Sentences with phrase «many chromosome abnormalities»

The Non-Invasive Prenatal Testing process, also referred to as NIPT, offers peace of mind for many expecting parents by ruling out the need for invasive screenings for a wide range of chromosomal conditions including Down syndrome (Trisomy 21), Trisomy 18, Trisomy 13, and other fetal sex chromosome abnormalities.

About 4 percent of couples with recurrent miscarriages have chromosome abnormalities in one or both parents that can recur in future pregnancies, so some physicians suggest parental karyotype tests as a part of investigating the cause.

Preimplantation genetic screening, or PGS, is the testing of embryos for general chromosome abnormalities such as Down syndrome prior to transfer to the uterus.

Chromosome abnormalities are known to increase the risk of miscarriage and implantation failure — as well as causing genetic conditions like Down's syndrome.

«What drives the decline in oocyte quality in human females is chromosome abnormalities,» Hassold says.

As with humans, he says, the oocytes of C. elegans also show an increase in chromosome abnormalities with aging.

Worse still, the genetic errors in those eggs led to chromosome abnormalities in 40 percent of the next generation's eggs.

Scientists worry that although there hasn't been an obvious increase in birth defects so far, sex chromosome abnormalities may show up when the children reach puberty.

Over the next few years, similar maternal blood tests could detect hundreds of diseases caused by chromosome abnormalities or mutations, including cystic fibrosis, sickle cell anemia, Tay - Sachs disease, and genetic deafness and blindness.

For the first time, scientists have directly observed events that lead to the formation of a chromosome abnormality that is often found in cancer cells.

Before transfer to the uterus, embryos can be screened to rule out any with chromosome abnormalities, which can cause miscarriage and implantation failure, as well as conditions such as Down's syndrome.

Her finding provided one of the first indications that chromosome abnormalities could play a role in cancer.

«Ninety percent of human tumors have chromosome abnormalities, and we know that many of these are made possible by mutations in p53,» says Holland.

Now, a British - led research team has revealed that tiny chromosome abnormalities, missed by current genetic testing, may sometimes be to blame.

Sometimes the microscopic analysis of a child's cells shows a major chromosome abnormality.

Investigating the consequences of chromosome abnormalities arising during pre-implantation development of the mouse.

Older mothers face a well - established risk of producing eggs with chromosome abnormalities, but it is less clear how...

Cytogenetic identification of chromosome abnormalities has become essential for the clinical management of patients with leukemia and is currently used to help categorizing patients into risk groups.

Interview with ASHG Member Dr. Mark Daly About His Research On Autism and Chromosome Abnormalities NBC Nightly News with Brian Williams - Jan 9, 2008

The high incidence of chromosome abnormalities in clinically recognised pregnancies is well documented, but experience of these problems at the time of conception is extremely limited.

Other factors that may cause dwarfism is a deficiency of growth hormones or chromosome abnormalities.

It derives from pericytes associated with blood vessels and, at least in some cases, involves a chromosome abnormality (usually an extra or an absent chromosome).

Not exact matches

Jacobsen Syndrome is a very rare genetic abnormality caused by a partial deletion of chromosome 11.

Certain genetic abnormalities are present; some boys are born with an abnormal Y chromosome and they'll never produce normal sperm; even though they're normal males, they just don't have normal sperm production.

Screening tests tell your doctor the risk that your baby might have an abnormality in his or her genes or chromosomes.

«The most common cause of miscarriage is chromosomal abnormality — meaning that something is not correct with the baby's chromosomes.

The most common cause of first - trimester miscarriages is chromosomal abnormalities in the baby, especially trisomy (three copies of one or more of the 23 chromosome pairs).

Feinberg focused on a region on chromosome 11, because a handful of affected patients had abnormalities there, such as DNA that was repeated or deleted.

They found that an enzyme in yeast cells degrades the ends of certain chromosomes, leaving them prone to further abnormalities.

Another staining technique called comparative genome hybridisation (CGH), which labels all chromosomes, has previously been used to analyse abnormalities in the polar body — a chromosome - containing sac expelled from the egg shortly after fertilisation.

Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21.

27 percent reduction in conotruncal defects, or severe heart outflow tract abnormalities; 23 percent reduction in coarctation of the aorta — a narrowing of the major artery (the aorta) that carries blood to the body; 15 percent reduction in atrial and ventricular septal defects — holes in the wall separating heart chambers; however, no changes were seen with regard to chromosomally associated defects — abnormality in the number of an infant's chromosomes.

Recombination ensures that each gamete ends up with a unique copy of every chromosome, but when the process goes awry, it can result in chromosomal abnormalities.

Current prenatal screening protocols for common structural abnormalities in the chromosomes vary among countries and medical practices.

Bearden's earlier research had focused on children with abnormalities caused by missing sections of genetic material on chromosome 22, in a location known as 22q11.2.

It's not clear how that may have happened, because large deviations in the amount of DNA usually kills fetuses or renders them infertile because of abnormalities in the amounts of various proteins produced or because organisms can not tolerate having extra copies of sex chromosomes.

The abnormality, called a translocation, occurs when part of a chromosome breaks off and becomes attached to another chromosome.

Perera's paper in Cancer Epidemiology Biomarkers and Prevention linked the chromosomal aberrations, which were somewhat higher than normal, to air pollution: On average, the higher the hydrocarbons in the mothers» air, the more frequent the abnormalities seen in the infants» chromosomes.

The other marker is an aberrant pattern in the chromosomes; the DNA shows a greater number of abnormalities than normal, including DNA that is missing or moved.

One of the common features of follicular lymphoma is a genetic abnormality between two chromosomes (14 and 18).

Chromosome mis - segregation leads to aneuploidy, which is the leading cause of miscarriages and chromosomal abnormalities and is also linked to cancer.

For some inexplicable reason, the chromosomes in 40 % of the eggs looked abnormal — a wild jump from the 1 % to 2 % abnormality her lab typically observes.

Analyzing embryos for chromosome - number abnormalities makes pregnancy less likely, trial finds

Mental retardation and other developmental abnormalities are known to be the result of having three rather than two copies of chromosome 21.

The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells).

The discovery of the Philadelphia chromosome, which revolutionized cancer research by making the connection between genetic abnormalities and cancer

It is approved for treating low - risk, transfusion - dependent myelodysplastic syndrome (MDS) patients with an abnormality of chromosome 5q.

«In fact, abnormal cells with numerical and / or structural anomalies of chromosomes have been observed in as many as 80 - 90 % of human early stage embryos following in vitro fertilization,» says Professor Thierry Voet from the Wellcome Trust Sanger Institute, UK, and the University of Leuven, Belgium, another senior author of this paper, «and CSV tests may expose some degree of these abnormalities.»

Previous reports have shown that in a genetic abnormality called Philadelphia chromosome, fusion of ABL and BCR genes cause leukemia.

Several targeted drugs (e.g., imatinib [Gleevec ®], dasatinib [Sprycel ®]-RRB- are effective for treating CML because they attack cells with the Philadelphia chromosome, the genetic abnormality that is the hallmark of this type of leukemia.