Pregnancy In The 21st Century: A Non-Invasive Alternative to Amniocentesis

We're in an age ruled by science and technology, and your pregnancy is definitely going to be affected at some point in the near future - or currently - by the breakthroughs in modern medicine. One of the most popular trends in pregnancy-related science has been that of the noninvasive genetic testing. These prenatal DNA tests are able to test for multiple chromosomal abnormalities such as trisomy 21 (Down Syndrome) or trisomy 18 (Edward Syndrome).

These types of tests are most commonly performed on expectant mothers that are deemed as increased risk pregnancies, such as a mother that is over 35, or has had a previous family history of genetic birth defects. In this case, it wasn't at all uncommon for a physician to recommend an amniocentesis in order to test the baby for common genetic abnormalities. Amniocentesis is still used, but now it is just one of multiple options that your healthcare provider has in order to test for chromosomal abnormalities.

Amniocentesis is an invasive procedure, but until recently it was the only way to test for certain chromosome abnormalities, genetic disorders, or neural tube defects. Trisomy 21 (Down Syndrome) is the most common of these abnormalities but the test can also uncover additional chromosomal abnormalities such as those found in trisomy 18 (Edward Syndrome) or trisomy 13 (Patau Syndrome). Besides the uncomfortable nature of the procedure, another drawback with amniocentesis is that the family would typically have to wait until the fifteenth week of the pregnancy, and it isn’t unheard of to wait until twenty weeks to be able to do a safe amniocentesis. The obvious benefit to the prenatal DNA testing is both in speed (from lab to your healthcare provider's office in 5 days) and the fact that the tests are simple and more accessible than ever.

With an obvious need for noninvasive prenatal tests, doctors have begun using cell free DNA tests that can detect the some of the same sort of genetic issues as a traditional amniocentesis. Bioscience companies like Sequenom are making this sort of testing easily accessible by medical professionals who prefer a test without the risk of prenatal invasive procedures. It seems the problem in past years wasn't the procedural awareness - DNA sequencing and genetic testing has been around for more than a decade - but dealing with off-site laboratories that made this sort of testing accessible.

A simple prick from a needle and a small amount of blood now give lab technicians all they need in order to test for genetic mutation and deformities such as trisomy 21 (Down Syndrome), trisomy 18 (Edward syndrome) and trisomy 13 (Pateau Syndrome). In fact, the testing has success rates of 99-percent at detecting trisomy 21 pregnancies, 98-percent with trisomy 18, and about 65-percent with trisomy 13. With trisomy 13 tests, there is often a need for an amniocentesis or chronic villus sampling (CVS) with positive test results.

The test itself often relies on a simple blood test taken from the mother. A small amount of blood is drawn and sent to a laboratory and your healthcare provider will receive the results within 5 days from the date the laboratory received the initial sample.

The future is bright for early detection of all types of birth defects. These simple noninvasive procedures are set to revolutionize the way doctors test for complication in high risk pregnancies. In many cases, knowing about defects before the birth of the child helps the parents to prepare for the specific set of challenges they'll face after the baby is born.


This is a blog post by Nancy Evans.

Effects of Aging on the Skin

Human skin is amazing. Not only does it keep all of your organs inside your body, it performs other functions including:

•  Protects you from ultraviolet radiation and environmental irritants;

•  Prevents the moisture inside your body from escaping;

•  Helps regulate your body temperature;

•  Eliminates wastes; and,

•  Acts as the first line of defense against diseases and infections.

Because it performs so many functions, and is so exposed, your skin is often the first to show early signs of aging.

How Aging Affects Your Skin

Your skin is made up of three distinct layers, all of which help it perform its many functions.

•  The epidermis is the outer layer. It is made up of cells that overlap and stack on top of each other like tiny plates of water. When the epidermis is healthy and intact, it is water-tight and also prevents bacteria, viruses and other foreign substances from getting inside your body. The epidermis also contains melanin which contributes to your skin color and filters out UV radiation.

•  The dermis is the middle layer. It is the thickest layer and is made up of collagen, elastin, and fibrillin, which give the skin its strength and shape. It contains several structures like nerve endings for sensation, sweat to help regulate body temperature, blood vessels to feed the skin nutrients and regulate body temperature, and hair follicles. The dermis also contains glands that release an oily substance called ceramides, which moisturize the epidermis, and help form the barrier against water and foreign substances.

•  The hypodermis is the bottommost layer. It contains blood vessels to feed the skin and regulate temperature, fat cells for insulation, and connective tissue to anchor the skin to your body.

As you age, the layers of your skin stop functioning as well as they should. For example, the glands in the dermis could stop making enough ceramides, causing the epidermis to dry and crack.

Several factors can determine how quickly your skin ages, including as lifestyle, skin tone, ethnicity, and heredity. However, one major factor is UV radiation.

Although the skin is designed to be a UV filter, it is not immune to the effects UV radiation. Long-term exposure to UV radiation can damage all of the cells and structures in the skin, such as melanin cells, collagen cells, and even the glands that make ceramides. In the best case scenario, the damage prevents the cells and structures from functioning properly, leading to wrinkles, cracks, dark spots, and other signs of aging. In the worst case scenario, it can lead to cancer.

Protecting Your Skin

The best way to protect your skin is to avoid direct sunlight as much as possible, and wear sunscreen whenever you do go out into the sun. Stay hydrated, so that your sweat and oil glands have enough water to do their jobs, and moisturize your skin often.

If your skin is already showing signs of aging you could try one or more of the following:

•  Anti-aging cleansers, moisturizers, and serums that contain products that stimulate collagen production, such as peptides and Retin-A;

•  Phytoceramides. Phytoceramides are plant-based versions of the ceramides your skin naturally produces. Used topically, phytoceramides are supposed to hydrate the skin, and repair wrinkles and other signs of aging. Phytoceramides are available in the US as a dietary supplement, but they might not be available in all areas. You might have to talk to a dermatologist or skin specialist about where to buy phytoceramides.

•  Skin fillers, such as natural collagen. Skin fillers help fill in the creases and lines caused by collagen loss in the skin, and some of them also help stimulate your natural collagen production.

•  Microdermabrasion or skin peels. Both skin peels and microdermabrasion both remove some of the cells in the epidermis which immediately reduces the appearance of fine lines and wrinkles, and stimulates collagen production to help keep wrinkles at bay.

•  Laser skin resurfacing. Laser skin resurfacing uses pulses of light to plump up the skin and fill in wrinkles, lines, and ridges, and stimulate collagen production.

•  Your doctor or dermatologist. You should always consult your physician if you feel that your skin is aging too quickly, of if you are concerned that some dark spots and age marks are the sign of a more serious issue – especially if you have a family history of skin cancer.

This is a blog post by Nancy Evans.