Tuesday, November 1, 2011

Early Detection of Ovarian Cancer

Ovarian cancer is the second most common cause of female reproductive cancer. In 2010 22,000 women were diagnosed with ovarian cancer and almost 14,000 died from their disease. In most cases by the time the diagnosis has been made, the disease is in an advanced stage, with maybe a 30% chance of surviving 5 years, even with the best treatment available.
Our profession has been struggling for years to find a way to detect ovarian cancer in the early stage where there is greater than a 90% 5-year survival.
The CA-125 blood test has been available for many years, but has long been known to be very inaccurate, especially in pre-menopausal women. Many other conditions can lead to elevated levels of CA-125 which then might lead to unnecessary surgery. On the other hand, ovarian cancer can still be present even with a normal level of CA-125.
Routine vaginal ultrasound has been studied in low-risk and high-risk groups. So far, the data do not show an acceptable rate of early detection due to the high number of false positive diagnoses. Many women have positive findings on vaginal ultrasound, but there is not a reliable way to determine if this findings are harmless and will resolve on their own or if thet are suspicious for cancer and thus warrant exploratory surgery.
A new test called the OVA1® may prove to be helpful. OVA1® is the first blood test cleared to help a physician evaluate the likelihood that an ovarian adnexal mass is malignant or benign prior to a planned surgery.
The OVA1® can help determine ahead of time the chance that an ovarian adnexal mass is malignant, help the ob/gyn doctor identify patients who might need referral to gynecologic oncologists and might lead to improved patient outcomes.

New “Ultra Low Dose” Birth Control Pill

Despite the fact that the Pill underwent its 50th birthday not long ago, the pharmaceutical industry continues to develop new versions that promise to be safer, lower dose and have less side effects while remaining highly effective.
The perfect Pill would work 100% of the time with no risks and no side effects of any kind. Wouldn’t that be great! We may not be there yet, but we have moved one step closer with the release of Lo Loestrin Fe.
This is the first and only Birth Control Pill on the market to have 50% less estrogen than commonly prescribed low dose Pills. Low dose pills have been available for years, and typically they have 20 micrograms of estrogen (20 mcg.), but the new Lo Loestrin Fe has only 10 mcg.
This lower dosage leads to less side effects than ever before, but with the same 98% effectiveness shared by all other birth control pills. For more information, click here to go to their web site.

New test for EARLY detection of Down Syndrome

Many expecting parents worry about the chance that their unborn baby has Down Syndrome. This genetic disease nearly always develops after conception and therefore is NOT inherited from the parents. Amniocentesis has long been available as a diagnostic test but poses a risk of losing the pregnancy. Alternatively, the nuchal translucency test (the NT test) is a safe test done at 12 weeks of pregnancy can help determine if the chance for Down Syndrome is high or low with about 90% accuracy.
However, there is now an amazing blood test that can be done on the mother’s blood and can determine with 99% accuracy if the baby she is carrying does or does not have Down Syndrome. The test is called the MaterniT21 test, available only from Sequenom Labs.
The MaterniT21 test was validated in high-risk couples that had either advanced maternal age, an abnormal fetal ultrasound or abnormal screening test, or a family history of Down Syndrome. We still do not know if the accuracy will be as high for low-risk couples, but there is every reason to believe that it will.
Down Syndrome, also called Trisomy 21, means that the person has 3 copies of chromosome 21 instead of the normal 2 copies that the rest of us have. The MaterniT21 test uses breakthrough technology to identify microscopic particles of DNA from the baby that are present in the mother’s bloodstream.  The amount of DNA from the fetal chromosome 21 is compared to DNA from other fetal chromosomes in the blood sample. If the amount of chromosome 21 DNA is normal, then the baby does not have Trisomy 21. Thus a simple blood test, done as early as 10 weeks of pregnancy, can in the great majority of cases provide needed reassurance to concerned expectant parents.

Universal Genetic Screening

Have you ever heard of Alpha 1 antitrypsin deficiency? How about GJB2-related hearing loss? You have probably heard of cystic fibrosis. These 3 diseases are all recessive genetic diseases. In fact there are thousands of these types of diseases but most are quite rare.
People are born with a recessive genetic disease because they inherited a recessive genetic mutation from both parents. Each parent would have been a silent carrier, also called having a recessive trait. This recessive trait does not cause disease and many people have recessive traits that they do not even know they have. DNA testing can identify carriers of recessive traits.
If a couple both carry the same recessive trait, their baby has a 25% chance of being born with a recessive genetic disease. Alpha 1 antitrypsin deficiency is a genetic illness that causes liver and lung disease in children and is the single most common disease requiring a liver transplant, affecting 1 in 2,500 people. GJB2-related hearing loss causes 20% of all cases of childhood deafness, affecting about 1 in 2,500 people. Cystic Fibrosis causes severe lifelong lung and intestinal problems and affects 1 in 3,000 people.
Until recently, it was extremely expensive to test people for recessive traits. But there is now a very affordable test called the Universal Genetic Test, offered by Counsyl Labs. This test can detect over 100 different recessive DNA traits, including the above 3 and many others such as Tay-Sach’s Disease, Spinal Muscular Atrophy (SMA) and more.
We now offer this test to both expecting parents. Testing early in pregnancy can help to identify if the baby is at risk for a genetic disease that we would never have known about otherwise.