NATURAL-HISTORY OF TRISOMY-18 AND TRISOMY-13 .1. GROWTH, PHYSICAL ASSESSMENT, MEDICAL HISTORIES, SURVIVAL, AND RECURRENCE RISK
NATURAL-HISTORY OF TRISOMY-18 AND TRISOMY-13 .1. GROWTH, PHYSICAL ASSESSMENT, MEDICAL HISTORIES, SURVIVAL, AND RECURRENCE RISK
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DOI：
10.1002/ajmg.1320490204
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发表时间：
1994-01-15
期刊：
影响因子：
--
通讯作者：
CAREY, JC
中科院分区：
文献类型：
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作者：
BATY, BJ;BLACKBURN, BL;CAREY, JC
使用来自98个具有18三体指数病例的家庭和32个具有13三体指数病例的家庭的父母问卷和医疗记录的数据，调查了18三体和13三体的自然史。数据包括妊娠、分娩、存活、医疗并发症、免疫接种、生长、死亡原因、细胞遗传学和复发风险。18三体婴儿中有一半是剖腹产的。胎儿窘迫是一半的因素，也是三分之一剖腹产的唯一原因。剖腹产和臀位分娩的1分钟Apgar评分显著较低。与一般人群相比，胎龄较小的婴儿更多，但与一般人群不同，大多数低出生体重新生儿的胎龄较小。由于确定偏倚，这组儿童的生存率优于其他研究。在这两种情况下，所有年龄段的女孩都比男孩多，性别比例随着时间的推移而下降。提供了身长、体重、头围和体重与身高的生长曲线。长期生存似乎不是由于镶嵌。我们没有发现免疫接种引起的不良反应。在1岁时，每个存活儿童平均约接受2次手术。我们报告第二例成功的重大心脏手术的18三体儿童。近70%的死亡归因于心肺骤停。18三体或13三体的同胞复发风险为0.55%。(C)1994 Wiley-Liss，Inc.
The natural history of trisomy 18 and trisomy 13 was investigated using data derived from parent questionnaires and medical records from 98 families with an index case of trisomny 18 and 32 families with an index case of trisomy 13. Data are presented on pregnancy, delivery, survival, medical complications, immunizations, growth,cause of death, cytogenetics, and recurrence risk. Half of the trisomy 18 babies were delivered by C-section. Fetal distress was a factor in half, and the only reason in a third of C-section deliveries. One minute Apgar scores were significantly lower in C-section and breech deliveries. There were more small for gestational age babies than in the general population, but most of the low birth weight newborns were small for gestational age, unlike the general population. Survival in this group of children was better than in other studies due to ascertainment bias. There were more girls than boys at all ages for both conditions, and the sex ratio decreased with time. Growth curves for length, weight, head circumference, and weight vs height are provided. Long-term survival did not appear to be due to mosaicism. We found no adverse reactions attributable to immunizations. At age 1 year there was an average of approximately 2 operations per living child. We report the second case of successful major cardiac surgery in a trisomy 18 child. Almost 70% of deaths were attributed to cardiopulmonary arrest. The sibling recurrence risk for trisomy 18 or trisomy 13 was 0.55%. (C) 1994 Wiley-Liss, Inc.