Chromosomal Abnormalities Current Events

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Test gives insight into prognosis in patients with plasma cell malignancies, finds Mayo Clinic study
A new Mayo Clinic study due to be presented at the annual meeting of the American Society of Human Genetics in San Diego this week shows that a chromosome test called 'FISH' is better than conventional methods in identifying chromosomal genetic abnormalities associated with plasma cell malignancies. (2007-10-24)

Proximity to landfill sites linked to increased risk of congenital chromosomal abnormalities
New data from a 1998 study to assess the potential risks of chromosomal abnormalities of residents living near landfill sites is detailed in a research letter in this week's issue of THE LANCET. The findings suggest that the increased risk of chromosomal abnormalities is of a similar magnitude to the increased risk of non-chromosomal abnormalities previously reported. (2002-01-24)

Changes in chromosomal constitution of preimplantation embryos suggest caution in genetic screening
Embryos that are selected out as abnormal can undergo chromosomal modifications, a scientist will tell the annual conference of the European Society of Human Genetics today, Tuesday, June 19. Tsvia Frumkin, from the Racine IVF unit, LIS Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, will tell the conference that her team's findings meant that the results of preimplantation genetic screening for chromosomal abnormalities were not always reliable, and should be interpreted with caution. (2007-06-18)

Genetic abnormalities found in some ALS patients
Researchers have discovered abnormalities in the chromosomes of several patients with sporadic, or non-hereditary, ALS, according to a study published in the April 22 issue of Neurology, the scientific journal of the American Academy of Neurology. ALS, or amyotrophic lateral sclerosis, is a progressive disease of the nervous system also known as Lou Gehrig's disease. (2003-04-21)

Prenatal biochemical screening only detects half of chromosomal abnormalities
Prenatal biochemical screening tests are widely used to look for chromosomal abnormalities in the fetus which can lead to serious handicap, or even death during gestation or in the first few days after birth. But these tests are only able to detect fewer than half of the total chromosomal abnormalities in the fetus. (2008-06-01)

PGD could save women from the agony of repeated miscarriages
Women who suffer repeated unexplained miscarriages can be helped to have babies if preimplantation genetic diagnosis (PGD) is carried out on their embryos before they are placed in the womb. (2002-07-01)

Study points to a safer, better test for chromosomal defects in the fetus
A noninvasive, sequencing-based approach for detecting chromosomal abnormalities in the developing fetus is safer and more informative in some cases than traditional methods, according to a study published by Cell Press January 10th in The American Journal of Human Genetics. This method, which analyzes fetal DNA in the mother's blood, could provide women with a cost-effective way to find out whether their unborn baby will have major developmental problems without risking a miscarriage. (2013-01-10)

Loss of chromosome 8p governs tumor suppression and drug response
In a typical cancer cell, up to one-quarter of the genome is lost due to large chromosomal deletions, while the concomitant loss of hundreds of genes creates vulnerabilities that are impossible to reveal through the study of individual genes. Professor Anna Sablina and her team at VIB/KU Leuven optimized a workflow for the generation of cell lines with targeted chromosomal deletions. (2016-05-10)

Abnormalities in pregnancies with failures for noninvasive prenatal testing
In a study to be presented on Feb. 6 in an oral concurrent session at 1:15 p.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers will report on the high rate of chromosomal abnormalities in patients in whom noninvasive prenatal testing fails to provide results. (2015-02-01)

Chromosomal microarray analysis proves accurate
Chromosomal microarray analysis, a two-year-old gene-chip technology used to look for potential genetic abnormalities in children, has proved to be remarkably sensitive in detecting abnormalities in individual chromosomes. (2007-03-28)

Chromosomal abnormalities uncovered in many couples struggling with recurrent miscarriage
A new study by investigators from Brigham and Women's Hospital, Shandong University and the Chinese University of Hong Kong uses a special genetic sequencing technique known as low-pass genome sequencing (GS) to look for chromosomal abnormalities in couples with RM. Low-pass GS revealed additional chromosomal abnormalities in more couples than traditional testing, increasing detection to 1 in 9 couples. (2019-10-31)

Early promise of non-invasive test for prenatal diagnosis
A new method for non-invasive prenatal testing is described in an Online Article published today (Friday, February 2, 2007) by the Lancet. (2007-02-01)

Israeli fertility experts call for international chromosome registry
If a woman undergoing artificial reproductive techniques suffers repeated failures of embryos to implant in her uterus it may be because she has a chromosomal abnormality, according to new findings by Israeli fertility experts. (2001-07-04)

Experienced pilots may be at risk of DNA damage from ionizing radiation
Airline pilots who have flown for many years may be at risk of DNA damage from prolonged exposure to cosmic ionizing radiation, suggests a study published ahead of print in Occupational and Environmental Medicine. (2008-12-10)

Woman pregnant after selecting healthy embryo
Fertility specialists and geneticists at Oregon Health Sciences University in Portland have performed the first successful preimplantation genetic diagnosis (PGD) in the Pacific Northwest. A 39-year old woman is five-months pregnant after selecting a genetically fit embryo through the procedure. (1999-10-28)

Monash discovery may help unlock the key to infertility in older women
Findings from new research led by the Monash Biomedicine Discovery Institute (BDI) and University College London may finally resolve, and potentially provide answers, as to why older women have higher incidences of miscarriage and have babies with chromosomal abnormalities. (2017-05-18)

Identification of bovine IVF embryos without chromosome abnormalities by live-cell imaging
Research groups of Tokyo University of Agriculture and Technology, Kindai University, FUSO Pharmaceutical Industries, Ltd. and NARO succeeded in selecting viable bovine IVF embryos by long-term live cell imaging. This technique revealed that bovine IVF embryos judged morphologically transferable according to the criteria of the International Embryo Technology Society have chromosomal abnormalities in about half of those. Following transfer of the selected two embryos without any abnormalities, pregnancies were observed in all recipients. (2018-05-10)

Costly tests unnecessary for some miscarriages, University of Pittsburgh geneticist says
Current standard practice in cases of repeated miscarriage frequently involves a lengthy series of diagnostic tests that often still do not pinpoint a cause yet rack up thousands of dollars in unnecessary costs, according to a geneticist at the University of Pittsburgh School of Medicine. A minor adjustment concerning which patients receive advanced work-ups could save millions yearly for patients, health care facilities and insurers while still giving many couples an answer for their losses. (2003-01-27)

Sequential screening provides better test performance than cell free DNA
In a study to be presented on Feb. 5 in an oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers will report that cell free DNA analysis is less effective than sequential screening as primary testing for fetal chromosomal abnormalities. (2015-02-02)

Chromosomal problems affect nearly all human embryos
For the first time, scientists have shown that chromosomal abnormalities are present in more than 90 percent of IVF embryos, even those produced by young, fertile couples (2009-07-01)

New technique could expand number of diseases detected by noninvasive prenatal testing
Researchers at the University of California, San Diego School of Medicine developed a method to expand the types of chromosomal abnormalities that noninvasive prenatal testing can detect. The study, published Nov. 9 by Proceedings of the National Academy of Sciences, uses a semiconductor sequencing platform to identify small chromosomal deletions or duplications, such as occur in Cri du Chat Syndrome and DiGeorge Syndrome, with a simple blood test from the expectant mother. (2015-11-09)

New method to detect genetic defects in egg cells could double the success rate of IVF
Infertility affects up to 15 percent of couples around the world, and in vitro fertilization (IVF) is one way to treat this common condition. A study published by Cell Press Dec. 19th in the journal Cell reveals a safe, accurate, and low-cost method to select genetically normal embryos for the IVF procedure and thereby increase a couple's chance of producing a healthy child. (2013-12-19)

A new mechanism that contributes to the evolution of cancer
This study demonstrates the existence of new fragile genomic sites responsible for chromosomal alterations in tumors. This novel mechanism explains up to 50 percent of the abnormalities associated with some types of leukemia. (2013-01-31)

New chromosome study can lead to personalised counselling of pregnant women
Foetuses with a specific, rare chromosomal aberration have a 20 per cent risk of a developmental disorder or another brain disorder, a new study conducted at the University of Copenhagen reveals. The findings may provide personalised diagnostics and counselling for these pregnant women. (2018-05-25)

New assessment reveals value of second embryo biopsy for women of advanced maternal age
An elegant new study confirms that the most commonly used method of screening for embryo abnormalities following in vitro fertilization does accurately predict the success of embryo transplantation for younger women, but not necessarily for those of advanced maternal age. (2012-11-07)

New technique detects specific chromosomal damage, may indicate lung cancer risk
A new technique could pave the way toward screening people at risk for lung cancer for the genetic changes that may foreshadow malignancies, researchers from the University of Colorado say. (2007-08-31)

Abnormal chromosomes forecast leukemia relapse
Patients with acute myeloid leukemia (AML) who enter remission with abnormal chromosomes in bone marrow cells are twice as vulnerable to recurrence of their disease as are AML patients with normal bone marrow cells at remission, according to a new study. The findings by researchers call for routine testing for chromosomal abnormalities in AML patients at diagnosis and again when patients enter remission. (2004-06-16)

Overweight mothers who smoke while pregnant can damage baby's heart
Mothers-to-be who are both overweight and smoke during their pregnancy risk damaging their baby's developing heart, finds research published online in Heart. (2012-01-30)

Study suggests smoking while pregnant may increase chromosomal abnormalities in fetal cells
A preliminary report suggests that maternal smoking during pregnancy is associated with increased chromosomal abnormalities in fetal cells, according to a study in the March 9 issue of JAMA. (2005-03-08)

Chromosomal aberrations created during in vitro fertilization do not endanger future baby
The process of in vitro fertilization (IVF) is often unsuccessful due to chromosomal changes that occur in an embryo fertilized in a test tube. So far, it was not known whether these changes also transfer to the baby, but an article published in the Nature Medicine journal shows that these genetically mutated cell lines are not inherited to the child. (2019-11-05)

Genetic test for melanoma developed at UCSF
A genetic test to help pathologists identify melanoma, the most common type of skin cancer, has been developed by researchers at University of California, San Francisco, and may be available to pathology labs within a year. (2000-03-08)

UB Fertility Researchers Find They Can Predict Pregnancy By Assessing Two Sperm Abnormalities
Fertility researchers in the University at Buffalo School of Medicine and Biomedical Sciences have found a link between two sperm abnormalities and low pregnancy potential. The results, presented at the annual meeting of the American Urology Association, offer a model for predicting pregnancy. (1998-05-29)

Chromosomal Abnormalities Key For Prediting Leukemia Outcome
One of the longest running studies to follow leukemia patients has confirmed that chromosomal abnormalities seen in many of these patients can help determine treatment and predict the likelihood of cure. The study is a 15-year follow-up of 628 patients with acute myeloid leukemia (AML). (1998-03-26)

Stem cells central to pathogenesis of mature lymphoid tumors
New research suggests that blood stem cells can be involved in the generation of leukemia, even when the leukemia is caused by the abnormal proliferation of mature cells. The study, published by Cell Press in the August 16 issue of the journal Cancer Cell, may guide future strategies aimed at identifying therapeutic targets for chronic lymphocytic leukemia. (2011-08-15)

Refining the language for chromosomes
Brigham and Women's Hospital proposes a new classification system that may standardize how structural chromosomal rearrangements are described. (2014-04-17)

University of Maryland physicians use ultrasound in novel way
Physicians at the University of Maryland Medical Center are using a new ultrasound technique to detect increased risk of genetic abnormalities like Down syndrome and heart disorders in unborn babies. The beauty of the ultrasound test -- called nuchal translucency screening -- is that it is accurate, non- invasive and is performed at 10-14 weeks, much earlier in the course of pregnancy than amniocentesis. (2001-06-17)

New, less invasive genetic test greatly improves pregnancy rates in older women with poor prognosis
A new test examining chromosomes in human eggs a few hours after fertilization can identify those that are capable of forming a healthy baby. The team's work had already enabled seven ongoing pregnancies in a group of older women with a history of multiple failed IVF attempts. (2009-06-29)

University of Seville researchers reveal the role of a DNA repair mechanism
An important step forward in understanding more exactly what the mechanisms are that allow, if not correctly repaired, certain DNA breaks to be exchanged with others, so generating chromosomal translocation. (2017-10-31)

Late third trimester ultrasound may detect missed fetal abnormalities
In a study published in Ultrasound in Obstetrics & Gynecology that involved more than 50,000 pregnancies, a fetal anomaly was detected for the first time in the third trimester in one in 200 women who had undergone a first and/or second trimester ultrasound examination. (2019-10-09)

Faulty intellectual disability genes linked to older dads at conception
Chromosomal abnormalities linked to intellectual disability can be traced back to the father, particularly those who are older when the child is conceived, finds research published online in the Journal of Medical Genetics. (2011-10-03)

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