About 10-25% of pregnancies end in miscarriage. It’s estimated that 40% to 75% of miscarriages are due to random genetic problems in the developing baby. One in eight couples will face infertility and may need to seek help from a fertility specialist in order to conceive. There is growing evidence that genetic abnormalities may be present in 10% of infertile females and 15% of males. For these couples, genetic testing can help identify the causes of infertility more successfully and increase the likelihood of a healthy pregnancy. There are different types of genetic testing that can be utilized that each provides different types of information.
State of the art carrier screening can be done through a simple blood test and can quickly determine whether you or your partner are carriers of a number of genetic disorders. The American College of Obstetrics recommends carrier screening for all women considering pregnancy and especially for those with a history of a hereditary disease – such as Tay-Sachs, spinal muscular atrophy, sickle cell anemia, cystic fibrosis, or Fragile X syndrome. Every human inherits two copies of each gene (passed down in their DNA) representing each parent. If you have one copy that is abnormal, combined with a normal copy from the other parent, you are a carrier that can potentially pass the abnormality on to your offspring. If your partner is also a carrier of that disorder, there is a 25% chance your offspring will have that disease. Having information prior to conception gives you the opportunity to make informed decisions and research your options.
Genetic testing can help us understand both infertility as well as miscarriage in both sexes. For men, there may be genetic reasons for a low or no sperm count, such as chromosome translocation or Cystic Fibrosis; and in women, premature ovarian failure from Fragile X syndrome. Thanks to genetic testing in both men and women, a couple’s DNA can be examined to understand gene changes that result in infertility, as both sexes are just as likely to play a role in fertility issues.
In vitro fertilization (IVF) provides opportunities for additional testing that would not be possible in natural conception. Couples who have been identified through genetic screening that have a higher probability of having an affected child and couples undergoing IVF may consider Preimplantation Genetic Testing. PGT-M (for monogenic/single gene defects) is done when there is a higher risk for a specific genetic mutation. Testing is done to determine if the embryos are unaffected if they carry the disorder or are affected by that disorder.
PGT-A (aneuploidy) is done by looking at the genetic material within the embryos. Embryos with an incorrect number of chromosomes are referred to as aneuploidy while embryos with the correct number of chromosomes are called euploidy. The risk of miscarriage is reduced when PGT- A screened embryos are used for transfer as genetic problems are the most common cause.
If you are having trouble conceiving, have had multiple miscarriages or just want more information about carrier screening and preimplantation genetic testing reach out to us. Please give us a call at 801-785-5100 to schedule a consultation with one of our experienced infertility specialists in Murray, Pleasant Grove, Ogden, or St. George, Utah.