Research Progress on Screening and Risk Factors of Congenital Heart Disease in Newborns

Q: What is the clinical evidence from this study?

Study design: Review. Population: Congenital heart disease (CHD) in newborns. Intervention: Multi-indicator noninvasive CHD screening (cardiac auscultation, percutaneous pulse oximetry [POX], peripheral perfusion index [PPI], biomarkers, and machine learning models) and genetic/perinatal risk factor identification vs. Standard dual-index screening (cardiac auscultation plus percutaneous pulse oximetry [POX]) or single-index screening. Primary outcome: Detection and early diagnosis of congenital heart disease (CHD) and critical CHD (CCHD) in newborns.

Q: What does this research mean for the field?

Combining the peripheral perfusion index with pulse oximetry and cardiac auscultation improves the detection of newborn congenital heart disease, particularly for left-sided obstructive lesions. Novelty: ClaimNovelty.SYNTHESIS. Consensus alignment: ConsensusAlignment.NEUTRAL.

柯鑫 睢

doi:10.12677/acm.2026.16113592

January 1, 2026Advances in Clinical MedicineOpen Access

Research Progress on Screening and Risk Factors of Congenital Heart Disease in Newborns

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Key result

Adding perfusion index to pulse oximetry and auscultation yields ~82% sensitivity for newborn CHD.

Why the study?

The dual-index screening method combining cardiac auscultation and percutaneous pulse oximetry for neonatal congenital heart disease is simple and feasible, but it carries a risk of missed diagnosis for lesions such as acyanotic left heart obstruction.

Does integrating novel non-invasive hemodynamic indicators (such as peripheral perfusion index) and genetic/perinatal risk stratification improve the early detection of neonatal congenital heart disease compared to standard dual-index screening?

Key Points

Summarize advances in non-invasive screening indicators and evaluate genetic and perinatal risk factors associated with congenital heart disease in newborns.
Synthesized literature on neonatal congenital heart disease screening protocols, including cardiac auscultation, pulse oximetry, and perfusion indices.
Reviewed genetic and perinatal factors comprising chromosomal abnormalities, copy number variations, single-gene variants, and maternal environmental exposures.
Dual-index screening combining cardiac auscultation with pulse oximetry yielded a sensitivity of 93.2% (95% CI 87.9–96.2) for congenital heart disease and 90.2% (95% CI 86.4–93.0) for severe congenital heart disease.
Combining pulse oximetry with peripheral perfusion index achieved a pooled sensitivity of 0.82 (95% CI 0.53–0.95), a pooled specificity of 0.97 (95% CI 0.57–1.00), and an area under the curve of 0.92 (95% CI 0.89–0.94).
Perinatal risk factors included maternal smoking (OR 1.16, 95% CI 1.07–1.25) and conception via assisted reproductive technology (OR 1.21, 95% CI 1.10–1.34), whereas maternal folic acid supplementation was protective (OR 0.82, 95% CI 0.72–0.94).

Structured PICO

Does integrating novel non-invasive hemodynamic indicators (such as peripheral perfusion index) and genetic/perinatal risk stratification improve the early detection of neonatal congenital heart disease compared to standard dual-index screening?

P

Population

Live newborns undergoing screening for congenital heart disease (CHD), which has an estimated prevalence of 8.98 per 1,000 live births in China.

I

Intervention

Non-invasive screening indicators including dual-index screening (cardiac auscultation + percutaneous pulse oximetry [POX] at 6-72 hours after birth), peripheral perfusion index (PPI), pleth variability index (PVI), dried blood spot biomarkers (NT-proBNP and IL-1RL1), and machine learning multi-parameter models, combined with genetic and perinatal risk factor assessment.

C

Comparator

Standard clinical assessment alone, pulse oximetry (POX) alone, or current standard dual-index screening (cardiac auscultation + POX).

O

Outcome

Diagnostic accuracy (sensitivity, specificity, false-positive rate, area under the curve) for detecting congenital heart disease (CHD) and critical CHD (CCHD), particularly acyanotic left heart obstructive lesions, as well as odds ratios for genetic and perinatal risk factors.

Integrating peripheral perfusion index (PPI), biomarkers, and maternal-fetal risk stratification with China's standard 'auscultation + pulse oximetry' screening can help address missed diagnoses of acyanotic left heart obstructive congenital heart defects in newborns.

Limitations

The positive cutoff value for peripheral perfusion index (PPI) has not yet been validated in multicenter, large-sample studies.
Most existing studies on multi-indicator screening have relatively small sample sizes, making it difficult to accurately evaluate the true detection efficacy of PPI for left heart obstructive CHD.
There is a general lack of systematic long-term follow-up for screen-negative cases to determine true false-negative rates and long-term outcomes.
Lack of standardized, multicenter validated cutoff values for peripheral perfusion index (PPI).
Small sample sizes in most current multi-indicator screening studies, limiting accurate evaluation of PPI for left heart obstructive CHD.
Lack of systematic long-term follow-up for screen-negative infants to assess true missed diagnosis rates and late-onset outcomes.
PPI measurements are easily influenced by ambient temperature, infant activity state, gestational age, and illness state.

Ask about this paper

Answers are grounded in this paper and cite their sources.

Implication

May support adding PPI to newborn CHD screening; leaves open prospective validation before practice change.

Abstract

Congenital heart disease (CHD) is one of the most common congenital malformations in live newborns, * 通讯作者。

Discussion

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Cite This Study

柯鑫睢 (2026) conducted a review in Congenital heart disease (CHD) in newborns. Multi-indicator noninvasive CHD screening (cardiac auscultation, percutaneous pulse oximetry [POX], peripheral perfusion index [PPI], biomarkers, and machine learning models) and genetic/perinatal risk factor identification vs. Standard dual-index screening (cardiac auscultation plus percutaneous pulse oximetry [POX]) or single-index screening was evaluated on Detection and early diagnosis of congenital heart disease (CHD) and critical CHD (CCHD) in newborns. Combining peripheral perfusion index (PPI) with pulse oximetry (POX) and cardiac auscultation improves newborn congenital heart disease detection.

synapsesocial.com/papers/6af0dba03c845ca7837cedc2 https://doi.org/10.12677/acm.2026.16113592

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Research Progress on Screening and Risk Factors of Congenital Heart Disease in Newborns

Key Points

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Research Progress on Screening and Risk Factors of Congenital Heart Disease in Newborns

Key Points

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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