All about the prenatal screening and diagnosis

Infertility affects millions Americans and issues are shared equally between men and women. Not all infertility issues can be diagnosed but known various medical conditions, diseases and environmental factors all play a role. With that, thousands of want-to-be parents are connecting with IVF clinics and Reproductive Endocrinologists to make their parenting dreams a reality.

With the birth of the first IVF baby, Louise Joy Brown, born July 25, 1978, the science behind IVF and assisted reproductive technologies have changed the face of modern medicine. ( Check out this chart for some amazing statistics on IVF) So, with all these medical advances, what technology exists to increase the chances for a healthy baby? What tests are available and what do the results tell me about my baby? Can I afford all this testing? Lots of questions surround genetic testing of embryos so let's get down to brass tacks. 

What is PGS?
Pre-Implantation Genetic Screening (PGS), is an IVF procedure designed to examine your embryos for chromosomal abnormalities. An embryo biopsy is taken either at day 3 or day 5 and all 24 chromosomes are examined—the 22 non-sex chromosomes plus the two sex chromosomes (X & Y) in time for your embryo transfer. By "mapping" the genetics of your embryo, a lot can be determined about the health of the child that will be born from each embryo. An example of an anomaly found in this test would be an extra copy of the 21st chromosome and would be labeled as Down Syndrome. ( With PGS, you are able to detect the sex of the embryo as well. 

What is the cost of PGS?
While the cost of testing will vary from doctor to doctor and clinic to clinic, you can expect to pay between $3000-$5000 to get your embryos tested. With the security that accompanies the results, this test is becoming more commonly used, regardless of the price tag.   

Is PGS the only way to test for Down Syndrome and other chromosomal anomalies?
PGS is the only way to to test for these discrepancies prior to implanting your embryo. However, there are other tests, performed by your OBGYN during pregnancy that can also alert parents to potential abnormalities.

  1. Amniocentesis can be performed at about 15 weeks gestation. 
  2. Chorionic Villus Sampling (CVS) can be done at approximately 11-12 weeks gestation.
  3. NIPT Non-Invasive Prenatal Testing from maternal serum can be performed at approximately 10 weeks.

If there is no PGS performed, it is likely that one of these other three options will advised by your OBGYN during the course of pregnancy.

Whether you are using these services for yourself or for a surrogate journey, understanding the options available for testing can help you make an informed decision about what is best for you and your child. 

Sincerest gratitude to the Northern California Fertility Medical Center for their input and expertise with this blog.