ISSN: ISSN: 2157-7412
+44 1223 790975
Irene Gómez-Manjón
Division of Prenatal Diagnosis, Department of Genetics, 12 de Octubre Hospital, Avda. De Cordoba s/n 28041 Madrid,
Spain
Case Report
Noninvasive Prenatal Detection of a Partial Trisomy 4 Using Whole Genome Semiconductor Sequencing
Author(s): Irene Gómez-Manjón, Ana Moreno-Izquierdo, Marta Moreno-Garcia, David Escribano and Francisco Javier Fernandez-MartinezIrene Gómez-Manjón, Ana Moreno-Izquierdo, Marta Moreno-Garcia, David Escribano and Francisco Javier Fernandez-Martinez
Massively parallel sequencing of cell free fetal DNA (cffDNA) obtained from maternal plasma is used to detect fetal trisomies and selected sex chromosomal aneuploidies. Different technologies can be used to detect fetal chromosomopathies noninvasively, such as Next Generation sequencing and microarrays. In this case report, we show a procedure for detecting chromosomal imbalances as a result of balanced translocations inherited from parents, using noninvasive prenatal detection of common aneuploidies based protocol. This case study illustrates the potential power of whole-genome semiconductor sequencing when used to augment the diagnostic spectrum of noninvasive prenatal testing to detection of copy number variants... View More»