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Updated: Aug 22, 2025

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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Advantages of current fetal neuroimaging and genomic technologies in prenatal diagnosis: A clinical case
Pedro M Almeida1, Joaquim Sá2, Miguel Branco3
1Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal.
European Journal of Medical Genetics
|November 14, 2022
Abstract:
The diagnosis of prenatal microcephaly, as well as the possibility of underlining a genetic cause, is becoming more frequent thanks to advances in prenatal imaging and parallel massive sequencing. One case of primary microcephaly in three sibs demonstrates how complementary diagnostic exams can help to diagnose and establish the etiology.

