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Malformations Surveillance: Comparison between Findings at Birth and Age 1 Year
Emma G Thomas1,2, Cathleen Higgins3, Marie-Noel Westgate1,2
1Active Malformations Surveillance Program, Department of Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Insights
Congenital anomaly surveillance missed 3.5% of newborn malformations at birth. Continued follow-up in the first year is crucial for accurate detection of birth defects.
Area of Science:
- Medical Surveillance
- Neonatal Care
- Public Health
Background:
- Congenital anomalies affect newborn infants, necessitating robust surveillance programs.
- Accurate prevalence data for birth defects is essential for public health initiatives.
- Comparing early detection with later findings can reveal surveillance system limitations.
Purpose of the Study:
- To evaluate the effectiveness of newborn malformation surveillance programs.
- To identify congenital anomalies missed at birth but detected later in infancy.
- To improve the accuracy and completeness of birth defect monitoring.
Main Methods:
- Compared malformations identified at birth by Brigham and Women's Hospital (BWH) with those detected up to age 1 year by the Massachusetts Birth Defects Monitoring Program.
- Analyzed data from the years 2000 and 2005 for a cohort of newborn infants.
- Investigated reasons for missed or delayed detection of congenital anomalies.
Main Results:
- 3.5% of malformed infants were missed at birth by the BWH Surveillance Program.
- An additional 2.3% of malformed infants had delayed detection within the first year.
- Mild heart defects, such as atrial septal defects, were commonly detected later.
Conclusions:
- Newborn malformation surveillance requires continued follow-up beyond the initial examination.
- Physician documentation and review of findings are critical for accurate surveillance.
- Enhanced follow-up is particularly important for small, premature infants to detect all congenital anomalies.
Background:
Malformations surveillance programs among newborn infants are used to determine the prevalence of congenital anomalies. A comparison in the same group of infants between the malformations detected at birth and those detected at 1 year of age will identify errors in the surveillance process and, also, the abnormalities more likely not to be detected at birth, but later in the first year of life.
Methods:
The malformations identified at birth by Brigham and Women's Hospital (BWH) in the years 2000 and 2005 have been compared with the abnormalities detected in the same infants up to age 1 year by the Massachusetts Birth Defects Monitoring Program.
Results:
The Massachusetts Birth Defects Monitoring Program identified 557 malformed infants in 2000 and 415 in 2005. Of these, 34 (3.5%) of the malformed infants were missed at birth by BWH Surveillance Program. An additional 22 (2.3%) malformed infants had delayed detection, as they were identified later in the first year. The reasons were the fact that: (1) the Surveillance staff reviewed the physicians' recorded findings only on the first day of life; (2) failure of the examining pediatrician to record the presence of a malformation in her/his notes. The most common abnormalities with delayed detection were mild heart defects, such as atrial septal defects.
Conclusion:
These findings emphasize the importance in a newborn malformations surveillance program of continued follow up in the first days of life, especially in small, premature infants. Birth Defects Research 110:142-147, 2018. © 2017 Wiley Periodicals, Inc.
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