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Evidence summaries

First-Trimester Ultrasound Examination for Detecting Major Congenital Heart Disease

A positive first-trimester ultrasound scan appears to be accurate in ruling in the diagnosis of major congenital heart disease but evidence of a negative scan in ruling out the diagnosis is inconclusive. Level of evidence: "B"

A systematic review 1 including 10 studies with a total of 1 243 pregnant women was abstracted in DARE. Of the studies, 4 used transabdominal ultrasonography, 4 used transvaginal and 2 used a combination to detect congenital heart diseases during the first trimester. Eight studies assessed a high-risk population. Only 4 studies used an appropriate reference standard (postnatal or postmortem assessment). Pooled sensitivity and specificity were 85% (95% CI 78-90%) and 99% (95% CI, 98-100%), respectively. Sensitivity ranged in transabdominal ultrasound studies from 25% to 100%, in transvaginal ultrasound studies from 33 to 86% and in combination studies from 78 to 89%. Specifity was high in all studies ranging from 96% to 100%. The findings of high-quality studies were consistent with the overall results.

Comment: The quality of evidence is downgraded by study quality (lack of blinding and lack of an appropriate reference standard).

    References

    • Rasiah SV, Publicover M, Ewer AK, Khan KS, Kilby MD, Zamora J. A systematic review of the accuracy of first-trimester ultrasound examination for detecting major congenital heart disease. Ultrasound Obstet Gynecol. 2006;28(1):110-6. [DARE]

Primary/Secondary Keywords