Noninvasive Prenatal Screening (NIPS): An Innovative Approach to Understand Prenatal Genetic Disorders

Noninvasive chromosomal testing methods are gaining importance during pregnancy. These methods pose a low risk to the health of the mother and the child. Using a simple blood test, genetic testing of the developing fetus can be performed. This noninvasive testing can help to detect rare genetic disorders, chromosomal abnormalities, and fetal aneuploidies. Noninvasive method is specific and helps the doctor to analyze the root cause of the genetic abnormality. Noninvasive prenatal testing (NIPT), also known as Noninvasive prenatal screening, is one type of noninvasive method that modernizes the field of genetic testing during pregnancy.

More about NIPT:

NIPT uses advanced Next Generation DNA sequencing technologies as the base to understand the health of the developing fetus. These sequencing technologies can sequence the genome at a depth of greater than >100x to decipher errors in the genome of the fetus. The errors can be visualized by the doctors to identify the specific rare genetic disorder or chromosomal abnormality. NIPT is usually recommended to the women who have an advanced maternal age (<35), had a history of stillbirth or miscarriage, and may have detected fetal aneuploidies in other diagnostic procedures.

NIPT Offerings:

Noninvasive prenatal testing offered by several diagnostic companies and genetic testing organizations. Genes2Me, one of the leading diagnostics and thought leaders in the field of genetic testing, offers NIPT testing in Mother and Child Care segment. NIPT screening panel screen for three different trisomy’s that are more prominent to present in the developing fetus. Chromosomal trisomies include Trisomy 21 (Down’s syndrome), Trisomy 18 (Edwards’ syndrome), and Trisomy 13 (Patau’s syndrome). Apart from these three major trisomy’s, other important fetal aneuploidies pertaining to different genetic disorders and syndromes are also detected. Specific microdeletions that have a high chance to present in the developing fetus also form the part of Genes2Me NIPT screening panel.

NIPS Sample Collection & Analysis:

Noninvasive prenatal screening sample usually involves the collection of maternal serum having the presence of fetal cell-free DNA. This specific DNA isolated from the blood is subjected to different kinds of analysis using various technologies and instruments. Analytical reports decoding the genome of the developing fetus are generated to understand the presence of rare genetic disorders and chromosomal abnormalities. Reliable and accurate results are provided by performing noninvasive prenatal analysis. Pre and post genetic counseling sessions are also offered to help the couple in understanding the genes and possible diseases that developing fetus may face during the growth and development phase.

Which one to opt? Invasive technique or NIPT?

Invasive techniques are another set of testing methodology used for analyzing the health and growth of the developing fetus. These techniques, unlike NIPT, uses instruments that are used to isolate fetal or placental fluid. This tissue is analyzed for genetic abnormalities and chromosomal disorders. However, invasive methods of prenatal screening pose 2% risk to the health of mother and fetus. In some cases, these techniques may result in miscarriage also. NIPT does not pose any threat to the health of child and mother. However, some false-positive results may be obtained.

It depends on the end-user to go either for NIPT or invasive prenatal testing for the detection of rare genetic disorders or chromosomal abnormalities. We strongly recommend Noninvasive prenatal screening for prenatal testing in the first trimester of pregnancy.

Follow Genes2Me for more updates on Noninvasive prenatal screening techniques and its applications in prenatal screening.

NIPT genetic test has sensitivity of more than 99.9% but is a screening test. It is necessary to confirm the high risk results from the test by additional Invasive Prenatal diagnostic tests such as FISH/ Karyotype or Microarray. Non-Invasive Prenatal Testing is a blood test taken from the mother during pregnancy that uses DNA technology to evaluate accurately whether a baby has a high chance of a certain chromosomal condition.