PMID: 11914694Mar 27, 2002Paper

Developments in laboratory techniques for prenatal diagnosis

Current Opinion in Obstetrics & Gynecology
Peter MinyWolfgang Holzgreve

Abstract

Ongoing trends in prenatal diagnosis aim at early, rapid, and ideally noninvasive diagnosis as well as at the improvement of risk-screening for aneuploidy. Interphase-fluorescence in situ hybridization and quantitative fluorescence polymerase chain reaction are efficient tools for the rapid exclusion of selected aneuploidies in addition to the established direct preparation of chromosomes from chorionic villi. Interphase fluorescence in situ hybridization has also made possible the diagnosis of selected chromosome abnormalities in single cells (e.g. in preimplantation genetic diagnosis) or noninvasive diagnosis. More complex multicolor fluorescence in situ hybridization approaches are currently being evaluated. Single cell polymerase chain reaction is the key technique for the molecular diagnosis of a growing number of monogenic conditions before implantation or, still more experimental, in fetal cells retrieved from the maternal circulation. New sources for noninvasive diagnosis came into play such as fetal DNA or cell nuclei in maternal plasma. The combination of biochemical parameters in the maternal serum, namely free beta-human chorionic gonadotropin with pregnancy associated plasma protein A and sonographic markers, has a...Continue Reading

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Citations

Sep 14, 2002·Prenatal Diagnosis
Aug 17, 2006·Fetal Diagnosis and Therapy·Nicoletta Di SimoneAlessandro Caruso
Jan 13, 2006·European Journal of Radiology·Markus Hengstschläger
Jul 10, 2003·Clinics in Laboratory Medicine·Alan E Donnenfeld, Allen N Lamb
Jan 14, 2004·European Journal of Human Genetics : EJHG·Béatrice GodardSégolène Aymé
Mar 14, 2003·Current Opinion in Obstetrics & Gynecology·Csaba Papp, Zoltán Papp

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