Prenatal diagnosis of fetuses with Emanuel syndrome: Results of ultrasound examination and invasive genetic testing
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6098
Abstract: To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis. read more here.
Keywords: diagnosis fetuses; fetuses emanuel; diagnosis; syndrome results ... See more keywords
Prenatal diagnosis of Emanuel syndrome – case series and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2022.2114331
Abstract: Abstract We present three new cases and review of the literature on the prenatal diagnosis of Emanuel syndrome (ES). Twenty-one foetuses have been analysed. In all three cases diagnosed in our department, posterior fossa abnormalities… read more here.
Keywords: diagnosis; posterior fossa; emanuel syndrome; review literature ... See more keywords
Non-invasive prenatal screening for Emanuel syndrome
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DOI: 10.1186/s13039-020-0476-7
Abstract: Objective The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromosome microduplication detection. Methods… read more here.
Keywords: prenatal screening; invasive prenatal; non invasive; emanuel syndrome ... See more keywords