PMID: 9551303Apr 29, 1998Paper

Applied molecular genetic techniques for prenatal diagnosis

Current Opinion in Obstetrics & Gynecology
Ignatia B Van den Veyver, B B Roa

Abstract

Molecular laboratory techniques are increasingly important in the evaluation of fetuses at risk for a single gene disorder or chromosomal abnormality and for the detection of genetic or other conditions that can lead to an adverse fetal or maternal outcome. The localization and identification of novel disease genes allows for mutation analysis or linkage studies on fetuses at risk for these disorders. New assays or techniques for mutation detection in single gene disorders such as amplification refractory mutation system polymerase chain reaction, fluorescent polymerase chain reaction, heteroduplex analysis and the protein truncation test are now applied in prenatal diagnosis. Recent advances in molecular cytogenetics, such as comparative genomic hybridization, the primed in-situ labeling technique, the development of new telomeric probes and spectral karyotyping, are being evaluated for their role in the prenatal diagnosis of chromosomal abnormalities. These methods may greatly improve the accuracy and applicability of preimplantation genetic diagnosis or diagnosis on fetal cells isolated from maternal blood.

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Citations

Apr 22, 2005·BJOG : an International Journal of Obstetrics and Gynaecology·Mandy G Katz-JaffeDavid S Cram
Apr 9, 2008·Journal of Acquired Immune Deficiency Syndromes : JAIDS·Susan CasselsMartina Morris
Aug 15, 2019·Analytical and Bioanalytical Chemistry·Huan HuangGuoying Zhang

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