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A population-based study of the prenatal diagnosis of congenital malformation over 16 years
1Neonatal Unit, Sunderland Royal Hospital, Sunderland, UK.
Insights
Prenatal diagnosis accuracy for congenital malformations has improved significantly. However, diagnostic accuracy varies by condition and may not meet public expectations.
Area of Science:
- Medical Diagnostics
- Prenatal Screening
- Congenital Malformations
Background:
- Prenatal diagnosis of congenital malformations is crucial for informed decision-making.
- Assessing the accuracy and trends of these diagnoses is essential for healthcare quality.
Purpose of the Study:
- To evaluate the trends in accuracy of prenatal diagnosis for congenital malformations.
- To analyze the diagnostic performance for various structural anomalies over time.
Main Methods:
- A prospective, population-based study conducted in Northern England from 1985 to 2000.
- Inclusion of all congenital anomalies diagnosed antenatally or by one year of age in over 573,000 births.
- Analysis focused on the proportion of correctly made, wrongly made, or missed prenatal diagnoses.
Main Results:
- Substantial improvement in overall prenatal diagnostic accuracy was observed.
- Diagnostic accuracy exceeded 90% for anencephaly and abdominal wall defects.
- Accuracy remained below 70% for diaphragmatic hernia, bladder outlet obstruction, and major skeletal defects; pregnancy terminations increased.
Conclusions:
- Prenatal diagnostic accuracy has improved but varies significantly across different congenital malformations.
- Current accuracy levels may be lower than perceived by clinicians for certain conditions.
- Public expectations regarding prenatal diagnostic accuracy may not be consistently met.
Objective:
A population-based study of the trends in accuracy over time of prenatal diagnosis of congenital malformations.
Design:
A prospective study of all congenital malformations.
Setting:
The counties of Cleveland, Durham, North Cumbria, Northumberland and Tyne and Wear.
Population:
All 573,471 babies born to residents at 24 weeks of gestation or more, and all terminations for fetal abnormality, occurring between 1985 and 2000.
Methods:
An analysis of all congenital anomalies whether antenatally detected or diagnosed before one year of age to examine the accuracy of prenatal diagnosis and its trends over four consecutive four-year periods.
Main Outcome Measures:
The proportion of cases where a diagnosis before birth was correctly made, wrongly made or not made in a range of important structural malformations.
Results:
There was a substantial improvement in the accuracy of prenatal diagnosis of all conditions reported here. However, the extent to which different conditions were diagnosed varied widely. It now exceeds 90% for anencephaly and for abdominal wall defects but is still less than 70% for diaphragmatic hernia, bladder outlet obstruction and many major skeletal defects. Termination of pregnancy for fetal malformation rose from 23 to 47 per 10,000 registrable births.
Conclusion:
This large prospective study provides data on the accuracy of prenatal diagnosis of a number of malformations in a geographically defined population under service conditions. Diagnostic accuracy has improved over time but may well be lower than many clinicians assume for some important conditions and may not match public expectations.
