In this division, we explain a rare case of fetal Williams-Beuren syndrome diagnosis (WBS). While fetal diagnosis of WBS is intensely rare, in this case, WBS was found in the early stages of pregnancy. The discovery of fetal hands hypotonia and generalized before birth hypotonia at 17 weeks of gestation was critical. WBS was pinpointed using molecular karyotyping, specifically array comparative genomic combination (arrayCGH) of the fetal DNA. The genetic material was acquired by extracting it from fetal containers, which are abundant in amniotic fluid acquired through amniocentesis. Clinical hypotonia is a clinical feature that is mainly associated with WBS; however, before birth hypotonia has not been distinguished as a diagnostic criterion for the fetal diagnosis of WBS. Keywords: prenatal historical testing, fetal cure specialist, first trimester scan, before birth hypotonia, williams-beuren syndrome.
Author(s) Details:
Nikolaos K. Tsagkas,
Obstetrics and Gynecology Clinic, General
Hospital of Agrinion, Greece.
Michail
E. Billis,
General
Hospital of Filiates, Greece.
Please see the link here: https://stm.bookpi.org/RDMMS-V6/article/view/10029
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