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Newborn genetic screening is highly effective for high-risk infants: A single-centre study in China
Insights
Newborn genetic screening (NBGS) improves accuracy for high-risk infants by reducing false positives and increasing positive predictive value compared to traditional newborn screening (tNBS). This enhances early detection of genetic diseases in vulnerable newborns.
Area of Science:
- Medical Genetics
- Neonatal Care
- Public Health
Background:
- Newborn genetic screening (NBGS) shows promise for early detection of genetic diseases.
- Clinical effectiveness of NBGS in high-risk infant populations remains understudied.
- This study addresses the gap in understanding NBGS impact on high-risk newborns.
Purpose of the Study:
- To investigate the clinical effectiveness of NBGS in high-risk infants.
- To compare NBGS with traditional newborn screening (tNBS) in this population.
- To evaluate the impact of combined screening methods on diagnostic accuracy.
Main Methods:
- Screened 10,334 healthy newborns and 886 high-risk infants.
- Utilized both traditional newborn screening (tNBS) and newborn genetic screening (NBGS).
- Collected clinical data from electronic medical records for analysis.
Main Results:
- High-risk infants exhibited higher rates of eutocia and prematurity.
- Compared to tNBS in healthy newborns, tNBS in high-risk infants showed higher primary screening positive rates (3.84% vs 1.31%) and false positive rates (3.62% vs 1.18%).
- NBGS in high-risk infants significantly reduced the primary screening positive rate (0.54% vs 3.68%) and false positive rate (0.22% vs 3.47%), while increasing positive predictive value (60.00% vs 5.88%) compared to tNBS.
Conclusions:
- Combined newborn screening effectively reduces false positive rates in high-risk infants.
- NBGS improves the positive predictive value for high-risk infants.
- This approach enhances the accuracy of identifying genetic diseases in newborns.
Background:
Newborn genetic screening (NBGS) is promising for early detection of genetic diseases in newborns. However, little is known about its clinical effectiveness in special groups like high-risk infants. To address this gap, we aimed to investigate the impact of NBGS on high-risk infants.
Methods:
We screened 10 334 healthy newborns from the general maternity unit and 886 high-risk infants from the neonatal ward using both traditional newborn screening (tNBS) and NBGS, and collected clinical data from electronic medical records.
Results:
We found that high-risk infants had a higher proportion of eutocia (P < 0.01) and prematurity (P < 0.01). For high-risk infants vs healthy newborns screened by tNBS, the primary screening positive rate was 3.84% vs 1.31%, the false positive rate (FPR) was 3.62% vs 1.18% (P < 0.001), and the positive predictive value (PPV) was 5.88% vs 8.27%. For NBGS vs tNBS in high-risk infants, the primary screening positive rate was 0.54% vs 3.68%, the FPR was 0.22% vs 3.47%, and the PPV was 60.00% vs 5.88%.
Conclusions:
We found that combined newborn screening can effectively reduce the FPR caused by the high-risk symptoms and improve the PPV in high-risk infants, sufficient for more accurately showing the true status of the disease.
