Mahtab Zaghi

Ms. Mahtab Zaghi


Research Focus & Metrics

Academic Career Length

5Years (2022-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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8 March 2022 in Reproductive Medicine
Verified
Journal Article
Open access
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MZMahtab Zaghi
Mahtab Zaghi
KJKatrien Janssens
Katrien Janssens
WHWim Hectors
Wim Hectors
PLPhilip Loquet
Philip Loquet
Bettina BlaumeiserBettina Blaumeiser
Bettina Blaumeiser
Tetrasomy 9p is a chromosomal disorder characterized by the presence of a supernumerary chromosome. This rare abnormality exhibits a broad phenotypic variability and is not clearly distinguishable from other more frequent aneuploidies in the prenatal setting. We present two prenatal cases with dissimilar phenotypes, one with solely increased fetal nuchal translucency and one with multiple congenital anomalies, and discuss prior studies. These cases illustrate the difficulty of prenatally diagnosing this condition based on phenotypic information alone. We conclude that invasive prenatal diagnosis with (molecular) karyotyping is the best choice for the prenatal detection of tetrasomy 9p.