Cytogenetic diagnosis of "normal 46,XX" karyotypes in spontaneous abortions frequently may be misleading

Fertility and Sterility
K A BellR F Feinberg

Abstract

To use the molecular identification of Y chromosome material in products of conception cytogenetically diagnosed as "46,XX" to confirm the occurrence of inaccurate cytogenetic test results most likely attributable to maternal cell contamination. Retrospective analysis. Academic medical center. Thirty-four archival tissues from cases of spontaneous abortion with a "46,XX" karyotype based on cytogenetic analysis. Maternal and villus DNA were extracted from microdissected, formalin-fixed, paraffin-embedded archival tissues. The presence of the X and Y chromosomes was detected with the use of polymerase chain reaction assays and confirmed with fluorescence in situ hybridization. Accuracy of cytogenetic evaluation of products of conception. Four (29%) of 14 first trimester and 1 (5%) of 20 second trimester "46,XX" pregnancy losses contained Y chromosome-specific DNA and demonstrated a single X chromosome-specific allele by polymerase chain reaction analysis consistent with an "XY" karyotype. Fluorescence in situ hybridization was confirmatory in 4 of 5 samples that demonstrated single X and Y signals in villus cells. Inaccuracy exists in the cytogenetic analysis of early products of conception that most likely is due to maternal cel...Continue Reading

References

Aug 31, 1989·Nature·G Taylor
Jan 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·W D TilleyM J McPhaul
Dec 1, 1994·American Journal of Reproductive Immunology : AJRI·C B Coulam
Sep 26, 2002·Journal of Biochemistry and Molecular Biology·Mohammad Belayat HossainHaseena Khan

❮ Previous
Next ❯

Citations

Sep 28, 2007·Journal of Assisted Reproduction and Genetics·Ruth B LathiAmin A Milki
Aug 3, 2010·Journal of Assisted Reproduction and Genetics·Sofia DóriaFilipa Carvalho
Jun 20, 2013·Journal of Applied Genetics·Chiara Donatella ViaggiM Pierluigi
Nov 11, 2003·Fertility and Sterility·Jaime FerroVicente Serra
Jan 28, 2003·Cancer Genetics and Cytogenetics·Matthew HardwickVassilios Papadopoulos
Jul 21, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Caroline RobberechtJoris Robert Vermeesch
Jan 20, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stuart A ScottLisa Edelmann
Mar 22, 2014·Morphologie : Bulletin De L'Association Des Anatomistes·K HaoudS Moulessehoul
Jun 1, 2014·Journal of Assisted Reproduction and Genetics·Hsin-Hsin ChengTe-Yao Hsu
Aug 4, 2010·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Berta CarvalhoFilipa Carvalho
Sep 11, 2009·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Sofia DóriaAlberto Barros
Dec 14, 2005·The Journal of Obstetrics and Gynaecology Research·Meral Yirmibes KaraoguzSevda Menevse
Apr 13, 2011·Prenatal Diagnosis·Vaidehi JobanputraDorothy Warburton
Jun 9, 2006·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Dimitar N AzmanovDraga I Toncheva
Nov 22, 2012·Prenatal Diagnosis·Francesca R GratiFrançois Vialard
Mar 18, 2015·Journal of Assisted Reproduction and Genetics·Inmaculada Campos-GalindoCarmen Rubio
Sep 11, 2010·Fertility and Sterility·Jamie A M MassieRuth B Lathi
Nov 3, 2005·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·Yali HuHengmi Cui
Mar 8, 2005·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Svetlana G VorsanovaYuri B Yurov
Apr 6, 2006·Fertility and Sterility·Santiago MunnéUNKNOWN Referring Centers PGD Group
Feb 27, 2015·Genetika·T V Nikitina, I N Lebedev
Jun 24, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Trilochan SahooKarine Hovanes
Oct 21, 2004·American Journal of Reproductive Immunology : AJRI·Caterina De CarolisRoberto Perricone
Jun 19, 2019·Molecular Genetics & Genomic Medicine·Kimia NajafiRoxana Kariminejad
May 10, 2013·American Journal of Reproductive Immunology : AJRI·Zofia Maria PiosikOle Bjarne Christiansen

❮ 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.