Dr. Angeline Beltsos, MD of Vios Fertility Institute reveals another important component of fertility — genetic code. Here’s what you need to know.
Fertility Logia: genetic code
One egg and one sperm create a new person with genetic code outlining who we are and who we will become. Human features are in genetic recipes that come half from the egg and half from the sperm. There can, however, be mistakes in the code that get passed on to the child and in recessive traits, as long as one normal part gets passed on, the abnormal one may be overshadowed. In order for the abnormality to show itself, both the egg and sperm would have to contribute the abnormal gene.
There are special genetic evaluations that can be checked with a simple blood test. Some abnormalities run in certain ethnic backgrounds. In Greeks, the Thalassemia trait is more common. Here’s an example. If Yianni has only one abnormal gene, then he is slightly anemic since his blood cell is mildly abnormal — it’s usually not a big deal. If someone has gotten the abnormal gene from both Mom and Dad, then that person can be afflicted with Thalassemia. When it passed on as Thalassemia major, the child is at risk to not survive past early adulthood.
Many conditions or diseases are passed on to children through generations. A simple, yet important blood assay can detect these genetic diseases. All women who want to have a baby should be offered testing of their genetic code called “carrier screening.”
Up to half of pregnancies are unplanned. Therefore testing, when going in for pap smears or birth control pills, is also a consideration. At Vios Fertility, we offer carrier screening to couples trying to conceive, which may help to identify any abnormalities and optimize the chance of having a healthy baby.
Therefore, whether you are on the pill and someday might want to have a baby, or if you and your partner are trying to get pregnant, make sure to have this testing done. It’s very important for you to know if you carry any recessive traits.
IVF + PGD: “trick” the genetic code
In the event that you and your partner both carry the same genetic mutation, there is typically a 25% chance the baby could inherit it. There is a way to help avoid having a baby with the severe form of that condition. One option is to consider In Vitro Fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD). Couples can screen out abnormalities like Thalassemia by identifying which embryos are affected. Without testing, many couples find out that they carry the disease when it’s too late — the baby is born with it. Unfortunately, some of these conditions result in not surviving into adulthood.
Now, the American College of OB/GYN (ACOG) recommends that screening be offered to all women for these conditions… and not just depending on their ethnic background. Studies show that most people in the U.S. do not know their ethnic background and therefore asking that does not help decipher who is at risk.
Last month, the ACOG announced in a press release that it recommends offering additional carrier screening to all women, regardless of ethnicity or family history. The two new Committee Opinions are published in the March 2017 issue of Obstetrics and Gynecology.
- Carrier Screening in the Age of Genomic Medicine #690
- Carrier Screening for Genetic Conditions #691
- Check Acog.org/CarrierScreening for more info
In the past, specific ethnicity was the basis for the testing and now these two new Committee Opinions go beyond previous thoughts to broaden who should be tested and for what. The new opinions recommend that the doctor have a standard approach ethnic-specific, pan-ethnic or expanded carrier screening.
It includes Cystic Fibrosis (a condition that can make it hard to breathe and affects the lung as well as the gut at times), Spinal Muscular Atrophy and a complete blood count for hemoglobinopathy like Thalassemia.
Dr. Joseph Biggio, Director of Maternal Fetal Medicine at the University of Alabama Birmingham and author of the Committee Opinion, spoke about the importance of this testing,
“A growing number of Americans are also of mixed or uncertain ethnic backgrounds, which means we may not identify some people who are at risk of passing genetic conditions to their children when we follow ethnic-based recommendations.”
The updated standards also discuss expanded carrier screening, which tests for up to several hundred conditions simultaneously.
Ask for the test
Ask your doctor for this test. Based also on family history and personal values, the health care team as well as genetic counselors can counsel women and their reproductive partners about their options. Furthermore, if someone tests positive for a disease, their family members should also be aware so that they might also tested. They’re at risk for carrying the condition as well.
Deciphering the genetic code
The advent of genetic testing is transforming the medical world. DNA testing identifies who is at risk for certain problems, what medicine is best for high blood pressure, which chemotherapy is best for treating cancer, etc. Each person is unique. Understanding our DNA may allow for clarity but also may create Pandora’s Box of information overload. We will see much more DNA testing in medicine to come, so fasten your seatbelt. In the meantime, have your carrier screening performed to be proactive and take charge of your future children’s health.
“Natural forces within us are the true healers of disease.” ~ Hippocrates
Angeline N. Beltsos, MD is CEO and Medical Director of Vios Fertility Institute. She is board certified in Obstetrics and Gynecology and in Reproductive Endocrinology and Infertility (REI), practicing medicine since 1991. Dr. Beltsos is also the Clinical Research Division Director of Vios and participates in a number of research projects and scientific publications. She has received numerous awards in teaching and has been honored as “Top Doctor” from Castle Connelly for several years. She is a popular speaker, both nationally and internationally, and a frequent media resource on the topic of infertility. She is the executive chairperson for the Midwest Reproductive Symposium International, an international conference of fertility experts. Dr. Beltsos is also a contributor to Thrive Global.
As the REI Division Education Director for the Obstetrics and Gynecology residency programs of Illinois Masonic Medical Center, Lutheran General Hospital, and St. Joseph’s Hospital Chicago, Dr. Beltsos helps educate future OB/GYN doctors. She is a Clinical Assistant Professor for the Department of Obstetrics and Gynecology at University of Illinois at Chicago.