A real story about how genetic testing can turn around hope!
How many of you had not been surprised until either your mom, dad, siblings, or nephews were diagnosed with an inherited disease you never heard of? Did that make you start to wonder about the impact on you and how little you had known about your family history? This will be extremely hard for adopted kids to have a full picture of where they are at when they get to the age to start a family. What disease or defective gene do I carry that would potentially be passed to my babies?
Thanks to modern genetic sequencing technology, all these questions can be answered. We would love to share with you how genetic testing combined with IVF can help a Fabry Disease mom eliminate carrier embryos and identify low-risk embryos.
What is Fabry disease?
Fabry disease is a significant genetic condition resulting in life-threatening heart and kidney issues. It’s a chronic illness that becomes worse over time. Symptoms may appear as early as childhood (classic form) or as late as middle adulthood (atypical type). Males have more severe symptoms than females.
Risks in female and male embryos?
Fabry disease is a chronic condition that worsens with time. With age, symptoms and the chance of major consequences worsen. A newborn girl usually inherits an X chromosome from her father. This indicates that a Fabry disease patient will always pass a faulty gene to his daughter, but never to his son. Women exclusively pass on an X chromosome to their children, whether boys or girls. Males with typical Fabry disease live in their late 50s on average. Females with the condition survive well into their seventies.
The couple could almost have started the frozen embryo transfer with any one of the euploid embryos. Any one of the euploid embryos selected to be transferred could be affected by Fabry disease. After almost two weeks of waiting for the result since the couple submitted their home-collected saliva samples to Myriad, the Myriad screening revealed that the wife carried Fabry disease with a 50% risk. Both the husband and wife were shocked, disappointed, frustrated, and depressed as they expected a positive result. The wife had no idea that she was a carrier of the disease since she didn’t know any of her family members who had Fabry disease before.
Demographic of Fabry disease?
One in every 40,000 males is thought to be affected with type 1 classic Fabry disease. However, the type 2 later-onset phenotype is 3-10 times more common than the type 1 phenotype and can occur as frequently as 1 in 1,500 to 4,000 males in some communities (Spada 2006, Hwu 2009, Chien 2012).
Fabry disease is a hereditary condition. Consult a genetic counselor if you have the faulty gene that causes Fabry disease. A specialist can review your alternatives and explain your possibilities of passing the gene on to your children. Aside from Fabry disease, other disorders, on the other hand, may pass mutated genetic elements to the embryos.
A Case of IVF Mom with Fabry disease
In the case we are going to share today, the egg retrieval of her IVF process was extremely successful, and it ended up getting a handful of euploid embryos from the first round of the egg retrieval cycle.
The doctor was happy and advised the patient to proceed to the frozen embryo transfer after the PGT-A results come out. However, the patient’s Myriad foresight screening from both partners just arrived in time, it showed wife is a carrier of Fabry disease.
The married couple insisted on waiting for the PGT-M results before embryo transfer. It took two weeks for the probe to be set up using genetic materials. It took another 16 calendar days to run the probe. They got three embryos with less risk. How happy the couples are now! If they did not do the screening, they would not know that their wife is a carrier of a high-productive-risk disease. If they did not insist on running the PGT-M test, they could use one of the affected EUPLOID EMBRYOS, though the number of chromosomes is correct.
It is essential to consult your doctor and order the right tests ahead of time. It is recommended to have the carrier test done even before you start your egg retrieval process. Then you can review the report with your doctor and genetic counselor about the subsequent tests you may need. If you wait until you have your egg retrieval completed, it may be too late for the lab to set up the PGT-M test that suits you.
For a comprehensive guide on how to Choose the Right Genetic Tests during a Woman’s IVF journey, please click here for our previous blog.
The Terminology You Need to Know:
EUPLOID EMBRYOS
Embryologists seek euploid embryos with 46 chromosomes in 23 pairs and are chromosomally normal. Their objective is to transplant one euploid embryo with the highest chance of developing into a healthy child.
ANEUPLOID EMBRYOS
Aneuploid embryos, which lack the proper number of chromosomes, are more likely to result in miscarriages, birth abnormalities, and IVF failure. One or more chromosomes may be duplicated or absent. The presence of an additional chromosome is what defines trisomy. Monosomy refers to the absence of a chromosome. Aneuploid embryos or aneuploidy are seen in Down Syndrome (Trisomy 21) and Turner Syndrome (where an x chromosome is absent.)
PGT-A
Preimplantation Genetic Testing for Aneuploidy, formerly known as PGS. PGT-A is a chromosomal count to identify embryos that are capable of normal development. Your doctor will order this additional test for you if it is indicated.
PGT-M
Preimplantation Genetic Testing for “Monogenic” disorders, formerly known as PGD. PGT-M is the genetic test performed on embryos for a specific genetic condition.
“Probe” Development for PGT-M Test
Set Up PGT-M is technically challenging because the lab is testing only a very few cells that are biopsied from a tiny embryo. A customized test must be created, called a “probe.” To create the probe, DNA samples are needed from you and other family members. This may seem redundant if you’ve had a lot of blood work already, but it is not.
To make the diagnosis, the scientists need to assess genetic “markers” linked to the specific gene change that will help increase the accuracy of the test. The genetic markers don’t mean anything to your health and have not been previously assessed by any genetic testing you might have had. The lab will also need DNA samples from other key family members. These samples from family members can be either blood samples or cheek swabs. Your genetic counselor will review your family history with you to determine who will be the most appropriate family member to provide DNA samples.
When to order the genetic tests in the IVF process?
IVF involves extracting mature egg cells and fertilizing them with sperm in a laboratory. After fertilization, the fertilized egg (embryo) or eggs (embryos) are transferred to the uterus for continued development.
First, you must take medicine that causes many of your eggs to develop and become fertile. The doctor then retrieves your eggs from your body and combines them with sperm in a lab to aid sperm fertilization of the eggs. They will then implant one or more fertilized eggs (embryos) into your uterus. Whether any of the embryos attach to the lining of your uterus, you will become pregnant.
If you have ordered the genetic screening tests for carrier risks and have discussed the results with your doctors about whether there is a certain genetic disease you or your spouse or a combination of both of you would pose a high risk to your babies, you will want to have your doctor order the PGT-M test as soon as you can. This will give the lab sufficient time to start the probe set-up for PGT-M.
There are two reasons why PGT-M is not preferred over PGT-A:
- Patients haven’t ordered the screening test so they don’t know what genetic disease they might have. Fabry disease or Fragile X syndrome are examples of diseases that will have a higher chance of passing to your babies. Myriad foresight screening is a popular test some doctors would recommend. It can screen for more than 200 inherited diseases. It usually takes 2 weeks to have the results reported.
- Once you have your screening report ready, you will better understand whether you need a PGT-M test or not. The right time to order the PGT-M test is before your egg retrieval is done. That will be the latest most doctor would recommend. Then your embryologists will be able to prepare the samples taken from your embryos to send to the lab for both PGT-M and PGT-A results at one time. You may always choose to have the PGT-A test since a chromosomally normal embryo will be most likely to contribute to a successful pregnancy and live birth. Remember PGT-A and PGT-M each test different things. The purpose of PGT-A is to detect embryos with chromosomal abnormalities that may impact an embryo by chance. In addition, PGT-M aims to help prevent certain illnesses or disorders from being passed on from parent to kid.
We have published a blog on how to Choose the Right Genetic Tests during a Woman’s IVF journey, please click here to review.
Other Risks Associated with IVF
IVF is a lengthy process with several phases that take many months to finish. It can succeed on the first attempt in some cases, but many individuals require more than one round of IVF to become pregnant. IVF will almost certainly enhance your chances of getting pregnant if you’re suffering fertility issues, but there’s no guarantee – everyone’s body is different, and IVF won’t work for everyone.
Infertility can be treated with IVF in the following patients:
- Fallopian tubes that be blocked or damaged
- Reduced sperm count or sperm motility are examples of male factor infertility.
- Ovulation problems, early ovarian failure, and uterine fibroids in women
- Individuals with a genetic condition Women who had their fallopian tubes removed.
- Unexplained fertility.
The following are some of the risks associated with IVF:
- Multiple births.
You’re more inclined to have several children if you have more than one embryo implanted in your uterus through IVF. Compared to a single-fetal pregnancy, having multiple fetuses increases the risk of early labor and low birth weight.
Two of the most prevalent issues are premature delivery and low birth weight. According to studies, IVF raises the chances of a baby being delivered preterm or with low birth weight by a small amount.
- Ovarian hyperstimulation syndrome.
Using injectable fertility drugs like human chorionic gonadotropin (HCG) to enhance ovulation can lead to ovarian hyperstimulation syndrome, which produces swollen and painful ovaries.
Mild stomach pain, bloating, nausea, vomiting, and diarrhea are all frequent symptoms that continue for a week. However, if you get pregnant, your symptoms may linger for several weeks. Rarely, a more severe type of ovarian hyperstimulation syndrome can occur, resulting in rapid weight gain and shortness of breath.
- Miscarriage
The rates of miscarriage for a woman who conceives through IVF with fresh embryos are comparable to those for women who conceive naturally, ranging from 15% to 25%; however, the rate rises with maternal age.
- Complications of the egg retrieval process
There is a danger of bleeding, infection, or harm to the gut, bladder, or blood artery while obtaining eggs using an aspirating needle. In addition, sedation and general anesthesia, if used, come with their own set of dangers.
- Ectopic pregnancy
An ectopic pregnancy occurs when an implant is placed outside of the uterus, generally in the fallopian tube, in around 2% to 5% of IVF women.
- Birth defects.
No matter how the kid is conceived, the mother’s age is the greatest risk factor in developing birth abnormalities. More study is needed to see if kids conceived through IVF are more likely to have specific birth abnormalities.
- Cancer
While some early studies suggested a link between egg-stimulating drugs and a certain type of ovarian tumor development, more recent studies contradict these findings. Breast, endometrial, cervical, or ovarian cancer risk does not significantly increase after IVF.
- Stress
IVF may be costly, physically demanding, and emotionally stressful. However, counselors, family, and friends can support you and your partner as you navigate the ups and downs of infertility treatment.
If you feel overwhelmed during the IVF process, here are some of the best therapy programs for you to consider. Therapy is frequently thought to be reserved for people who have apparent mental health issues. Mental health specialists, on the other hand, are trained to deal with a wide range of concerns, including relationship troubles, job advice, and major life transitions. A professional can assist you in better understanding and preparing for the obstacles you will face.
Overview of Best Therapy Programs for help in managing mental stress
1. Theraytribe
The Tribe is a free mental health support group where members may securely connect, share experiences, and advise, as part of their long-standing dedication to wellbeing. General Wellness, Depression, Anxiety, Addiction, Marriage and Family Issues, OCD, LGBT, Teens, and HIV/AIDS are among the topics covered in our online support groups. Individual Tribe members also have access to the most cutting-edge social networking technologies, which have been carefully tuned to create an encouraging atmosphere. Mood Mapping, Wellness Activities, Kudos, Rewards, Member Blogging, Private Forums, Chat Rooms, and more are just a few of our innovative wellness features.
2. Online Therapy
Online Therapy is a Cognitive Behavioral Therapy program that’s administered over the internet. The therapists are all certified. Costs range from around $32 per week to about $64 per week. With some plans, customers also get an online toolbox that includes worksheets, live chats, a messaging system where customers can chat with their therapists, a journal, an activity plan, and even yoga. Customers can post any questions they have to a certified therapist and get a response either through text or voice messages.
Use this link to get a 10% discount if you choose to sign up with a plan. Online Therapy is recommended on CBS
3. Panic Away
Panic Away is one of the most successful panic attack treatment programs on the market. They have helped over 150,000 people transform their lives. Their program is backed by a 100% no-risk guarantee including access to the Panic Away audios, videos, ebooks, and one on one personalized coaching. If you suspect you might have experienced a panic attack, follow this link for an attack and anxiety test. They also have free audio to download and paid membership for sign-up.
References:
https://www.mayoclinic.org/tests-procedures/in-vitro-fertilization/about/pac-20384716
https://www.webmd.com/infertility-and-reproduction/guide/in-vitro-fertilization
https://www.nhs.uk/conditions/ivf/https://www.igenomix.net/genetic-solutions/
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