Late Diagnosis of XXXX Despite Prenatal Ultrasound and Postnatal Pulse Oximetry.

@entity1 @entity1498 @entity299
OBJECTIVES: To determine what contribution prenatal ultrasound screening and neonatal pulse oximetry screening (POS) make to the timely diagnosis of @entity1498 of the aorta (CoA). METHODS: We identified @entity1 and fetuses diagnosed with isolated CoA in our referral area between 2003 and 2012 who died without surgery, underwent surgical repair before 2 months of age, or were terminated after a prenatal diagnosis. Clinical data were collected from hospital charts. RESULTS: Only 3 of the 90 cases were diagnosed prenatally. Two of the 3 were born alive and in 1 case the couple opted for termination of pregnancy. Nineteen of the remaining 87 cases were born in units that used POS (hand and foot) and 4 of 19 screened positive. Of the remaining 83 cases, 46 were discharged undiagnosed (7 after nondiagnostic echocardiography), including 9 with a murmur and weak femoral pulses and 8 with a murmur and normal pulses. One was diagnosed postmortem after dying at home, and 22 of the remaining 45 discharged @entity1 were in circulatory failure on readmission. Five of the @entity1 who were not discharged died without surgery and undiagnosed CoA was the most probable cause of death in 2 of these @entity1 . CONCLUSIONS: The contribution of prenatal ultrasound screening and postnatal POS to the timely diagnosis of CoA was low. Careful physical examination of all newborns therefore continues to play a fundamental role in detecting this life-threatening @entity299 , and better screening methods need to be developed.
