Causes of Congenital Malformations
Causes of Congenital Malformations
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DOI：
10.1002/bdr2.1105
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发表时间：
2018-01-30
影响因子：
2.1
通讯作者：
Holmes, Lewis B.
中科院分区：
文献类型：
--
作者：
Toufaily, M. Hassan;Westgate, Marie-Noel;Holmes, Lewis B.
已经确定了许多不同的畸形原因。对连续出生人群的监测，包括死产和因胎儿异常而选择性终止妊娠，可以确定每个婴儿的畸形，并确定明显病因的频率。该报告是主动畸形监测项目头10年首次此类分析的续作（Nelson和Holmes，）。方法对波士顿布里格姆妇女医院（Brigham and Women’s Hospital） 41年间（1972-2012年）289365例新生儿进行畸形检查。通过对儿科医生和顾问的检查结果、对活产婴儿的诊断测试以及对选择性终止妊娠和死产胎儿的尸检，确定了这些异常。结果有一种或多种畸形的婴儿和胎儿共7020例（2.4%），其中显性病因占26.6%：孟德尔障碍，包括B型婴儿轴后多指畸形；染色体异常;血管中断;同卵双胞胎的并发症；还有环境因素。病因不明的畸形占更大的比例。结论虽然已经确定了几种畸形的原因，但仍有许多原因无法解释。在未来的监测项目中结合基因组测序和染色体微阵列分析，将显著增加归因于遗传机制的畸形数量。出生缺陷研究[j]， 2018。(c) 2018 Wiley期刊公司
BackgroundMany different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. This report is a sequel to the first such analysis in the first 10 years of this Active Malformations Surveillance Program (Nelson and Holmes, ).MethodsThe presence of malformations was determined among 289,365 births over 41 years (1972-2012) at the Brigham and Women's Hospital in Boston. The abnormalities were identified from the review of the examination findings of the pediatricians and consultants and diagnostic testing for the live-born infants and the autopsies of the fetuses in elective terminations and stillbirths.ResultsA total of 7020 (2.4%) infants and fetuses with one or more malformations were identified with these apparent etiologies in 26.6%: Mendelian disorders, including infants with postaxial polydactyly, type B; chromosome abnormalities; vascular disruption; complications of monozygous twinning; and environmental factors. The malformations of unknown etiology were a much larger group.ConclusionWhile several causes of malformations have been identified, many remain unexplained. Combining the ascertainment in a future surveillance programs with genome sequencing and chromosome microarray analysis will increase significantly the number of malformations attributed to genetic mechanisms. Birth Defects Research 110:87-91, 2018.(c) 2018 Wiley Periodicals, Inc.