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September 18, 2026Journal of the American College of CardiologyOpen Access

Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus

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Key result

Fetal CHD diagnosis reveals a distinct anomaly spectrum and more chromosomal abnormalities versus live births.

  • n=1,006

Why the study?

Knowledge and expertise in the diagnosis, management, and natural history of fetal congenital heart disease are increasingly demanded by obstetricians and parents, necessitating analysis of a large series to aid pediatric cardiologists.

Population

1,006 consecutive fetuses with prospectively diagnosed congenital heart disease

Comparison

Spectrum of fetal cardiac anomalies compared with that in infants

Design

Observational review of prospectively diagnosed cases since 1980

Authors

LALindsey D. AllanRoyal Surrey NHS Foundation TrustGSGurleen SharlandKing's College LondonAMA. MilburnGuy's Hospital

Discussion

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Overview

Observational study reveals high diagnostic accuracy and distinct defect spectrums in fetuses with congenital heart disease, indicating significant impacts on postnatal presentation.

Key Points

  • To describe the disease spectrum, diagnostic accuracy, chromosomal associations, and pregnancy outcomes in a large prospective series of fetal congenital heart disease.
  • Reviewed the clinical records of 1,006 consecutive fetuses prospectively diagnosed with congenital heart disease since 1980.
  • Assessed referral indications, diagnostic accuracy, fetal karyotypes, and pregnancy outcomes, categorizing defects and comparing them against postnatally diagnosed infant cohorts.
  • Most fetal cardiac anomalies were initially identified during obstetric ultrasonography, presenting a distribution of structural defects distinct from liveborn infant populations.
  • Chromosomal abnormalities were observed more frequently in fetuses than in liveborn cohorts.
  • Diagnostic accuracy was high, while overall survival after diagnosis remained low due to lesion complexity and elective pregnancy interruptions.

Study Design

Type

Observational (n=1,006)

PICO

P
Population
1,006 fetuses with a prospective diagnosis of congenital heart disease, evaluated for disease spectrum, karyotype, and pregnancy outcome.
E
Exposure / Comparator
Fetal congenital heart disease vs Infants with congenital heart disease
O
Primary Outcome
Spectrum of disease, accuracy of diagnosis, fetal karyotype, and pregnancy outcome

Cite This Study

Allan et al. (1994) conducted an observational in Fetal congenital heart disease (n=1,006). Fetal congenital heart disease vs. Infants with congenital heart disease was evaluated on Spectrum of disease, accuracy of diagnosis, fetal karyotype, and pregnancy outcome. Prospective diagnosis of 1,006 fetuses with congenital heart disease revealed a different spectrum of anomalies and higher frequency of chromosomal abnormalities compared to live births.

synapsesocial.com/papers/6aad01570c7bbc3e61ee9e4ehttps://doi.org/10.1016/0735-1097(94)90391-3
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Prenatal Diagnosis of Fetal Polycystic Kidney by Ultrasound1970 · 106 citations
  2. 2Multiscan Echocardiography1973 · 41 citations
  3. 3Effect of Prenatal Ultrasound Screening on Perinatal Outcome1993 · 605 citations
  4. 4Echocardiographic Studies of the Human Fetus: Prenatal Diagnosis of Congenital Heart Disease and Cardiac Dysrhythmias1980 · 283 citations
  5. 5Screening for congenital heart disease prenatally. Results of a 2½‐year study in the South East Thames Region1992 · 209 citations