A Helpful Form to Prepare For Preconception Genetic Testing

Genetic testing prior to conception can easily identify known genetic risks prior to conception. This is important because many of the inherited diseases which can be fatal in childhood can now be easily avoided, if you know your risks and the options for conception without passing along fatal genes.

Some of these diseases include:

Cystic Fibrosis

Cystic fibrosis is a life-threatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe. In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.

Info from the Cystic Fibrosis Foundation

Tay-Sachs

A baby with Tay-Sachs disease appears healthy at birth, and seems to be developing normally for a few months. Symptoms generally appear by six months of age. While symptoms vary from one child to the next, there is always a slowing down of development. Gradually, Tay-Sachs children lose motor skills and mental functions. Over time, the child becomes blind, deaf, mentally retarded, paralyzed and non responsive to the environment. Tay-Sachs children usually die by age five.

Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). Hex-A is needed for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life.

Info from National Tay-Sachs & Allied Diseases

Sickle Cell Disease

Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell disease have red blood cells that contain mostly hemoglobin* S, an abnormal type of hemoglobin. Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels.

When sickle-shaped cells block small blood vessels, less blood can each that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease.

Info from Sickle Cell Disease Association of America

These diseases are inherited if both parents carry the recessive gene associated with that specific disease. As a review from freshman year biology class, here is a refresher on Punnett Squares:

If both parents are carriers, they will show no symptoms of the disease. Each time they naturally conceive a child that baby will have the following risks:

• 25% chance of being "RR," meaning they inherited both dominant copies of the gene from their parents. They will have 0% chance of passing along that trait to their future offspring. 
• 50% chance of being "Rr," meaning they inherited one copy of the recessive trait. While these children will not develop the disease, they will have a 50% chance of passing this trait along to their offspring. 
• 25% chance of being "rr," meaning they inherited the disease. What this means is different for each illness. Some illnesses (e.g., Tay-Sachs, Canavan Disease) are almost always fatal in infancy/toddlerhood. Others (e.g., Cystic Fibrosis) may lead to an overall shortened lifespan, but with proper treatment and management the individual often survives to early adulthood. 

The most important step you can take prior to conception is knowing your risks and possibly requesting testing prior to conception. 

Here is a form I created to help you determine which disease(s) you may be at risk for -- this form should not take the place of medical advice, but should be used as a beginning step in discussing your risk factors with your gynecologist prior to trying to conceive.

Click here to access the form

Best of luck on your journey to conceiving a healthy baby!

Pre-Conception Genetic Testing (Part 2)

The results are in! After a short wait, we received a 7-page report detailing C's genetic testing results (see part 1 here).

Here's a copy of one page of the report we received with identifying information redacted:

You can see under "clinical notes" that we requested the screen because C's family has a known history of Tay-Sachs. C ended up not being a carrier of Tay-Sachs, but is a carrier for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia.

The recessive trait C carries is the "non-classic" type, which is the least severe genetic strain. Affected children would produce excess androgen, which may put them at risk of decreased fertility (and this would only be the case if A also carries the exact same strain, which is rare). This disease does not have major health implications and is non-fatal. Therefore, we would not seek the cost of pre-implantation testing and IVF to avoid the possibility of children inheriting this trait -- a choice we would have made if we were both carriers of diseases with high risk of morbidity and mortality, such as Tay Sachs or Cystic Fibrosis.

We were very interested to read all of the disorders C was actually tested for. Targeted DNA mutation analysis was used to simultaneously determine the genotype of 394 variants associated with 100 diseases.

In terms of next steps, this test basically served as a "green light" to conceive when we are ready. We both feel relieved and very grateful that C is not a carrier for a fatal genetic disease.

Based on our experience with JScreen, we highly recommend them for pre-conception genetic testing!

Chapter 1: Preeclampsia, Epigenetics, Stress, and Flu Shots

I'm finally getting the chance to start off the summer reading series with a review of Chapter 1. If you're just joining and would like a chance to read the book, I placed a link to purchase it at the bottom of this post! 

Chapter 1 of Dr. Lu's book gave a general overview of what to expect in the book! Starting off the chapter, the reader learned about how preeclampsia develops and what it means in terms of health of the mother and viability of placenta. I was interested in learning more about preeclampsia (formerly known as toxemia) as I know a few mothers who suffered from it and had to deliver babies early via emergency c-section. I realized I did not know what symptoms of preeclamsia were beyond elevated blood pressure, and the only symptom mentioned in the chapter by Dr. Lu in the chapter was high blood pressure.

I did some reading on the Preeclampsia Foundation website to learn more about signs and symptoms of the condition. I've detailed some of the symptoms below:

• High Blood Pressure: "High blood pressure is traditionally defined as blood pressure of 140/90 or greater, measured on two separate occasions six hours apart." I was interested in seeing if the website had anything to say about pre-pregnancy planning, and found the following useful... "Know your blood pressure prior to pregnancy, especially if it's normally considered low.  Ask, "What is my blood pressure?" during each prenatal visit with your healthcare provider."
• Protein in your Urine (Proteinuria): Readings of 1+ or greater can be indicative of preeclampsia developing, even when blood pressure is within the normal range. I did not know that you can purchase test strips to monitor protein in the urine at home, if you're concerned about develop preeclampsia. 
• Swelling: From the website, it sounds like mild swelling (particularly in the feet) is expected as a common occurrence in pregnancy. Swelling consistent with preeclampsia appears to often present as excessive facial swelling or pitting edema. Pitting edema is identified by swelling where an indentation from pressing with a finger "holds" for a few seconds, instead of immediately returning to its normal position.
• Headaches: Painful, light-sensitive headaches are a cause for concern. Headaches accompanied by any changes in vision are immediate cause for concern. Any sudden changes in vision (seeing "auras," sensitivity to light, or blurry vision/seeing spots) should be immediately evaluated.
• Nausea/Vomiting: GI problems are common in early pregnancy, but sudden onset of nausea and vomiting in the 2nd or 3rd trimester is not. It's recommended women who experience that have their blood pressure and urine checked immediately.
• Pain in the Liver Area: This can either occur around the liver directly, or as "referred pain" in the shoulder or lower back. 
• Sudden and excessive weight gain: Defined as 2+ pounds within a week. Prior to pregnancy, it is helpful to maintain a BMI of 30 or less, as obesity increases the risk of developing preeclampsia. Drinking an adequate amount of water is also important.
• Sudden shortness of breath: May be indicative of fluid accumulating in the lungs.

As highlighted by Dr. Lu, these symptoms cannot be ignored because preeclampsia can quickly lead to life-threatening emergencies or even maternal death. The Preeclampsia Foundation noted that "by conservative estimates, these disorders are responsible for 76,000 maternal and 500,000 infant deaths each year."

What can be done pre-conception to decrease risk factors of preeclampsia? Adopt a healthy weight-management routine (if your BMI is above 30), reduce sodium intake, and know your typical blood pressure. 

Overall, the chapter made an excellent case for why it was so important to attend to several variables of maternal health prior to conception. Dr. Lu pointed out that many women don't see a doctor or even know they are pregnant until a few weeks after conception. At that point, the baby already has developed the beginnings of a cardiovascular system and the neural tube (which will later develop into the brain and spinal cord). 

Another important factor Dr. Lu briefly highlighted was epigenetics and maternal stress, and how this contributes to the overall long-term health of the fetus. For example, women who experienced influenza during pregnancy increased the risk three-fold that their baby would develop autism or schizophrenia later in life! 

Questions to reflect on in the comments:What did you think about Paula's decision to wait to have a c-section despite having serious symptoms of preeclampsia? Are there any pre-conception lifestyle changes you have thought about implementing to help prevent pre-eclampsia?

For myself, I have been trying for some time now to reduce sodium in my diet, but will be focusing more seriously on this goal as I get closer to TTC (trying to conceive). I also strongly agree with Dr. Lu's conclusions about the negative impacts of stress on the fetus; I'm working on mindfulness and other stress reduction techniques I hope to reflect on in future posts!

Want to join in the reading series but haven't purchased the book yet? Click the image of the cover below to purchase it! 

Get Ready to Get Pregnant: Your Complete Prepregnancy Guide to Making a Smart and Healthy Baby

Summer Reading

We have selected the first book for our summer reading series! We will be reviewing and discussing several chapters from Get Ready to Get Pregnant over the next few months.

This book was chosen because of it's comprehensive overview of a variety of topics, including pre-conception genetic testing, environmental health, and stress resilience. We hope you will join us in reading and provide us feedback on what you think of the book. We will be actively working to implement the "10 Concrete Steps" offered in each chapter, with the hope that our journey can help guide you in implementing the suggestions in the book.

Look for a post next week reviewing the first chapter!