PMID: 9160386Apr 1, 1997Paper

Prenatal detection of chromosome aneuploidies by fluorescence in situ hybridization: experience with 2000 uncultured amniotic fluid samples in a prospective preclinical trial

Prenatal Diagnosis
T BryndorfJ Philip

Abstract

Successful rapid prenatal detection of selected numerical chromosome abnormalities by using fluorescence in situ hybridization (FISH) on uncultured amniotic fluid samples has been described by Klinger et al. (1992) and Ward et al. (1993, 1997). Using essentially the same FISH protocol and identical probes specific for chromosomes 21, 18, 13, X, and Y, we prospectively compared the results of FISH and conventional cytogenetics on 2000 amniotic fluid cell samples. The 1-day FISH assay yielded discrete differences in the signal profiles between cytogenetically disomic, i.e., normal, and trisomic samples. Due to intermittent absent Y-signals, the assay differentiated less well between samples with cytogenetically normal and abnormal sex chromosome complements. The assay efficiency, and thus the clinical utility, was affected by (1) unsuccessful hybridizations (7 per cent of all hybridizations), (2) hybridizations with less than 50 scorable nuclei (19 per cent of all hybridizations), and (3) visibly contaminated samples with possible maternal cell contamination (14 per cent of all samples). As a result, we were not able to reproduce the results of Klinger et al. (1992) and Ward et al. (1993, 1997).

References

Dec 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·R Wevrick, H F Willard
Jan 1, 1996·Prenatal Diagnosis·E J WinsorB E Ward
Apr 1, 1997·American Journal of Obstetrics and Gynecology·M E D'AltonD W Bianchi

❮ Previous
Next ❯

Citations

Sep 7, 2006·Cytogenetic and Genome Research·M StummH Eckel
Dec 28, 1999·Human Reproduction·J J van Der SmagtF P Vandenbussche
Jan 3, 2001·European Journal of Obstetrics, Gynecology, and Reproductive Biology·A TóthI Gáti
Jun 22, 1999·American Journal of Medical Genetics·R Al-MuftiK H Nicolaides
Dec 4, 2009·European Journal of Pediatrics·Jutta JendernyOliver Bartsch
Sep 30, 2005·Prenatal Diagnosis·Xiao Xi ZhaoYasuhiko Ozaki
Feb 24, 2006·Fetal Diagnosis and Therapy·Herman E WyandtAubrey Milunsky
Mar 15, 2006·Prenatal Diagnosis·Michel B ChoueiriPierre A Zalloua
Apr 14, 2007·Molecular Human Reproduction·M ChoolaniUNKNOWN Rapid Molecular Testing in Prenatal Diagnosis Group

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.