Current practice and future perspective of the Prenatal Genetic Service in Slovenia

Volk, Marija; Teran, Nataša; Maver, Aleš; Lovrečić, Luca; Peterlin, Borut

doi:10.13112/pc.2015.17

Cited by 1 publication

(1 citation statement)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The conventional genetic approach using targeted molecular methods, like Sanger or PCR, is useful (enables) in the diagnostics of cases with ultrasonographically well-defined phenotypes associated with specific diagnostic hypothesis in genetically homogenous CA (e.g., TAR, achondroplasia) and is the method of choice for prenatal testing in cases of familial monogenic condition with known pathogenic variant [24]. In cases with poorly defined phenotype and genetically heterogeneous CAs (many genes responsible for the same phenotype), this approach rarely warrants the diagnosis.…”

Section: Targeted Molecular Genetic Testingmentioning

confidence: 99%

Genomic Testing for Prenatal Clinical Evaluation of Congenital Anomalies

Rudolf¹,

Lovrečić²,

Maver³

et al. 2018

Congenital Anomalies - From the Embryo to the Neonate

Self Cite

View full text Add to dashboard Cite

Congenital anomalies occur in about 2-3% of liveborn and 20% of stillborn infants. They constitute a serious public health and epidemiological problem. The etiology of congenital anomalies is complex; they can result from genetic factors, environmental factors, or a combination of both. It is estimated that genetic factors represent an important cause of congenital anomalies and may be due to different genetic mechanisms: aneuploidies, deletions and duplications of DNA segments, and single gene disorders. Due to the genetic complexity, the targeted prenatal genetic diagnostics of congenital anomalies is usually problematic and challenging. In recent years new diagnostic algorithms for prenatal genetic testing are being developed with the advent of new genomic technologies, like molecular karyotyping and next-generation sequencing. These technologies offer testing options that exceed conventional karyotyping and targeted molecular genetic testing with better diagnostic yield. In this chapter, an overview of the conventional genetic diagnostic approach and the use of new genomic technologies in the diagnostic algorithm of prenatally detected congenital anomalies are discussed.

show abstract

Section: Targeted Molecular Genetic Testingmentioning

confidence: 99%