Zeitschrift für genetische Syndrome und Gentherapie
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Noninvasive Prenatal Detection of a Partial Trisomy 4 Using Whole Genome Semiconductor Sequencing

Irene 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.