and Gynecology within 7months. Full maternal history, family history, perinatal history, pedigree construction as well as clinical examinations and investigations including karyotype were done. Congenital anomalies were found in 103 cases with a prevalence of 2.06% with male to female ratio of 1.7:1. Skeletal system anomalies had the highest frequency (37.9%), followed in descending order by chromosomal abnormalities (27.2%), circulatory system anomalies (22.3%), central nervous system (CNS) anomalies (19.4%), genital organs anomalies (16.5%), gastrointestinal tract (GIT) anomalies (14.6%), eye and ear anomalies (8.7%), and lastly urinary system and others anomalies in 3.9% each. Breech presentation, perinatal asphyxia, incubator admission and the need for resuscitation were significantly associated with the presence of congenital anomalies. Higher prevalence of congenital anomalies was observed in neonates of grand multiparous women, diabetic mothers delivery by CS, cases with oligohydramnios and with positive consanguinity. Chromosomal abnormalities were found in 28 cases (27.18% of malformed cases) (5.6/1000). Numerical abnormalities were found in 22 cases (21.35%) (4.4/1000), Down syndrome in 16 cases, Edward syndrome in two cases, Patau syndrome in one case and Turner syndrome (monosomy) in three cases. Structural abnormalities were present in six cases (5.83%) (1.2/1000), Down syndrome in two cases, Turner syndrome in two cases, balanced translocation [(12;13)(q15;q34)] with dysmorphic features and undescended testis in one case and deletion 9(q11;q31) with disorder of sex development in one case. To conclude karyotype should not be done routinely for all malformed cases as many of them are due to genetic syndromes. So, it is more useful to consult expert dysmorphologists for proper syndrome identification and for the decision to use more recent molecular techniques for diagnosis.
机译：在40％至60％的先天性畸形中，原因是未知的。遗传因素约占15％;环境因素产生约10％;遗传和环境影响的结合产生20–25％。这项研究旨在记录在阿修特大学医院出生时发现的先天性畸形的患病率和类型，并阐明此类畸形的潜在染色体异常。也将研究可能的诱发因素。从7个月内从妇产科连续分娩的5000例新生儿中选出具有明显先天性异常的新生儿。进行了完整的孕产史，家族史，围产期史，家谱构建以及包括核型在内的临床检查和调查。 103例先天性异常，患病率为2.06％，男女之比为1.7：1。骨骼系统异常发生率最高（37.9％），其次是染色体异常（27.2％），循环系统异常（22.3％），中枢神经系统（CNS）异常（19.4％），生殖器官异常（16.5％）。 ），胃肠道（GIT）异常（14.6％），眼耳异常（8.7％），最后是泌尿系统异常和其他异常，分别为3.9％。臀位表现，围产期窒息，保育箱的进入和复苏的必要性与先天性异常的存在密切相关。先天性异常的患病率较高，在多产大产妇的新生儿，CS糖尿病母亲分娩，羊水过少和血友病阳性的病例中。发现染色体异常28例（畸形病例的27.18％）（5.6 / 1000）。发现数字异常22例（21.35％）（4.4 / 1000），唐氏综合征16例，爱德华综合征2例，帕陶综合征1例，特纳综合征（单体性）3例。结构异常出现6例（5.83％）（1.2 / 1000），唐氏综合征2例，特纳综合征2例，平衡易位[（12; 13）（q15; q34）]，具有畸形特征且睾丸未降1例，删除9（q11; q31）并伴有性发育障碍。总而言之，不应该对所有畸形病例进行常规核型检查，因为其中许多病例是由于遗传综合症引起的。因此，咨询适当的畸形专家以进行正确的综合症识别并决定使用最新的分子技术进行诊断更为有用。

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