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Evidence LibraryPregnancy and prenatal testingWhat screening misses
Evidence Library · What screening misses

The heart is the hardest thing to see

Across 91 US centres, 34% of babies who needed heart surgery in their first six months had been diagnosed before birth.

If there is one organ where the anatomy scan is weakest, it is the heart.

A study of 31,374 US infants who had heart surgery before six months of age, operated on at 91 centres between 2006 and 2012, asked how many had been picked up before birth.

34%
Diagnosed before birth
Across 91 US centres
11.8% to 53.4%
Range between states
For the same kinds of babies
32%
Outflow-tract lesions
Versus 57% for lesions visible on the four-chamber view

Detection improved over the period, from 26% in 2006 to 42% in 2012. But the variation between states was enormous, running from 11.8% to 53.4%, and the authors called it out: Rates of prenatal CHD detection in the United States remain low for patients undergoing surgical intervention, with significant variability between states and across defect type.

Earlier European work found heart detection far below every other organ system, at 38.8% of major heart and great vessel abnormalities, against 88.3% for the brain and spinal cord and 84.8% for the kidneys and urinary tract.

What this does not meanIt does not mean the scan is worthless, and it does not mean you should demand a fetal echocardiogram. Most babies do not need one. What it means is that a normal anatomy scan is weaker evidence about the heart than about the brain or the kidneys, and that where you live changes the odds more than it should.

It also means that a baby who seems well at birth and then deteriorates in the first days is not necessarily a case of anything being missed through carelessness.
Say this out loud"Were the outflow tracts seen clearly, not just the four chambers?"

"Is there anything in my history or the family history that would make a dedicated heart scan sensible?"

"What would a heart problem look like in my baby in the first days at home?"
Where this comes from:
479. Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol. 1999;181(2):446-454.
480. Quartermain MD, Pasquali SK, Hill KD, Goldberg DJ, Huhta JC, Jacobs JP, et al. Variation in prenatal diagnosis of congenital heart disease in infants. Pediatrics. 2015;136(2):e378-e385.

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