Genetics and miscarriage (2)

Genetics and miscarriage. Miscarriage or spontaneous abortion is the problem in nearly about 10% of known pregnancies. The etiologies are normally obscured. Recurrent problems are the nightmares for every families. To uncover the genetics causes of miscarriage might help in family planning and make a good decision among choices of reproduction. This paper is technical, please see the final conclusion about genetic and miscarriage that can get from this paper below.

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy†


Damien L. Bruno1, Trent Burgess1, Hua Ren1, Sara Nouri1, Mark D. Pertile1, David I. Francis1, Fiona Norris1, Bronwyn K. Kenney1, Jan Schouten2, K.H. Andy Choo1, Howard R. Slater1,*Article first published online: 14 NOV 2006




Chromosome analysis of spontaneous miscarriages is clinically important but is hampered by frequent tissue culture failure and relatively low-resolution analysis. We have investigated replacement of conventional karyotype analysis with a quantitative subtelomere assay performed on uncultured tissue samples, which is based on Multiplex Ligation-Dependent Probe Amplification. This assay is suitable for this purpose as approximately 98% of all observed karyotype abnormalities in spontaneous miscarriages involve copy-number change to one or more subtelomere regions. A pilot study has compared karyotyping and subtelomere analysis on 78 samples. Extensive tissue necrosis accounted for failure of both karyotyping and subtelomere testing in four (5.1%) samples. Excluding these, there were no (0/74) subtelomere test failures compared to 9.5% (7/74) karyotype failures. Twenty-two (30%) whole chromosome aneuploidies and five (6.8%) structural abnormalities were detected using the subtelomere assay. With the exception of three cases of triploidy, all karyotype abnormalities were detected by the subtelomere assay. Following on from this study, a further 100 samples were tested using the subtelomere assay in conjunction with a simple ancillary FISH test using uncultured cells to exclude polyploidy in the event of a normal subtelomere assay result. Except for three necrotic samples, tests results were obtained for all cases revealing 18 abnormalities including one case of triploidy. Taking into consideration the high success rate for the combined MLPA and FISH test results, and the very significant additional advantages of cost-effective, high-throughput batching, and automated, objective analysis, this approach greatly facilitates routine investigation of chromosome abnormalities in spontaneous miscarriage


What does it mean from this paper?

We already knows that genetic play a substantive role in cases of miscarriages. To identify the underlying etiologies of specific family will be necessary for genetic counselling and planning for next pregnancy. This paper show that at the moment, the genetic test is revolutionalized to a very rapid and comprehensive style that can detect the genetic abnormalities and give the results to the patients and families with a satisfied proportion. Conventional methods using long and tedious process of cytogenetics method will be replaced by these techniques. Contact your local medical geneticists and genetic counselers for more information, Do not trust Direct to consumer genetic tests without genetic counselers service!