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Limited surface examination to evaluate potential teratogens in a resource-limited setting
Lewis B Holmes1, Hanah Z Nasri1, Anne-Therese Hunt2
1Medical Genetics and Metabolism Unit, MassGeneral Hospital for Children, Boston, MA, USA.
Birth Defects Research
|March 29, 2021
Summary
A limited newborn surface examination detects most malformations. However, some internal anomalies and specific external conditions like polydactyly may be missed, slightly reducing the overall detected prevalence of congenital anomalies.
Area of Science:
- Neonatal care
- Public health
- Medical diagnostics
Background:
- Resource-limited settings pose challenges for comprehensive newborn examinations.
- Accurate identification of congenital malformations is crucial for early intervention and improved outcomes.
- Existing surveillance programs provide valuable data on malformation prevalence.
Purpose of the Study:
- To assess the efficacy of limited newborn surface examinations in identifying congenital malformations.
- To determine the prevalence of malformations detectable by surface examination in resource-limited settings.
- To identify malformations likely to be missed by a basic surface examination.
Main Methods:
- Analysis of a large-scale malformations surveillance program dataset (289,365 births).
- Estimation of malformation prevalence based on visible external anomalies.
- Exclusion of specific minor anomalies (e.g., postaxial polydactyly, type B) for a more focused prevalence rate relevant to resource-limited contexts.
Main Results:
- Congenital malformations were present in 2.05% of newborns surveyed.
- A limited surface examination could miss approximately 0.5% of all malformations, reducing the detected prevalence to 1.5%.
- Excluding common minor anomalies like polydactyly further reduced the expected prevalence to 1.3%.
Conclusions:
- Limited surface examinations are effective in detecting the majority of newborn malformations.
- Awareness of potential missed diagnoses is important for healthcare providers in resource-limited settings.
- Refining screening criteria can provide a more accurate prevalence of significant congenital anomalies.

