“Some physical or intellectual difficulties can be found before birth as well“.
Many parents are obsessed about their baby’s health hence; few prenatal tests are referred to women during their routine pregnancy care. But few more might be done when there is a possibility that the baby could have a problem. Even though most babies will be healthy, about 2.5% are born with some problems. These problems might be minor, but few of them may cause serious physical or intellectual difficulties.
Traditionally, two methods are present to examine unborn fetus’s chromosome health. One method involves screening of maternal serum, a comparatively simpler but less sensitive to determine the risk of Edward syndrome (trisomy 18), down syndrome (trisomy 21) and neural tube defects. Another method involves tests such as CVS (chorionic villus sampling) or amniocentesis to identify inherited disorders and chromosome abnormalities whose sample found to be positive in maternal serum screening. But it may found risky in some cases due to an invasive procedure.
Recent studies are revealed that non-invasive prenatal testing (NIPT) is one of the most effective methods for screening down syndrome (trisomy 21), Edward syndrome (trisomy 18), Turner syndrome (monosomy X), Patau syndrome and (trisomy 13), triploidy. DFL is the only laboratory in India that offers analysis for all chromosomal aneuploidies and microdeletion along with trisomy 21, 18 & 13. It analyzes cell-free fetal DNA (cfDNA) from pregnant woman’s blood sample.
The maternal blood sample contains a mixture of both fetal (cfDNA) and maternal DNA. cfDNA fragment is analyzed in NIPT via Massively Parallel Sequencing (MPS) to identify the chromosome origin. Both the fragments are analyzed and chromosomal aneuploidies detected by comparing the amount of chromosomal material against a set of reference chromosomes.
It is safe and highly accurate even to perform in high-risk pregnancies i.e. cases of advanced maternal age, positively screened for biochemical screening and previous pregnancy history with aneuploidies. The test can be done as early as 10 weeks and has a perfect sensitivity with a very low false-positive rate.
Chromosomes are the structures that include genes which are made up of DNA. Genes are determining medical & physical characteristic such as blood type, looks, and vulnerability to diseases. Hence; it is better to be sure with such advanced tests in case of any doubts.
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