Late Diagnosis of Coarctation Despite Prenatal Ultrasound and Postnatal Pulse Oximetry

Abstract

To determine what contribution prenatal ultrasound screening and neonatal pulse oximetry screening (POS) make to the timely diagnosis of neonatal coarctation of the aorta (CoA). METHODS:We identified infants 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 infants were in circulatory failure on readmission. Five of the patients who were not discharged died without surgery and undiagnosed CoA was the most probable cause of death in 2 of these patients.

How Accurate Is the Pulse Oximeter, and Does It Matter?

“…This confirms what has been published by Schmitt et al [2] and Ross et al [3], both cited by the authors, as well as many others [4,5,6,7]. Only one study did not find substantial differences [4].…”

“…We should be clear that pulse oximetry was never intended to detect all congenital heart disease (e.g., simple ventricular septal defects and mild aortic or pulmonic stenosis), so that sensitivity should be calculated only for CCHD. Pulse oximetry is also known to miss many infants with interrupted aortic arch, critical aortic stenosis, and especially coarctation of the aorta [5], as well as infants with tetralogy of Fallot who have not yet developed a right to left shunt.…”

“…However, for false negatives that consist of subjects with normal arterial oxygen saturations (coarctation of the aorta, tetralogy of Fallot with no right to left shunt), refining pulse oximetry is not the answer. Perhaps the best strategy would be to mandate home visits by a nurse or physician within 2-5 days after hospital discharge, as suggested by Lannering et al [5]. …”

Does measurement of four-limb blood pressures at birth improve detection of aortic arch anomalies?

“…14 The detection rates for Co-A are much lower with a recent article from the Swedish registry reporting that only 3/90 cases were diagnosed antenatally. In this series, of the 46 infants who were discharged home after birth undiagnosed, 1 patient died at home and was diagnosed postmortem and 22 presented in circulatory failure at readmission or shortly thereafter 15 . Low antenatal detection rates combined with high morbidity and mortality associated with late diagnosis and excellent long-term prognosis with timely diagnosis emphasize the need for an early postnatal screen for aortic arch anomalies 15 .…”

Fetal “Aortic Coarctation” and Different Neonatal Follow-Up in 3 Cases

“…False negative diagnoses of fetal CoA are also an important problem 23 , but this was not the aim of our analysis in this report.…”