Any parent-to-be wants to provide their child with a healthy life. That is where prenatal genetic tests can help. There are a wide variety of genetic tests available, such as:
- Diagnostic Testing: diagnoses a condition or disease
- Carrier Screening: tests parents-to-be to determine their risk of having a child with a recessive disorder, such as cystic fibrosis or Tay-Sachs disease
- Aneuploidy Screening: screens for chromosomal abnormalities
These types of tests are offered at various points pre-conception or during pregnancy to provide parents with information to make the most informed decisions regarding their child’s health. Parents can talk with a genetic counselor to quantify risk and help determine the best course of action for them to take with family planning or to plan for intervention early in a baby’s life, if needed. In this way, preconception and prenatal genetic testing can improve a baby’s quality of life.
In the rare instance that both members of a couple are carriers, they can opt to undergo preimplantation genetic testing and in-vitro fertilization, if they learn this information prior to pregnancy. Embryos are then screened for the genetic condition that the partners carry and, through in-vitro fertilization, only embryos without the condition are implanted into the uterus for pregnancy. Preimplantation genetic testing ultimately lowers the chance of the genetic transmission of a specific abnormality, further reducing the risk of miscarriage and the number of embryo transfers required to conceive, if caused by that specific abnormality.
Genetic testing does not stop once the baby is born. Newborn screening is done after birth to identify childhood onset conditions. Prior to a baby being discharged from the hospital, a few drops of blood are taken from the baby’s heel and are screened for endocrine, metabolic, and genetic disorders, as well as congenital heart defects. The goal is to pick up on conditions early in a baby’s life, as early detection followed by intervention when a diagnosis is received can be crucial for a child to reach full potential. By having your newborn screened, one can be proactive and get their child proper treatment or medical attention sooner for an otherwise yet to be known condition.
Resources:
- https://medlineplus.gov/genetics/understanding/testing/uses/
- https://www.cdc.gov/newbornscreening/index.html
- https://www.bmhvt.org/pros-and-cons-of-genetic-screening-during-pregnancy/
- https://www.statnews.com/2016/02/12/consumers-arent-wild-genetic-testing-doctors/
- https://pubmed.ncbi.nlm.nih.gov/29039978/
Written by Lilli Arbetter
