If you don’t have a family history of an inherited genetic condition, then there is a very low risk that your child will inherit a genetic disorder. However, most conditions associated with abnormalities in either the structure or number of chromosomes, like Down syndrome (trisomy 21), oftentimes occur randomly — unrelated to the parents’ health status. These types of conditions carry the same risks for healthy couples, with the exception of women over the age of 35, who have a greater risk of having a child with certain chromosomal abnormalities.
Screening tests like noninvasive prenatal testing (NIPT) are an advancement in medical technology that gives expecting parents and their obstetrician more information about the health of the developing child. NIPT screens for chromosomal disorders early on in pregnancy by analyzing placental DNA that circulates in the mother’s blood.
NIPT is not a diagnostic test, meaning that the results do not indicate whether your child in fact has a chromosomal abnormality or not. The results from an NIPT reveal the risk that your child may have a chromosomal abnormality.
How Do Chromosomal Abnormalities Occur?
Meiosis: Meiosis is the division and growth of new sex cells (egg and sperm cells) when they are first being produced by the body. Each sex cell has 23 chromosomes. When a sperm cell fertilizes an egg cell, they form a single cell, called a zygote, that has 46 chromosomes. The zygote is what develops into a fetus and then a baby. Sometimes, errors can occur during meiosis that affect the number or structure of certain chromosomes in the new sex cell. When the affected cell is fertilized, the chromosomal abnormality is passed on to the child and is present in all cells of the body.
Mitosis: Mitosis is the division and growth of the fertilized cell (zygote) that then becomes the baby. Mitosis is responsible for the growth and development of the baby and even continues throughout our entire lifetime to replace cells throughout the body. Sometimes, an error in mitosis during the pregnancy can affect the number or structure of certain chromosomes. When this happens, the abnormality is duplicated in some of the cells of the body, but not all of them.
Benefits of NIPT For Healthy Families
Chromosomal abnormalities occur randomly, and oftentimes without family history of a disorder associated with certain abnormalities. The main benefit of having NIPT during pregnancy is that this test provides expecting parents with information that can help them when making decisions throughout the pregnancy. For example, if an NIPT shows that there is a high risk that the child may have a chromosomal abnormality, you can choose to continue with prenatal diagnostic testing or monitor the health of your baby closely with your doctor throughout the remainder of your pregnancy. This information can also help you prepare to give your child the care that he/she may need immediately after delivery as well as the care and attention he/she may need to foster proper growth and development. Furthermore, noninvasive prenatal testing poses no risk of miscarriage and no risk to the health of the mother or the fetus.
Are You Interested in Learning More About Noninvasive Prenatal Testing?
Today, noninvasive prenatal testing is offered to all pregnant women. But, as it is an optional test, whether or not you want to have it is your decision. If you have questions regarding how the test works, talk to your doctor or meet with a genetic counselor. In order to make informed decisions, it’s important to learn as much as you can.
SOURCES:
https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02126
https://ghr.nlm.nih.gov/primer/inheritance/chromosomalinheritance
https://health.clevelandclinic.org/prenatal-testing-do-you-know-the-benefits-and-limits/
https://learn.genetics.utah.edu/content/basics/diagnose/
http://www.dph.illinois.gov/sites/default/files/publications/factsheet-p-nipt-042716.pdf
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html