Holmes Lewis B, Nasri Hanah Z, Hunt Anne-Therese, Zash Rebecca, Shapiro Roger L
Medical Genetics and Metabolism Unit, MassGeneral Hospital for Children, Boston, MA, USA.
Hunt Consulting Associates, Chapel Hill, NC, USA.
Birth Defects Res. 2021 May 15;113(9):702-707. doi: 10.1002/bdr2.1887. Epub 2021 Mar 28.
To determine the frequency of malformations that would be identified in the limited surface examination of a newborn by the delivering nurse midwife in a resource-limited setting.
The limited surface examination will identify visible external anomalies, but not abnormalities inside the mouth, most heart defects, undescended testes, inguinal hernias, hip dysplasia, peripheral vascular anomalies, and some internal anomalies. The findings in a malformations surveillance program, involving 289,365 births in Boston, have been used to establish the prevalence rate of malformations that would be identified and not identified. In African countries, the number of anomalies to be identified should also be reduced by excluding polydactyly, postaxial, type B, a common minor finding, from the list of potential malformations.
Of note, 2.05% (n = 5,941) of the 289,365 births surveyed had one or more malformations. The abnormalities that would have been missed, using surface exam alone, accounted for 0.5% of all of malformations identified and reduced the overall prevalence rate of malformations to 1.5%. In addition, excluding all infants with isolated postaxial polydactyly, type B reduced the expected prevalence rate of malformations to 1.3% in unexposed newborn infants.
A limited surface examination can detect the majority of malformations among newborn infants.
确定在资源有限的环境中，接生护士助产士对新生儿进行有限体表检查时可发现的畸形频率。
有限体表检查可识别可见的外部异常，但无法检测口腔内异常、大多数心脏缺陷、隐睾、腹股沟疝、髋关节发育不良、周围血管异常以及一些内部异常。一项涉及波士顿289,365例出生病例的畸形监测项目的结果，已被用于确定可识别和不可识别的畸形患病率。在非洲国家，通过将常见的轻微发现——轴后多指（B型）排除在潜在畸形列表之外，应识别的异常数量也应减少。
值得注意的是，在接受调查的289,365例出生病例中，2.05%（n = 5,941）有一个或多个畸形。仅通过体表检查会遗漏的异常占所有已识别畸形的0.5%，并将畸形的总体患病率降至1.5%。此外，排除所有孤立的轴后多指（B型）婴儿后，未暴露新生儿的预期畸形患病率降至1.3%。
有限的体表检查可检测出大多数新生儿畸形。
