In the second trimester of your pregnancy your physician may suggest genetic testing to rule out several possibilities and prepare for the future. To understand some of these tests you should have a basic understanding of what genetics really is.
Genetics is a science that studies the heredity of specific characteristics and how traits are passed from one generation to the next. These characteristics can be physical such as eye or hair color or they can by the tendency to inherit a certain disease.
The science of genetic testing in second trimester studies the chromosomes which carry the genes. These genes are like little computers that tell the body how to develop and function.
They give each of us individual characteristics. Each person carries two genes for each trait. One gene will be expressed and the other will be masked. So if you are a carrier of a disease you have the gene but no symptoms because the gene is masked.
When doctors do genetic testing in the second trimester they may be looking for genes in both the mother and father that are recessive, or masked. If both parents have recessive gene for the same disease then their children have the potential for having both recessive genes at the same time and therefore the symptoms of the disease.
There are four different types of genetic testing in second trimester that your doctor may order depending upon your specific situation. There are chromosomal studies that look at the chromosomes as a whole but don’t give specific information about genes or proteins associated with a disease.
Fluorescence in situ hybridization (FISH) testing is a technique that uses a special dye and microscope to identify chromosomes that cause problems when there is an extra chromosome present such as in Down Syndrome.
Biochemical testing measures the level of enzymes that are present in a sample to determine if the protein is functioning properly. For instance doctors looking for Tay-Sachs disease may use the biochemical test to measure the levels of hex A in the blood.
Indirect testing is a bit like knowing what street your friend lives on and that he has trees in his yard, but not the house number. In this case the scientists will compare the genetic material of the patient in question and compare it against family members who are carriers and who have the disease.
Using direct genetic testing in second trimester can be used when the researchers know exactly where a gene is located and what changes cause the problems.
Genetic testing in the second trimester of pregnancy can be done to screen for certain types of birth defects before the baby is born. It cant diagnose a birth defect but only give a risk potential for the baby to have certain genetic disorders. If the screening indicates there is an increased risk then the parents may be advised to have additional testing.
An example is the serum screening of the mother that can identify if the baby is at higher risk of having an open neural tube defect, Down Syndrome or trisomy 18. It isn’t a definitive diagnosis but will give the parents the risk potential of these conditions in their child.
Other genetic testing in the second trimester involves an amniocentesis which is a prenatal diagnostic test. These tests actually use the genetic material of the baby and can offer conclusive testing. An amniocentesis is a procedure where some of the fluid around the baby is removed using a needle. This can be done safely at 16 weeks or later but some physicians can do the testing earlier.
The fluid usually has sloughed off cells of the baby and those cells are evaluated for abnormal chromosomes. An amniocentesis is very accurate in identifying chromosomal conditions. The amniotic fluid can also be evaluated for alpha feto-protein (AFP) which can be a sign of a physical abnormality.
When the amniocentesis is performed in the second trimester the risk of miscarriage is low. This is why, unless necessary, this isn’t performed much earlier than 16 week.
During both the conception process and throughout pregnancy it is important that hopeful moms maintain their physical well-being and as well as their psychological health.
This broad field of women’s health includes psychological issues surrounding mood, stress and relaxation, as well as physical areas such as infertility, nutrition, morning sickness, labor and delivery and more.
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