If a fetus with DS has a normal OB-US, how useful is further screening?

Contemporary PEDS JournalNovember/December 2023
Volume 40
Issue 10

The study evaluated whether fetuses with Down syndrome and normal obstetric ultrasounds (OB-USs) had missed diagnoses of critical congenital heart disease (CHD) by conducting a retrospective review.

Investigators addressed this question by evaluating whether any diagnosis of critical congenital heart disease (CHD) was missed in a group of fetuses diagnosed with Down syndrome (DS) that had normal obstetric ultrasounds (OB-USs).

They conducted the retrospective chart review in 48 children diagnosed with DS who had undergone an OB-US that resulted in no cardiac concerns and had a fetal echocardiogram (F-echo).

Postnatal transthoracic echocardiograms (pTTEs) also were reviewed, when available. OB-US was performed at 20 weeks’ gestational age and F-echo at 24 weeks’ gestational age.

No patient with a normal OB-US who also had an F-echo had a diagnosis of a critical CHD, defined as any CHD that required catheterization or surgical intervention before 1 month of age.

Among those patients who also had a pTTE, 14 were diagnosed with CHD, largely characterized by septal defects and minor valve issues. F-echo correctly diagnosed 4 of the 14 diagnoses OB-US missed.

Investigators noted that although no critical CHD was missed on OB-US, some patients received postnatal diagnoses of CHD, and even F-echo did not demonstrate 100% sensitivity in detecting CHD.


If a reliable obstetrician did not detect any prenatal heart issues in a fetus with known trisomy 21, it should not be necessary to do further cardiac testing in utero.

Postnatal echocardiography still is indicated in the nursery, however.

For more from the November/December issue of Contemporary Pediatrics, click here.


Taylor K, Lovelace C, Richards B, Tseng S, Ogunleye O, Cua CL. Utility of screening fetal echocardiograms at a single institution following normal obstetric ultrasound in fetuses with Down syndrome. Pediatr Cardiol. 2023;44(7):1514-1519. doi:10.1007/s00246-023-03183-0

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