Balanced Chromosome Rearrangements

By Jennifer Saucier

In around 1 in 20 couples who have had three or more miscarriages, one of the partners is found to carry a balanced chromosome rearrangement. Finding this out can be surprising, and you may have lots of questions about what this means and why it’s important to know. It is best to speak with a genetic counselor in person to learn more, but let’s cover the basics.

Normally, humans have 23 pairs of chromosomes for a total of 46 in each cell. When a person carries a balanced chromosome rearrangement, it means his or her chromosomes are arranged in a different manner than expected.

There are several types of balanced chromosome rearrangements:

A Reciprocal translocation is when a piece of one chromosome has switched places with a piece of another chromosome.
A Robertsonian translocation is when two chromosomes stick together; this means the carrier has 45 instead of 46 chromosomes.
An inversion is when a piece of a chromosome is flipped upside-down.

When a balanced chromosome rearrangement carrier decides to pursue pregnancy, the embryo may not inherit the correct amount of chromosome material. Having too little or too much chromosome material either causes miscarriage or results in a baby with birth defects. On average, about half of the pregnancies of a person carrying a balanced chromosome rearrangement will be lost in miscarriage.

There are several options if you or your partner carry a balanced rearrangement:

You may choose to conceive naturally. If the pregnancy continues past the first trimester, you may decide to have prenatal testing in the form of chorionic villus sampling (CVS) or amniocentesis to check the baby’s chromosomes.
You may choose to use either a sperm or egg donor.
Adoption can be considered.
Another option is In Vitro Fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD).

PGD is performed on a sample from an early embryo to find out its chromosome make-up. IVF with PGD allows you and your doctor to choose to transfer only embryos with the normal amount of chromosome material. This process may decrease the chance for miscarriage and increase the chance of having a successful pregnancy.

Many people may not know they carry a balanced chromosome rearrangement. If you and your partner have had repeated pregnancy losses, you should talk to your doctor about checking your chromosomes through a simple blood test called a karyotype.

For more information, explore our FAQs on the website, call 877-476-4743, or email info@natera.com.

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Pregnancy Loss – Why Me?

By Melissa Maisenbacher

Although most couples are blissfully unaware of the statistics surrounding miscarriage, pregnancy loss is actually quite common. In fact, 10-25% of recognized pregnancies end in miscarriage. After having a miscarriage, you may find yourself asking:

Why did I have a miscarriage? Why me?
How common is pregnancy loss? Why me?

There are many different reasons why miscarriage happens, but the most common cause is a chromosome abnormality such as an extra or missing chromosome. Chromosomes are the instruction manual for our bodies. For a baby to develop normally it needs to have exactly the right amount of chromosome material. Missing or extra chromosomes can cause the inability to become pregnant, miscarriage, or having a baby with a chromosome syndrome like Down syndrome.

Over half of all first trimester miscarriages are caused by chromosome abnormalities. This number may be closer to 75% or higher for women aged 35 years and over who have experienced more than one pregnancy loss. So the answer to the first “Why me?” might be a chromosome problem. Natera can help.

Pregnancy Loss – How Common is it?

After having a miscarriage, you may feel like this is just happening to you. But you are not alone. Miscarriage is far more common than most people think. Up to one in every four recognized pregnancies is lost in miscarriage.

Most women who experience a miscarriage go on to have a healthy pregnancy and never miscarry again. However, some women seem to be more prone to miscarriage than others. About five percent of fertile couples will experience two or more miscarriages.

Of note, the rate of miscarriage seems to be increasing. One reason for this may be awareness – you know you are pregnant earlier because of better home pregnancy tests. In the past, you may have thought you just had a late or a heavy period when, in fact, you actually had a very early miscarriage. Another reason may be that more women are conceiving later in life. This increases the risk of miscarriage. So the answer to the first “Why me?” might be because miscarriages happen all the time.

For more information about microarray genetic testing for miscarriage tissue, explore our FAQs on the website, call 877-476-4743, or emailinfo@natera.com.

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Preimplantation Genetic Diagnosis (PGD)

By Nina Wemmer

Bob and Mary had a child with Tay-Sachs disease who died at age 3. Tay-Sachs disease is a fatal, inherited condition that has no treatment. Following their son’s diagnosis, Bob and Mary learned that they are carriers of Tay-Sachs disease and have a 25% (1 in 4) chance of having another affected child in every pregnancy. As you can imagine, they felt helpless and were afraid to try for another pregnancy. Then they heard about Preimplantation Genetic Diagnosis (PGD).

PGD is a specialized test that helps people who are affected with, or are carriers of a certain genetic disorder, to have children without that condition. PGD can only be done if the couple is undergoing in vitro fertilization (IVF) to become pregnant. With IVF, a woman’s ovaries are stimulated to develop multiple eggs. These eggs are then removed and fertilized by the man’s sperm outside the body. When the embryos reach a certain size, one or more cells are removed and tested in a PGD laboratory for the genetic mutation(s) that are known to cause the disorder in the family.

Bob and Mary met with a local IVF doctor who told them to contact the PGD lab, Natera. Natera’s PGD testing looks at many genetic markers that surround the disease-causing mutation(s). This type of PGD test has highly accurate results. The couple spoke with one of Natera’s genetic counselors to discuss the PGD testing process. They learned that because Mary was 39 years old, she had a higher chance of chromosome abnormalities, such as Down syndrome, in pregnancy. The couple decided to test for extra or missing copies of all 24 chromosomes at the same time as testing for Tay-Sachs in the embryos. Once the PGD test was ready, the couple had their IVF cycle and the cells that were removed from the embryos were sent to Natera for testing while the embryos were cryopreserved and stored at the IVF clinic. The couple and their doctor used the test results to decide which embryo to thaw and transfer to Mary’s uterus. Thankfully, this embryo implanted and resulted in the couple’s healthy baby girl! Bob and Mary were so pleased with the accuracy of the results and the information and support they received from the Natera genetic counselor during the PGD process, they are now planning a 2nd cycle with the hope of growing their family.

Couples who want more information about this family planning option and details about Natera’s PGD testing can explore our FAQs on the website, call 877-476-4743, or email info@natera.com.

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Preimplantation Genetic Screening (PGS)

By Katrina Merrion

Preimplantation Genetic Screening (PGS) is used along with in vitro fertilization (IVF) to screen one or more cells of an embryo for the number of chromosomes. Chromosomes contain the genetic code that tells our bodies how to grow and develop. Normally, we have 23 pairs of chromosomes, one copy of each pair comes from our mother and the other copy from our father, for a total of 46 chromosomes in each cell. These include the numbered chromosomes (1-22) and the sex chromosomes (XX in females and XY in males). Thus, there are 24 different types of chromosomes in humans.

Having more or less than the normal 46 chromosomes is called a ‘chromosome abnormality’. This can also be called ‘aneuploidy’. These can occur by chance when an egg or sperm is formed. However, they happen more often as a woman ages.

Embryos with chromosome abnormalities usually do not implant or will result in early miscarriage. Less often, they can result in a later miscarriage, stillbirth, or the birth of a baby with a chromosome syndrome.

By testing embryos prior to transfer to the mother’s uterus, you and your IVF doctor can choose to transfer embryos most likely to have normal chromosomes. Therefore, you can choose embryos for transfer that are most likely to implant and least likely to miscarry as a result of a chromosome abnormality.

Natera’s PGS offers screening of all 24 chromosomes, and may be helpful to anyone who wants to improve their chances of having a successful IVF cycle. If you are going through IVF, 24-chromosome PGS may be especially helpful if you:

Are planning a single embryo transfer
Are a woman age 35 or older
Have had one or more IVF cycles that did not result in a baby
Have had two or more prior miscarriages
Have had a prior pregnancy or child with a chromosome abnormality

Natera’s PGS uses a SNP microarray and Natera’s Parental Support™ - a unique testing method which offers the most complete and accurate screen of all 24 chromosomes. With results typically greater than 99% accurate, it is a test both you and your doctor can depend on.

For more information about Natera’s 24-chromosome PGS, please explore our FAQs on the website, call 877-476-4743 or email info@natera.com.

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You’re Pregnant, Now What? – Five steps for the First Trimester

By Melissa Maisenbacher

Whether you’ve been waiting to see that elusive plus sign for months and months or the positive pregnancy test is a little bit of a shock – Congratulations! You’re at the on ramp for the road to Motherhood.  This might be your first trip down this road or you may be a frequent traveller, but either way the early weeks of pregnancy can be a bit overwhelming.  For those repeat travellers, some things may be very familiar and some things (like genetic testing and screening) may be quite different. 

To get your pregnancy off to a healthy start here are five tasks to focus on now.

  1. Pick a health care provider.  Some parents see their final destination as a hospital, others a birthing center and some an at home delivery.  Consider if your pregnancy is high risk, where you want to deliver, the type of provider you’d prefer and your insurance coverage.  Although most parents-to-be select Obstetricians, midwives are growing in popularity. 
  2. Set your budget. Babies are expensive.  Understanding your insurance coverage and your projected out of pocket costs is important to be certain you aren’t caught by surprise.
  3. Schedule your first appointment with your provider (see #1).  Appointment slots fill up fast!  Most providers will want to see you around 8 weeks of pregnancy but be sure to ask when you’re scheduling as sometimes earlier or later appointments are recommended.  During this first appointment you’re likely to get your due date and may even have an early ultrasound.
  4. Know your family history.  Ask your parents and other family members about any genetic abnormalities or diseases that run in your and your partner’s families.  On average each person is a carrier of 4 to 6 different recessive genetic diseases.  To find out more about your risk of having a child with a genetic disease consider a genetic carrier test, like Horizon and a non-invasive prenatal screen, like Panorama.
  5. Spread the News!  Share your joy with friends and family.  Because of the risk of miscarriage in the first trimester, many couples wait until after 12 weeks of pregnancy to start announcing their pregnancy.  Others can’t wait that long and share the news with close family and friends early on.

As you travel along the pregnancy highway, remember to enjoy the ride!

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22q: Empowering Families through Awareness and Early Diagnosis

By Jessica Chaperon

 While most of us in the genetic counseling community are familiar with the 22q11.2 deletion syndrome, I’m not sure that is necessarily true for the larger medical community and the general public. Because of this, I feel that it is my responsibility, as a genetic counselor, to spread awareness about 22q and encourage the testing and screening that make early diagnosis and intervention possible.

A Common Microdeletion – While historically, the incidence of 22q has been reported at approximately 1 in 2,500, recent literature suggests 22q may occur as frequently as approximately 1 in 1,0001. This discrepancy likely lies, in part, with the difficulty of diagnosing 22q due to the wide range of severity and clinical features.

Misdiagnosis/Failure to Diagnose – With 22q, we know that approximately 75% of affected pregnancies have a cardiac or other birth defect that is detectable by detailed ultrasound, which may prompt prenatal screening and early diagnosis. But, for those without obvious structural defects, work-up and diagnosis may not occur until delays are noted, sometimes at one to two years of age, if at all.

Building Relationships and Support Systems – Detection of 22q in the prenatal or neonatal stage allows families more time to prepare for what is to come; this is not just medically, but financially and emotionally as well. Healthcare providers, parents, siblings, and other family members alike may become involved in the adjustment and preparation period. In my experience, perhaps the most vital resources these families have are one another. Getting our patients in touch with support groups and other families going through similar situations can be supportive and empowering at the same time.

Intervention and Therapies – We know that early diagnosis and intervention may improve overall outcomes for children with 22q. Early diagnosis allows for anticipation of healthcare needs (i.e. prevention of hypocalcemia, cardiac monitoring, etc.) and enrollment in certain therapies that have been proven effective. Such interventions have been shown to lessen certain developmental delays and reduce the severity of intellectual disability. As genetic counselors, assisting families in achieving the best outcome is one of our ultimate goals.

The International 22q Foundation is a wonderful resource for healthcare providers and families. The Foundation’s website provides information, resources and access to support groups for families and healthcare providers. I feel strongly that the genetics community needs to use its knowledge to encourage others in related medical fields to increase awareness of 22q, so these families get the support and services they need, as early as possible. 

1Grati FR, et al. 2015. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9,500 pregnancies. Prenatal Diagnosis.

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3 Carrier Screening Developments Keeping Us on Our Toes

By Jennifer Saucier

In the last few years, the capabilities for genetic screening have increased dramatically, leaving genetic counselors like us scrambling to keep up on the latest developments. Some of these developments have been in direct response to the growing desire from our community for expanded carrier screening.

Partner Screening – One of the important aspects of carrier screening is making sure both partners are screened at the same time. Where there is an advancing pregnancy involved, it can really help cut down on anxiety to have answers – positive or negative – in a timely manner, especially when there are difficult decisions to be made.

Autosomal Recessive Conditions – Having both parents screened is particularly important when it comes to identifying autosomal recessive conditions. Even when only one parent is identified as a carrier, this information can be helpful to future generations or other family members, allowing these individuals to seek genetic counselors earlier in pregnancy or even before pregnancy.

Duchenne Muscular Dystrophy (DMD) –Affecting male children almost exclusively, carrier screening becomes an essential part of identifying this condition before birth. If a carrier patient goes unrecognized and a child is born with DMD, symptoms may not appear or be recognized until he is three to five years old. Early detection – prenatal detection- provides more time for us to direct patients to the resources and support groups that they and their child will need.

Almost all of us would likely agree that in an ideal world, patients would look into screening and meet with us before pregnancy. We also know the real world is nothing like our ideal world (yet). So, we have to get our message out any way we can, and hopefully it will bring our ideal a little bit closer to reality.  

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3 Traits of a Genetic Counselor

By Libby Valenti

Whether you’re “type A” or “type B,” as genetic counselors (GCs), we all have different personalities and work styles that suit this profession very well. We all are unique, but there are definitely common traits among us! Here are three defining qualities I’ve noticed that GCs tend to have:

  1. We love to be an expert resource: When I was in clinical practice, the vast majority of patients I talked to were pregnant, many of whom had never thought about genetics until they started online research (which, of course, can be both a blessing and a curse!). It’s our job to help these women cut through the clutter, educating them on what matters and what they need to know to make informed decisions. And, don’t forget about physicians. To them, we are a fountain of genetic information, helping them provide optimal patient care.  
  2. We love to empower others: As GCs, it’s not all about providing answers. We must maintain a reassuring presence for patients as they process information and often make life-altering decisions based on the information we provide. This can be a large weight on our shoulders, but it’s also rewarding knowing that you were there for somebody in their time of need.
  3. We love challenges: Working on a challenging case can sometimes be an emotional rollercoaster, but we rise to the occasion. Why? We have a sense of pride in what we do. Whether you’re in clinical practice or in industry, like I am, there is always something new to learn and interesting to do.

Do you agree with these characteristics? What other traits do you think all GCs have?

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3 Tips to Maintaining a Work-Life Balance

By Trudy McKanna

Like many of my peers, I started out as a science major in college, with a focus in pre-med. I fell in love with genetics, but had no interest in being in a lab 24/7.  Genetic counseling allows me to work in both the scientific and medical fields.  I enjoy it, because it is a fascinating whole that brings complex facets into a patient care perspective.

While being a genetic counselor (GC) is very rewarding, it can be hard at times. Here are some tips that have served me well in taking care of myself amid a demanding job.  

1. Create a separate workspace: One of the hardest parts about being a genetic counselor is keeping personal- and work-life separate. Oftentimes, the demands of the job extend outside of the typical work hours. Even though I now work from home, it is important to maintain a distinct work space. This approach has always allowed me to maintain some distance from my work.

2. Find an Outlet: One of the most beneficial skills I’ve developed over the years is recognizing when I’m feeling overwhelmed or experiencing compassion fatigue. Whether it’s a mental, physical or spiritual outlet, it always helps to stop, think, and decompress.

3. Connect with other GCs: Frequent contact with other genetic counselors can be very helpful in sharing victories, addressing challenges, and dispersing the cobwebs. I think the best thing I ever did was open up to my genetic counselor colleagues to say, “This is how I feel; this is how I failed.” If you open yourself up to others, you allow a two-way learning opportunity, regardless of age or experience.

It is a special and awesome responsibility to know that you will be part of a person's life story. It is especially rewarding knowing that when a patient shares the medical voyage of their pregnancy or their child's treatment, their contact with you made an impact. While being a GC is not a job to be taken lightly,  it is certainly a very rewarding one. 

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Pink or Blue?

By Melissa Maisenbacher

Genetic screening tests, like Panorama, screen for specific chromosome problems such as Down syndrome and the 22q11.2 deletion syndrome. Not surprisingly many women – 52% based on Natera’s recent online survey - feel anxious about their results. A bit more surprisingly, was that ¾ - 79% to be exact – wanted to know the baby’s gender. Goodbye, light yellow and green. Hello, pink or blue!

Having Panorama not only may ease anxious mom’s fears with low-risk results, but can also help moms with high risk-results make informed decisions about further diagnostic testing, pregnancy and delivery management and even early medical and developmental intervention services. It is important to remember that as a screening test, Panorama cannot diagnose a baby with a chromosome problem, just determine the risk level. 

Natera’s genetic counselors are available by phone to discuss any type of result with both providers and patients. Pink or blue: DNA matters.

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Good News. Bad News.

By Maggie Westemeyer

As Natera genetic counselors we hear from patients, friends and family “Your job must be so hard” quite often. The reason they say this is that they know we have to give “bad news” to our patients. Especially to our patients who are struggling to have a baby; a healthy baby. Many of our patients have experienced infertility, miscarriage, and even the birth of a child with a genetic or chromosome disorder. One can only imagine their frustration and sadness. 

“Bad news” for couples going through IVF and PGS can come in several forms. One example is finding out the chance for an embryo to have a normal chromosome test result. We know that the chance for chromosome problems in embryos increases as women age. It is shocking for many to hear that for a 30 year old woman, about 1 out of 3 embryos on day 5 of development has an extra or missing chromosome (aneuploidy). For a woman at age 40 the chance to have an embryo with normal chromosomes on day 5 is about 25% or only 1 out of 4. This can be “bad news” for some women and couples. 

I like to respond to the statement “your job must be so hard” by saying “no, it’s not hard at all!” Why? Because genetic counselors have the chance to help couples understand information about chances and risks. It is a privilege to work with couples who are dealing with infertility and who are deciding what the best next step in their fertility journey is. It is not hard to give “bad news” because genetic counselors know that when couples have the information about their chances for normal or abnormal chromosomes, they know more about what to expect. With more knowledge, a couple can decide if IVF and PGS testing are the right steps for them. With more education through genetic counseling, it could even be less difficult to go through IVF and PGS than without information about the risks and chances for normal results. 

Genetic counselors even get to give “good news.” When a women or couple learns that with 24 chromosome aneuploidy screening PGS there is always some chance for a normal embryo chromosome result, and that by screening embryos with PGS the chance for miscarriage can be lowered while at the same time the chance for a healthy pregnancy can be raised, they might even feel relief and hope about their future with IVF. That is “good news” to me.

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"So, there IS a chance!"

By Melissa Maisenbacher

As a genetic counselor at Natera, Inc., a reproductive genetic testing laboratory that specializes in testing embryos from IVF cycles, one of my goals is to give patients realistic expectations for preimplantation genetic diagnosis (PGD) outcomes. The process of IVF with PGD (looking to see which embryos are free from the genetic disease that the couple is at risk of passing on) and Preimplantation genetic screening (PGS) which looks to see which embryos have the normal number of chromosomes (46) is complicated enough for patient's to understand, and my hope is that a better understanding of the predicted number of normal embryos may make the process seem a little less foreign.

So, it can be quite disheartening when a patient responds: "Well, isn't this all just a big waste of time." But perhaps for this patient, that statement was true. In his case, half of he and his wife's embryos were expected to inherit the genetic disease present in the family, and because his wife was in her 40s only 30% of the embryos on Day 5 were predicated to have a normal number of total chromosomes. Taken all together there was only a 15% chance for each embryo to be unaffected with the family's specific genetic disease and chromosomally normal; if the couple had five embryos to test on Day 5 there was about a 50% chance that there would be no normal embryos for transfer. So maybe this is a waste of time for him.

But for every patient that thinks "What a waste of time", there is a patient who says "So there is a chance! That's better than no chance. Thank you." The ability for single gene testing to provide hope for families affected with genetic disorders to have unaffected children, or hope for families trying to have a child that will be able to be a stem cell or bone marrow donor for their child with cancer or other disease needing this treatment is powerful. The hope heard in so many families voices makes my job rewarding. The hope makes this worth my time.

For more information about PGD, explore our FAQs on the website, call 877-476-4743, or email info@natera.com.

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A Fortuitous Encounter

By Tara R., Natera Patient

I have been blessed with a pretty amazing life. I was fortunate to have been a Radio City Rockette and dance professionally on Broadway, as well as have a very modest career in film and TV. However, all of this excitement led to starting a family “later” in life. My husband and I have been together for four and a half short years, but the urgency of starting a family now was real. We thought, for sure, that it would take months to conceive due to my age. However, the news came as a great surprise when only three months after trying, I was pregnant.

Research? Tests? Possible complications? These weren’t even a thought yet. All this information would come from the doctor, right? But I wasn’t scheduled for an appointment for another couple of weeks. Luckily, when I was around six weeks into my pregnancy, I had the fortunate coincidence of meeting two lovely people who would change the way I looked at my pregnancy as well as any future pregnancies.

Karen and Solomon were heading into a meeting when I ran into them. They were holding the bible of pregnancy, What to Expect When You Are Expecting. The ever-curious kid in me couldn’t help but ask why, then bust out with the “I’m 6 weeks pregnant!” As it turns out, they work for a company called Natera and were heading into a meeting about their new, and incredibly innovative, non-invasive test for expecting mothers, called the Panorama Test.

It was indeed my lucky day. Karen and Solomon told me all about this new test and, in layman’s terms, how it worked. To say the least, I was amazed to hear that the Panorama Test was a simple blood test that separates the mother’s DNA from the baby’s DNA, giving a 99% accuracy rate with regards to Downs, Edwards, Patau and Turner Syndromes, triploidy, and missing or extra chromosomes: all the things that the very invasive amniocentesis screens for in women.* Is this even possible? It sounded too good to be true. And, would my doctor even be open to such a test? I had to do some research now!

After telling my husband of my chance meeting with Karen and Solomon, we did our due diligence on Natera. The website is very user friendly and informative and even includes a wonderful tool that allows you to compare accuracy of the Panorama Test to the accuracy of other tests, such as a CVS (Chorionic Villus Sampling), Amniocentesis and other methods of prenatal screening. (www.panoramatest.com/compare_options) I was amazed at the accuracy. The elimination of a painful, risky, long, needle sticking into my baby’s home of nine months was a breath of fresh air for both my husband and me. By the way, the Panorama Test can be administered as early as 9 weeks into conception, as compared to as late as 16 weeks for other tests. And, if the results are inconclusive on the first draw, they will retest you at no additional cost.

Within 10 days, I received the test results (we opted to exclude the sex of the child, which is also 99% accurate). The results showed the baby was low-risk, which is the best possible outcome. Now four months into my pregnancy, I am comforted by the test results and the peace that comes with knowing my baby was not subjected to an invasive screening process.

My hope is that this test will eventually make the amniocentesis go the way of the dinosaur. And, that more and more families will learn of the wonderful test that Natera has brought to us all through the miracle of science.

*In Nicolaides KH, et al. Prenat Diagn 2013;33:1-5, the accuracy for Trisomy 21, Trisomy 13, Trisomy 18, 45 X and Triploidy was 99%. It is important to note that both CVS and amniocentesis are able to test for conditions not included in the Panorama test.

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Recurrent Pregnancy Loss

By Melissa Maisenbacher

It is devastating to lose a pregnancy in miscarriage and even more so if you have repeated losses. You probably have lots of questions - Why is this happening? What do I do next?

First, your doctor may suggest a medical work-up to look for potential causes. This work-up may include an exam of the woman’s uterus as well as blood tests to check hormone levels, antibodies and blood clotting factors.

Your doctor may offer you and your partner a blood test called a chromosome test – also called a karyotype – to look for balanced chromosome rearrangements. In about one in 20 couples with three or more miscarriages, one of the partners will be found to carry a balanced chromosome rearrangement. A couple where one partner carries a balanced chromosome rearrangement has an option to try to increase their chances for a healthy pregnancy. This option is in vitro fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD). PGD for balanced chromosome rearrangements will be discussed in a future blog entry.

What about couples who have gone through a medical work-up and no cause has been found? Sadly, this is not uncommon; about half of couples with recurrent losses are left with no answers. So what could be causing these losses? Sometimes the answer is chromosome problems. Over 50% of first trimester miscarriages are caused by chromosome aneuploidy - extra or missing whole chromosomes. Chromosome aneuploidy happens by chance and occurs more often as women age.

Couples who have had a previous pregnancy with a chromosome problem are at slightly increased risk to have another pregnancy with an altered chromosome makeup. Also, recent studies have found that couples with recurrent pregnancy loss due to an unknown cause may be at increased risk to have a pregnancy with a chromosome problem. Couples in either of these situations can consider IVF with Preimplantation Genetic Screening (PGS), a test offered by Natera. PGS screens embryo samples for extra or missing chromosomes. PGS allows you and your IVF doctor the chance to transfer screened embryos with the highest chance for implantation and the lowest chance for miscarriage.

IVF with PGS is not right for everyone. Many couples who have had recurrent pregnancy loss go on to have healthy natural pregnancies. However, couples who want to try to lower their chances of miscarriage and increase their chances of successful pregnancy have the option of IVF with PGS.

For more information about Natera’s 24-chromosome PGS, explore our FAQs on the website, call 877-476-4743, or email info@natera.com.

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