A Fetus with 17q23.1-q23.2 Microdeletion Presents with Primary Bilateral Lung Hypoplasia in Utero.

Background

Patients with 17q23.1-q23.2 microdeletion syndrome have common features, including mild to moderate developmental delay; microcephaly; heart defects; and hand, foot, and limb abnormalities. Case Report: We describe a fetus with 2.14 Mb microdeletion involving 17q23.1-q23.2 and presenting with primary bilateral lung hypoplasia in utero. The fetal biometry measurement and estimated fetal weight had a two-week delay but they were still above the 10th percentile. There were no other structural abnormalities. Primary lung hypoplasia is infrequent and has a poor prognosis, especially when bilateral. There are no reports of fetal survival with primary bilateral lung hypoplasia.

Conclusion

This is the first report of the coexistence of primary lung hypoplasia and chromosome 17q23.1-q23.2 microdeletion detected during fetal life.