Novel Insights from Clinical Practice

Thompson W.S.a,b· Bendel-Stenzel E.M.c· Lanpher B.C.d· Arteaga G.M.e· Stetson R.C.c· Mavis S.C.c

Author affiliations

aCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA
bDepartment of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA
cDivision of Neonatal Medicine, Mayo Clinic, Rochester, MN, USA
dDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, USA
eDivision of Pediatric Critical Care Medicine, Mayo Clinic, Rochester, MN, USA

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Article / Publication Details

First-Page Preview

Received: October 31, 2022
Accepted: January 24, 2023
Published online: March 21, 2023

Number of Print Pages: 5
Number of Figures: 1
Number of Tables: 1

ISSN: 1661-7800 (Print)
eISSN: 1661-7819 (Online)

For additional information: https://www.karger.com/NEO

Abstract

Classic alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare congenital lung disorder presenting in the early neonatal period with refractory hypoxemic respiratory failure and pulmonary hypertension. No curative treatment is currently available. Although definitive diagnosis is obtained by histology, lung biopsy is often challenging in unstable, critically ill neonates. Molecular diagnosis has been achieved with chromosomal microarray and targeted gene sequencing; however, each of these modalities can be limited by turnaround time, coverage of the genome, and inability to detect all pathogenic variant types for ACDMPV. We present a case of ACDMPV diagnosed via rapid genome sequencing and posit that rapid genomic sequencing, including both rapid exome and genome sequencing, has an expanding role in severe neonatal respiratory failure as a comprehensive and noninvasive approach to timely diagnosis.

© 2023 S. Karger AG, Basel

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First-Page Preview

Received: October 31, 2022
Accepted: January 24, 2023
Published online: March 21, 2023

Number of Print Pages: 5
Number of Figures: 1
Number of Tables: 1

ISSN: 1661-7800 (Print)
eISSN: 1661-7819 (Online)

For additional information: https://www.karger.com/NEO

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