Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome
Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hyp...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Elsevier,
2022-05-01T00:00:00Z.
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| Summary: | Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling. A normal female karyotype was detected. The parents consented to chromosome microarray analysis (CMA), which identified a de novo mutation of the TCS1 gene locus on chromosome 5. Conclusion: Molecular CMA is an effective tool for prenatal diagnosis of congenital craniofacial abnormalities associated with Treacher Collins syndrome. |
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| Item Description: | 1028-4559 10.1016/j.tjog.2022.03.020 |