Reports outline Apert syndrome genetics study results from University College
2007 AUG 21 -- Scientists discuss in "Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound" new findings in Apert syndrome. "To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second-trimester of pregnancy using 2D ultrasound, and how 3D ultrasound examination may provide parents with a better understanding of the structural defects affecting their baby. Fetal Medicine Unit database searches to identify Apert syndrome cases," scientists in London, the United Kingdom report. "Five cases of Apert syndrome were suspected in the second-trimester when sonography showed abnormal extremities including syndactyly, and an abnormal skull shape. In 1 case there was increased nuchal translucency with a normal fetal karyotype in the first-trimester. In all cases, a mutation of the FGFR2 gene confirmed the diagnosis of Apert syndrome. 3D ultrasound was used to show parents the extent of the abnormalities of the skull, face and extremities," wrote A.L. David and colleagues, University College. The researchers concluded: "Parents were counseled by craniofacial surgeons and geneticists. Apert syndrome can be accurately suspected in the second-trimester by careful ultrasound examination of the fetus including the extremities and skull shape. 3D ultrasound can be a useful adjunct to 2D examination for parental counseling." David and colleagues published their study in Prenatal Diagnosis (Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenatal Diagnosis, 2007;27(7):629-32). For more information, contact A.L. David, University College London Hospital, Fetal Medicine Unit, London, UK. Publisher contact information for the journal Prenatal Diagnosis is: John Wiley & Sons Ltd., the Atrium, Southern Gate, Chichester PO19 8SQ, W Sussex, England. Keywords: United Kingdom, London, Apert Syndrome Genetics, Acrocephalosyndactylia, Apert Syndrome, Diagnosis, Diagnostics, Genetics. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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