Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston.
Medical Genetics Unit, MassGeneral Hospital for Children, Boston.
Birth Defects Res. 2018 Jan;110(2):87-91. doi: 10.1002/bdr2.1105.
Many 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, ).
The 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.
A 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.
While 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.© 2018 Wiley Periodicals, Inc.
许多不同的畸形原因已经确定。连续人群出生的监测，包括因胎儿异常而进行的死产和选择性终止妊娠，可以识别出每个有畸形的婴儿，并确定明显病因的频率。本报告是该主动畸形监测计划（Nelson 和 Holmes，）头 10 年首次进行此类分析的后续报告。
在波士顿布莱根妇女医院的 41 年间（1972-2012 年），对 289365 例活产儿进行了畸形检测。通过儿科医生和顾问的检查结果回顾以及对活产儿的诊断性检测和选择性终止妊娠和死产儿的尸检，确定了异常情况。
共发现 7020 名（2.4%）有一个或多个畸形的婴儿和胎儿，这些明显病因占 26.6%：孟德尔疾病，包括后轴多指症 B 型婴儿；染色体异常；血管中断；单卵双胞胎并发症；和环境因素。病因不明的畸形是一个更大的群体。
虽然已经确定了一些畸形的原因，但仍有许多原因尚未解释。在未来的监测计划中结合确定方法、基因组测序和染色体微阵列分析，将大大增加归因于遗传机制的畸形数量。出生缺陷研究 110:87-91, 2018.© 2018 Wiley Periodicals, Inc.
