Everything You Need to Know: Non-Invasive Prenatal Screening

Non-invasive prenatal screening (NIPS) is a simple blood test ordered by your healthcare provider and carries no increased risk of miscarriage. Join certified genetic counselor Melissa Strassberg, M.S., for an in-depth walkthrough of NIPS.

Learn more: https://www.invitae.com/en/individuals/reproductive-genetic-testing/non-invasive-prenatal-screening/

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When you're pregnant, genetic testing can provide valuable insights to help inform important health decisions for you and your baby. The purpose of noninvasive prenatal screening or NIPS is to learn the likelihood of your baby having specific chromosomal disorders.
NIPS, sometimes called noninvasive prenatal testing or NIPT, is a screening test, not a diagnostic test. This means it can only provide an estimate of a risk, not a definitive answer. NIPS evaluates pieces of DNA from the baby, placenta, and mother that are present in the bloodstream. This is called cell-free DNA and it's used to look for certain chromosomal disorders.

Chromosome disorders are caused by an extra or missing copy of certain chromosomes or parts of chromosomes. Let's start by talking a bit about chromosomes and why they're so important. Chromosomes are the structures in cells that contain our genetic information. Half of a baby's chromosomes come from the egg and the other half come from the sperm. We typically have 46 chromosomes in each cell, organized in 23 pairs.

For normal growth and development, a baby must receive the correct number of chromosomes from the egg and from the sperm. Sometimes an egg or a sperm has an extra or missing chromosome or piece of a chromosome, leading to a pregnancy with the incorrect amount of genetic information. This can cause a miscarriage or may interfere with normal growth and development.A common example of a chromosome disorder is Down syndrome, which is caused by having an extra copy of chromosome 21.

As women age, their eggs age along with them and are more than likely to have too many or too few chromosomes. Therefore, the chance of having a baby with abnormal chromosomes increases. This is referred to as maternal age related risk.

Chromosomal disorders most often occur randomly and cannot be prevented. All pregnancies have some chance for these disorders regardless of the mother's age and even if they do not run in the family. It's important to remember that the majority of pregnancies result in healthy babies.

NIPS is a safe way to screen for some of the most common chromosome disorders found in pregnancy as early as 10 weeks. From a simple blood draw, Invitae analyzes cell-free DNA from the mother, the baby, and the placenta present in her blood during pregnancy.

We use the cell free DNA to calculate the chance that a pregnancy has certain chromosomal disorders. Invitae NIPS screens for Down syndrome, which is caused by three copies of chromosome 21, trisomy 18 which is caused by three copies of chromosome 18 and trisomy 13, which is caused by three copies of chromosome 13.
NIPS can also estimate the risk for a baby to have extra or missing X or Y chromosomes, called sex chromosome disorders. Since the baby's sex is determined by the X and Y chromosomes, the results of this analysis will also tell you if your baby is female or male. Not everyone wishes to know this information during pregnancy, so sex chromosome analysis is optional. Please let your doctor know if you'd like to learn the sex of your baby.

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