Prenatal Testing for Cystic Fibrosis

Prenatal Testing for Cystic Fibrosis

Cystic fibrosis (CF) affects approximately 40,000 women, men, and children in the United States. Even though CF is found most frequently in Caucasians, it can affect people of any race.

A progressive disease that afflicts the lungs, pancreas, and other organs, CF has no cure and may lead to early death. In the past, children frequently died from complications of CF, but advances in treatments have allowed many to live healthy lives well into their adult years. 

Carrier screening and prenatal tests allow you to find out if you and your partner are carriers or if your child is at risk. At Noble Fertility Center in Manhattan’s Murray Hill neighborhood in New York City, Peter L. Chang, MD, and our entire team want you to have the healthiest baby possible. Here’s more about cystic fibrosis and why carrier screening or other tests might be right for you.

About cystic fibrosis

CF requires constant treatment and monitoring. If you have CF, your body can’t move chloride, a component of salt, to the surface of your cells. The cells use chloride to attract moisture to their mucus membranes. Without it, the cell — and the organs they comprise — develop thick, sticky mucus that impairs function.

For instance, mucus often develops in the lungs, making it difficult for CF patients to breathe. The mucus also traps pathogens, such as bacteria, and can lead to infections and respiratory failure. When you have CF, avoiding bacteria and viruses is extremely important.

Although CF is a genetic disorder, you could be a carrier but not have a family history of the disease. So could your partner. Both partners must be carriers of the CF mutation in order to pass it on to their child.

Carrier screening gives you choices

When you’re ready to become pregnant, even if you and your partner don’t have fertility problems, genetic screening alerts you ahead of time if you or your partner — or both — are carriers for genetic mutations, including CF. Carrier screenings can be done for more than 100 genetic disorders.

Any woman who’s pregnant or is considering pregnancy is usually offered screening for at least:

If either you or your partner have a history of CF in your family, it’s even more imperative that you’re both screened. If you haven’t yet become pregnant and you discover that both you and your partner are carriers for CF, you may decide to use in vitro fertilization (IVF) to become pregnant so you can undergo preimplantation genetic screening of your embryos.

Prenatal tests let you prepare

If you’re pregnant, a prenatal test for CF allows you and your partner to learn about the health of your baby. A positive test for CF gives you the information you need to make important decisions, including any preparations you might need to make to take care of a child with a serious illness.

Prenatal tests for CF can be accomplished either with amniocentesis, in which we use a needle to remove and test a small amount of amniotic fluid, or with chorionic villus sampling (CVS). In CVS, we remove a small amount of placental tissue, which we then test for the presence of CF mutations.

If you choose amniocentesis, we usually perform that test between 15 and 20 weeks of pregnancy. We usually do CVS between weeks 10 and 13. 

You can also screen embryos

At Noble Fertility Center, we offer preimplantation genetic screening and diagnosis (PGS and PGD) for CF and other genetic abnormalities. If you’ve already undergone pre-pregnancy carrier screening and you’ve discovered that both you and your partner are carriers for CF, we highly recommend PGS and PGD.

To screen embryos, you must undergo in vitro fertilization, in which we remove eggs from your ovaries and fertilize them in the lab with your partner’s sperm. Once the eggs are fertilized, we conduct PGS/PGD on the embryos. 

Because chromosomal abnormalities are the main reason for miscarriage in any pregnancy, PGS/PGD reduces your chance of miscarriage and increases the odds of a healthy baby.

If we identify embryos that have the CF mutation, or any other type of mutation, we don’t transfer them to your womb. We only implant healthy embryos free from genetic mutations. This gives you and your baby the best chance for an uneventful pregnancy, a healthy delivery, and a healthy life for your child.

To find out how to test for cystic fibrosis using PGS/PGD or carrier screening, contact us today at 925-230-9471. You can also click the “Book online” button to request a consultation.

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