Prenatal Genetic Screening and Diagnosis-Part 1
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Obstetrics & Gynecology".
Deadline for manuscript submissions: closed (20 February 2014) | Viewed by 69590
Special Issue Editors
Interests: prenatal screening and diagnosis; non-invasive prenatal testing; cytogenetics; microarray; pregnancy biomarkers
Special Issues, Collections and Topics in MDPI journals
Interests: prenatal screening and diagnosis; genetic counseling; carrier screening; non-invasive prenatal screening
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
For the past five decades, there has been an increasing pace of progress in screening and diagnosis of genetic disorders in the fetus. Biochemical tests on maternal serum and ultrasound identification of fetal abnormalities and biomarkers currently provide the basis for identifying high-risk pregnancies. The ability to analyze cell-free DNA in maternal plasma now provides the opportunity to further test for fetal aneuploidy and some single gene disorders. Definitive diagnosis still requires invasive sampling methods (amniocentesis and chorionic villus sampling) but this testing has been substantially enhanced through the addition of chromosome and single nucleotide polymorphism (SNP) microarrays so that now small copy number changes (microdeltions/microduplications) can be reliably detected. Pre-implementation genetic testing has also benefited from the application of advances in molecular genetics with an expanded number of mutations and imbalances identifiable in embryos. In the near future, it is expected that DNA sequencing will provide unprecedented levels of information about the fetal genome in regard to form (physical structure) and function (behavior). How these technical advances will be introduced into obstetric care raises significant ethical, legal and moral challenges and clinical services will likely vary considerably in different healthcare settings.
This Special Issue compiles articles that reflect the current state-of-the-art and are also indicative of some of the anticipated advances in prenatal screening and diagnosis.
Prof. Dr. Peter Benn
Prof. Dr. Eugene Pergament
Guest Editors
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Keywords
- prenatal
- maternal serum
- ultrasound
- non-invasive testing
- microarray
- aneuploidy
- genetic disorders
- pre-implantation
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