Abstract
AbstractThe authors present a case of prenatally diagnosed fetal terminal 4q deletion in the cytoband 4q33q35.2, inherited from the mother. The index pregnancy was referred at 28+2 weeks of gestation for polyhdramnios. Prior to performing the scan, distinctive facial features were noted in the mother. Target scan confirmed polyhdramnios, and revealed fetal retrognathia. The fetal karyotype reported a terminal 4q33>ter deletion, which was further delineated by chromosomal microarray analysis. Subsequently, maternal karyotype revealed identical deletion. Subtle fetal ultrasound abnormalities should receive meticulous assessment, and evaluation using the currently available wide range of cytogenetic and molecular gene tests.
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