Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called �Next Generation Prenatal Diagnosis� (NGPD)

Giorlandino, Claudio

doi:10.11138/jpm/2014.8.1.001

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2016

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“…Sequencing analysis was performed using the TruSight One Sequencing Panel (Illumina, San Diego, CA, USA) and next-generation sequencing on NextSeq (Illumina). After sequencing, we investigated only 300 genes whose mutations are responsible for approximately 100 well-known pathologies [ 23 ] ( Figure 1 ), including the genes associated with RASophaties.…”

Section: Resultsmentioning

confidence: 99%

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

Mucciolo¹,

Russo²,

D’Emidio³

et al. 2016

IJMS

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Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.

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Section: Resultsmentioning

confidence: 99%