Many prospective parents who worry if their baby had Down syndrome or some other abnormal chromosome conditions. The test can help determine the possibility of babies have this condition. The result could help you decide whether to undergo invasive diagnostic tests to know for sure about the baby's condition. The test can tell you how the baby may have this condition, but only diagnostic tests such as amniocentesis that tell whether the baby actually has the condition. Screening tests do not give a dangerous risk to mother and baby, but the diagnostic tests have a small risk of miscarriage, though.
Chromosome Abnormalities in Baby with Down SyndromeChromosomes are thread-like structures in each cell that carry genes. Most people have 46 chromosomes in each cell, with one set of 23 comes from the mother's egg cell and the other set from the father's sperm. Biological errors can occur during the early stages of cell division, causing abnormalities of the chromosomes. For example, some of the developing baby with 47 chromosomes. Not with 23 pairs of chromosomes, they have 22 pairs plus a set consisting of three chromosomes, chromosome abnormal condition is called trisomy.
Often, pregnant women expecting a baby with abnormal chromosome number miscarried, which usually occurs early in pregnancy. But with some conditions specific abnormal chromosome, the baby survived and was born with developmental problems and birth defects ranging from mild to severe.
Down syndrome, also known as trisomy 21, occurs when a baby has an extra copy of chromosome 21 in some or all cells. Down syndrome is the most common abnormal condition in infants that can be taken at birth. Other chromosomal problems, the baby could be born with trisomy 18 and trisomy 13. This abnormal condition is almost always associated with mental retardation and other congenital malformations. If they survive until birth, these infants rarely live for more than a few months, there are some babies who survive for several years.
Anyone can have a baby with a chromosomal condition that is abnormal, but the risk increases with maternal age. For example, chances are you having a baby who suffered from Down syndrome increased from about 1 to 1040 at the age of 25 years into one appeal 75 at age 40.
A chromosomal problem can not be corrected or treated. If the baby is diagnosed with one of them, you can prepare a baby with certain developmental problems or not continue the pregnancy. Down syndrome diagnostic tests also have drawbacks. These diagnostic tests do not catch all cases of Down syndrome, so it could be your baby identified as having a low risk when he is actually experiencing Down syndrome. Instead, the test results can show your baby has a higher risk when she is fine. It makes you feel worried about the actual condition of the baby is fine.
There are many variations of the test approaches that can be served. Several tests were performed in the first trimester, and a few others in the second trimester. Tests include blood tests, ultrasound, or ideally, a combination of both. Different tests have different detection ranges as well. The range of detection tells you how good a test to identify infants who actually are at higher risk.
The following tests can be done to detect Down syndrome in the fetus:
1. Screening TestScreening tests using blood samples and ultrasound measurements to assess the possibility of a baby has a chromosomal problem, including Down syndrome. These tests are invasive (meaning, in this case, do not do income needle into the uterus, so no risk to you or the baby).
Screening tests can tell if your baby is actually suffering from Down syndrome. In addition, this test also gives a ratio that expresses the possibility of the baby has a problem, based on test results and your age. This information can help you decide whether to continue to undergo diagnostic tests.
2. Diagnostic TestDiagnostic tests such as chorionic villus sampling (CVS) and amniocentesis can tell by more than 99 percent accuracy whether the baby has abnormal chromosomes. This test can identify several hundred genetic disorders by analyzing the genetics of a collection of cells in the placenta. But both of these tests give even a small risk of miscarriage.
3. Nuchal Translucency (NT) TestExamination in the first trimester includes blood tests to measure levels of two proteins in the blood and a special ultrasound called nuchal translucency (NT) test. Blood tests in the first trimester to measure two proteins produced by the placenta, the Beta-hCG, and PAPP-A. Pregnant containing a baby with Down syndrome are more likely to have abnormal levels of these two proteins in the blood. Blood tests can be done from week 9 until the end of week 13.
Nuchal translucency (NT) test measures the clear space on the network behind the baby's neck. Baby with abnormal chromosome conditions tends to accumulate more fluid at the back of the neck during the first trimester, causing this clear space becomes more widespread. Nuchal translucency (NT) test can only be done between week 11 until the end of week 13 of pregnancy. Because this test requires expertise and special equipment, these facilities may not be available in many smaller-scale health institutions.