Active Malformations Surveillance Program, Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Medical Genetics Unit, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
Birth Defects Res. 2018 Jan;110(2):148-156. doi: 10.1002/bdr2.1156.
Malformations surveillance programs have been carried out in consecutive populations of newborn infants at single hospitals, as well as in several hospitals in defined populations. A surveillance program begins with the review of the findings recorded by the examining pediatrician in each infant's medical record. The results of diagnostic tests, consultations, and imaging studies are obtained, also, from that infant's medical record. Some malformations surveillance programs identify additional malformations over several months, as the infants have hospitalizations and additional diagnostic testing.
289,365 infants (liveborn, stillborn, and fetuses in pregnancies terminated because of anomalies) were surveyed from 1972 to 2012 at an urban maternity center in Boston to identify each infant with one or more malformations. Each mother was interviewed to obtain demographic characteristics, results of prenatal testing, family history, and information about exposures in pregnancies. Specific diagnoses were established by the study geneticists.
7,020 (2.4%) of the 289,365 infants surveyed had one or more malformations. The etiologies identified included chromosome abnormalities, phenotypes attributed to dominant or recessive autosomal or X-linked mutations, vascular disruption, environmental factors, and complications of twinning.
The surveillance of a large consecutive population of newborn infants, stillbirths, and aborted fetuses can identify with high reliability all infants with one or more malformations. This process of ascertainment of affected newborns can be used to improve genetic counseling, identify "new" phenotypes, and serve as a system for testing new technologies to establish more causes of congenital malformations.
畸形监测计划已在单家医院的连续新生儿人群中以及在特定人群中的多家医院中进行。监测计划始于审查每位婴儿病历中检查儿科医生记录的发现。还从该婴儿的病历中获得了诊断测试、咨询和影像学研究的结果。一些畸形监测计划在几个月内发现了其他畸形，因为婴儿有住院和额外的诊断测试。
1972 年至 2012 年，在波士顿的一家城市妇产中心对 289365 名（活产、死产和因异常而终止妊娠的胎儿）婴儿进行了调查，以确定每个婴儿是否有一个或多个畸形。对每位母亲进行了访谈，以获取人口统计学特征、产前测试结果、家族史以及妊娠期间暴露的信息。研究遗传学家确定了具体的诊断。
在接受调查的 289365 名婴儿中，有 7020 名（2.4%）有一个或多个畸形。确定的病因包括染色体异常、归因于常染色体或 X 连锁显性或隐性突变的表型、血管发育障碍、环境因素以及孪生并发症。
对大量连续的新生儿、死产和流产胎儿进行监测，可以高度可靠地识别出所有有一个或多个畸形的婴儿。这种确定受影响新生儿的方法可用于改善遗传咨询、识别“新”表型，并作为测试新技术以确定更多先天性畸形原因的系统。
