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. 2022 Dec 24;14(1):62.
doi: 10.3390/genes14010062.

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

Hayley A Ron  1   2 , Terrence Blaine Crowley  1 , Yichuan Liu  1 , Marta Unolt  3 , Erica Schindewolf  1 , Julie Moldenhauer  1   2 , Jack Rychik  1   2 , Elizabeth Goldmuntz  1   2 , Beverly S Emanuel  1   2 , Douglas Ryba  1 , James William Gaynor  1   2 , Elaine H Zackai  1   2 , Hakon Hakonarson  1   2 , Donna M McDonald-McGinn  1   2   4
Affiliations

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

Hayley A Ron et al. Genes (Basel). .

Abstract

Interruption of the aortic arch (IAA) is a rare but life-threatening congenital heart defect if not corrected in the neonatal period. IAA type B is highly correlated with 22q11.2 deletion syndrome (22q11.2DS); approximately 50% of patients with IAA type B also have 22q11.2DS (Peyvandi et al.; Goldmuntz et al.). Early identification and repair of IAA can prevent severe morbidity and death. However, IAA is challenging to identify prenatally, or even in the neonatal period. In this study, we examined infants with IAA, diagnosed during pregnancy and prior to discharge (PPTD) from the birth hospital vs. those diagnosed following discharge (FD) from the newborn nursery. Our goals were to determine: (1) if early diagnosis improved outcomes; and (2) if patients with IAA and without 22q11.2DS had similar outcomes. In total, 135 patients with a diagnosis of 22q11.2DS and IAA were ascertained through the 22q and You Center at the Children's Hospital of Philadelphia (CHOP). The examined outcomes included: timing of diagnosis; age at diagnosis (days); hospital length of stay (LOS); duration of intensive care unit (ICU) stay; mechanical ventilation (days); duration of inotrope administration (days); year of surgical intervention; birth hospital trauma level; and overall morbidity. These outcomes were then compared with 40 CHOP patients with IAA but without 22q11.2DS. The results revealed that the PPTD neonates had fewer days of intubation, inotrope administration, and hospital LOS when compared to the FD group. The outcomes between deleted and non-deleted individuals with IAA differed significantly, in terms of the LOS (40 vs. 39 days) and time in ICU (28 vs. 24 days), respectively. These results support the early detection of 22q11.2DS via prenatal screening/diagnostics/newborn screening, as IAA can evade routine prenatal ultrasound and postnatal pulse oximetry. However, as previously reported in patients with 22q11.2DS and congenital heart disease (CHD), patients with 22q11.2DS tend to fare poorer compared to non-deleted neonates with IAA.

Keywords: 22q11.2 deletion syndrome; congenital heart disease; critical congenital heart disease screening; interrupted aortic arch; prenatal diagnosis; type B interrupted aortic arch.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Demonstrating increasing prenatal detection rate of IAA by decade.
Figure 2
Figure 2
Difference in outcomes between prenatal and postnatal IAA detection. See Supplementary File S1 for complete details of the analysis.
Figure 3
Figure 3
Length of ICU stay.
Figure 4
Figure 4
Length of Hospital Stay for those patients with IAA with and without 22q11.2DS.
See this image and copyright information in PMC

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