Here are 5 things you should keep in mind about one such problem – chromosomal abnormalities.
In about 0.5 to 1 per cent of all live births, the baby is found to have a recognizable chromosome abnormality. Often women are worried and anxious during their pregnancy! They want to know if their child is fine. But often at the time of birth they find themselves in a trauma after figuring out that the child is suffering from a chromosomal abnormality such as Down syndrome. These common chromosomal abnormalities can be screened during early stages of the pregnancy, it is important every expecting mother is aware about what these are and how they can get their child screened. Below are the things you need to know
The very first thing you should start with is, know what Chromosomes are
Chromosomes are thread like structures present in the central part (nucleus) of the living cells. They are composed of DNA and therefore are the physical forms which consists our genes. Human beings have 23 pairs of chromosomes with a total of 46 (two copies of each chromosome).
Moving to how chromosomes can create problems in conception and pregnancy
Health and development issues appear if there is an extra or a missing chromosome in the fetus. This may have severe consequences such as miscarriage, a still born baby or development issues in the newborn. Most chromosome abnormalities occur as an accident in the egg or sperm or at the time of conception.
Know how chromosomal abnormalities occur
Chromosome abnormalities typically occur as a result of errors in meiosis/mitosis, and it is also associated with factors such as advanced maternal age, Low sperm count of the male partner, hormonal imbalance such as PCOS and Thyroid play a crucial role in quality of the egg and sperm in couples. In women over 35 years of age, 79% of embryos are chromosomally abnormal.
Here are few fearsome facts and stats attached to chromosomal abnormalities
About 50% miscarriages occur due to chromosomal abnormalities, most common of which are Trisomy 13 (Patau Syndrome), Trisomy 18 (Edward Syndrome) and Trisomy 21 (Down syndrome). In fact, according to estimates, every year approximately over 65 out of every 1000 live birth suffer from birth defects in Middle Eastern countries. The most common is Trisomy 21 also known as Down syndrome.
Get your baby screened during early stages of pregnancy to rule out chromosomal abnormalities
The current standards for detecting prenatal chromosomal abnormalities require the use of invasive techniques such as amniocentesis and chorionic villus biopsy, which carry a risk of 0.5% to 2% of miscarriage.
Non-Invasive Analysis of Chromosomal Examination (NACE®), is a non-invasive prenatal screening test (NIPT Test), is completely safe for the mother and baby. It detects abnormalities in chromosomes 21, 18, and 13 (Down, Edwards, and Patau syndromes). A small blood sample taken from the arm, just like in any other routine blood analysis, is sufficient to run the test. The test can be performed from the 10th gestational week onwards. NACE® test also reveals the information about baby gender and avoids delays in the delivery time for the results.
