A Fetus with 17q23.1-q23.2 Microdeletion Presents with Primary Bilateral Lung Hypoplasia in Utero. (2nd January 2023)

• Record Type: Journal Article
• Authors: Yao, Longmei; Xu, Yan; Deng, Yan; Zeng, Shi
• Is Part Of: Fetal and pediatric pathology. Volume 42:Number 1(2023)
• Page Start: 144
• Page End: 148
• Publication Date: 2023-01-02
• Subjects: 17q23.1-q23.2 microdeletion -- primary bilateral lung hypoplasia -- fetus; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2022.2069893
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: 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.