Advanced Testing In Screening For Birth Defects

For anyone having a baby, no matter their age or genetic makeup, there is a natural worry of birth defects. No one wants to hear the devastating news that their baby’s survival rate of a genetic disorder is low. Ninety-six percent of women with a positive test on the standard screen don’t end up having a child with Down syndrome.

In order to be truly sure of a diagnosis, women with a positive test undergo more invasive testing such as amniocentesis or chorionic villus sampling. Not only are these tests more invasive, they carry with them a risk of miscarriage.

When you are pregnant, a doctor will offer the option of getting an amniocentesis but most women opt not to have it because of the risk of miscarriage. In most cases, they only get it if their blood test showed a positive result. It’s a stressful risk and involves weeks of agonizing over waiting for results to either find out the blood test was right or that it was wrong and your growing baby is healthy. No one wants to deal with that.

But there is a new non-invasive blood test with a higher accuracy rate called the cell free DNA test (cfDNA). It looks at small amounts of actual fetal DNA in mom’s blood. It can be done as early as the 10th week of pregnancy. Cell-free DNA testing is thought to detect greater than 99 percent of all Down syndrome pregnancies and greater than 98 percent of all trisomy 18 pregnancies. It detects about 65 percent of all trisomy 13 pregnancies.

Researchers performed the test on nearly 2,000 pregnant women and found that the rate of false positives with this new test was 10 times lower than with standard screening measures, which are done later in the pregnancy.

If you were screened positive with cfDNA test, there was a 45 percent chance that your fetus had Down syndrome, and if you had a standard test only a 4 percent chance that the fetus had Down syndrome. It is recommended for women who are at high risk for having a baby with birth defects and a non-invasive option for those who get a positive on the standard screening.

The cfDNA test provides more accurate information at an earlier stage of pregnancy and it’s ultimately up to the parents what they do with that information. There is a catch to this test though. The American College of Obstetrics and Gynecology has yet to update recommendations on screening which means this test is not likely to be covered by insurance.

This advanced test also totes a hefty price tag. Four companies offer cell free DNA testing: Verifi, MaterniT21, Harmony, and Panorama. A single test generally costs anywhere from $795 to $2,000, compared to standard screens that are usually around $200-250. And until further research is done, it remains unlikely that this will be covered by standard insurance plans.

Physicians are hopeful that this could represent the future of prenatal testing and almost eliminate the high rate of false positives that standard screening provides. Right now, you would not be covered by insurance for this test but if you are at high risk for chromosomal defects, the out of pocket cost would likely feel worth every penny for the peace of mind during your pregnancy.

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Cancer Vaccines Keep Hope Alive

Many scientists have devoted their time to ending the battle against cancer.  While we have yet to win the ongoing battle, their work is not without promise.  There are several vaccines to treat pancreatic and ovarian cancers, melanoma, multiple myeloma and a form of lung cancer that are in development but have not yet moved into the FDA approval pipeline. 

The PANVAC vaccine, a vaccine that coaxes the body to attack tumor cells has shown promise in a small study of advanced breast and ovarian cancer patients, improving overall survival times and stopping the disease for a handful of breast cancer patients

In the study, it was administered to 26 women through monthly shots, helped the body’s immune system recognize proteins produced specifically by cancer cells, said study author Dr. James Gulley, director and deputy chief of the clinical trials group at the Laboratory of Tumor Immunology and Biology at the U.S. National Cancer Institute.

All of the women had breast or ovarian cancer that had spread to other organs and were considered “heavily pre-treated” with other therapies, with 21 having received at least three chemotherapy regimens. In addition to the four breast cancer patients whose disease stopped progressing, one woman with breast cancer experienced a complete response, meaning her cancer disappeared. 

No matter how small the study is — and early studies will be small — when there are positive results on a particular technique, it brings us hope to an end of a terrible disease.  Even though this is a small study, it must be taken into consideration that these were women who have exhausted other avenues of therapies with no progress and  are therefore, more difficult patients to treat.  Even if only one showed a complete response, that’s one precious life saved. 

Researchers Announce Alzheimer’s Breakthrough

British scientists have generated brain tissue from human skin are claiming a major breakthrough.  Researchers wrote that their findings could speed up the hunt for new treatments for diseases of the cerebral cortex, such as epilepsy and autism, to neurodegenerative conditions such as Alzheimer’s disease.  The findings will enable scientists to study how the human cerebral cortex develops, how it ‘wires up’ and how that can go wrong (a common problem leading to learning disabilities).

Created cerebral cortex cells (those that make up the brain’s grey matter) will allow them to recreate brain diseases, such as Alzheimer’s, in the lab which will provide new insight to the disease and its processes.  It may also allow them to develop and test new drugs to stop the diseases from progressing.

Until now it has only been possible to generate tissue from the cerebral cortex, the area of the brain where most major neurological diseases occur, by using controversial embryonic stem cells, obtained by the destruction of an embryo.  This has meant the supply of brain tissue available for research has been limited due to ethical concerns and limited availability.  Researchers were able to create the two major types of neuron that make up the cerebral cortex from reprogrammed skin cells and show that they were identical to those created with the more controversial embryonic stem cells.

The cerebral cortex makes up 75 percent of the human brain. It is where all the important processes that make us human take place.  It’s the part of the brain that’s responsible for most of the high-level thought processes such as memory, language and consciousness. It is, however, also the major place where disease can occur.  We have been able to take reprogrammed skin cells so they develop into brain stem cells and then essentially replay brain development in the laboratory.

Researchers now have the ability to study brain development and what goes wrong when it is affected by disease in a way they haven’t been able to before.