Kendra

Prenatal genetic testing is a tool for expectant parents to learn about their baby’s health early in pregnancy. Non-invasive prenatal testing (NIPT) analyzes a small blood sample from the pregnant person to determine if a pregnancy is at a higher chance to be affected with certain (not all) genetic conditions. There are many different labs and companies that offer NIPT. Below is a comparison of four labs that offer NIPT — BilliontoOne Unity test, LabCorp MaterniT21 test, Myriad Prequel test, and Natera Panorama test.

Always confirm with your provider and/or the company whether the test offered is validated for the specific circumstances of your pregnancy (e.g., egg donor, surrogate, twins).

How long to receive results?

• On average, all these tests have a 1-2 week turnaround time for results. In some cases, results may return in 3-5 days.

BilliontoOne Unity test

• Key Features
  • Combines NIPT with carrier screening in a single test
  • Screens for trisomy 21 (Down syndrome), trisomy 18, trisomy 13
    • Optional add-ons: fetal sex, sex chromosome aneuploidies, and 22q11.2 deletion syndrome
  • Screens pregnant person to determine if they carry certain recessive genetic conditions, including cystic fibrosis, spinal muscular atrophy, alpha thalassemia, beta thalassemia, sickle cell disease, and Fragile X syndrome (optional).
    • If a pregnant person is identified as a carrier for any of these conditions, Unity determines the chance the baby could be affected, typically without having to test the male reproductive partner.
  • Can determine if a fetus is RhD positive or negative. This can help determine if a pregnant person should receive RhoGAM. Fetal RhD status testing is typically only performed if the pregnant person is Rh-negative. This is because Rh-negative individuals are at risk of developing Rh incompatibility if their fetus is Rh-positive.
    • The accuracy of fetal RhD status is >99.9%.
  • Can determine if a fetus is positive for other antigens, including C, c, E, K (Kell), and Fya (Duffy).
• Benefits
  • Simplifies testing by combining screening for common chromosome conditions and certain other genetic conditions into one test.
  • In most cases, does not require a sample from the male reproductive partner (typically, carrier screening is first performed on the pregnant person and then if they are a carrier, the reproductive partner is tested to determine if a pregnancy has an increased chance to be affected with certain genetic conditions).

• No call rate
  • 1.3% after first sample
• When in pregnancy?
  • Anytime after 9 weeks gestation
• Example report
  • Not available

LabCorp MaterniT21

• Key Features
  • Screens for trisomy 21 (Down syndrome), trisomy 18, trisomy 13
  • Optional add-ons: fetal sex, sex chromosome aneuploidies, trisomy 16, trisomy 22, 7 different microdeletion syndromes (22q11.2 deletion syndrome, Cri-du-chat syndrome, 1p36 deletion syndrome, Prader-Willi syndrome, Angelman syndrome, Jacobsen syndrome, Langer-Giedion syndrome, Wolf-Hirschhorn syndrome)
  • This company also offers MaterniT GENOME, which screens all 23 chromosome pairs for large deletions and duplications of genetic material, in addition to select microdeletions
• Benefits
  • Offers customizable options as described above.

• No call rate
  • Overall no call rate is 0.9%
  • For samples drawn at 9 weeks, no call rate is 2.08%

• When in pregnancy?
  • Anytime after 9 weeks gestation
• Example report
  • https://womenshealth.labcorp.com/sites/default/files/2021-11/rep-1355-v1-0320_MT21%20Sample%20report%20booklet.pdf

Myriad Prequel Test

• Key Features
  • Screens for trisomy 21 (Down syndrome), trisomy 18, trisomy 13
    • Optional add-ons: sex chromosome aneuploidies (includes fetal sex), 6 different microdeletion syndromes (22q11.2 deletion syndrome, Cri-du-chat syndrome, 1p36 deletion syndrome, Prader-Willi syndrome, Angelman syndrome, Wolf-Hirschhorn syndrome)
  • This company also offers “expanded aneuploidy” screening, which screens all 23 chromosome pairs for large deletions and duplications of genetic material beyond chromosomes 21, 18, 13, X, and Y.
• Benefits
  • This company currently has the lowest test failure rate. This means there is a lower likelihood of needing a redraw due to insufficient fetal DNA.
  • Can be performed as early as 8 weeks gestation
• No call rate
  • Less than 0.5% between 8-10 weeks gestation
  • Overall test failure rate after 10 weeks gestation is 0.1%

• When in pregnancy?
  • Anytime after 8 weeks gestation
• Example report
  • https://myriad-web.s3.amazonaws.com/Prequel/Prequel+with+AMPLIFY+Positive+Sample+Report.pdf

Natera Panorama

• Key Features
  •  Screens for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and triploidy
  • Optional add-ons: sex chromosome aneuploidies, fetal sex, and 6 different microdeletion syndromes (22q11.2 deletion syndrome, Cri-du-chat syndrome, 1p36 deletion syndrome, Prader-Willi syndrome, Angelman syndrome, Wolf-Hirschhorn syndrome)

• Benefits
  • Only NIPT company that offers screening for triploidy
• No call rate
  • Overall no call rate is 1.4%
  • After one redraw, no call rate is 0.5%

• When in pregnancy?
  • Anytime after 9 weeks gestation
• Example reports
  • https://www.natera.com/resource-library/panorama/panorama-sample-report/
  • https://www.natera.com/resource-library/panorama/panorama-sample-report-high-risk/

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How accurate is screening for fetal sex with NIPT?

• None of these tests are 100% accurate in predicting fetal sex. There are many different reasons why NIPT may not be accurate in predicting fetal sex. For example, if a pregnant person received an organ transplant from a male organ donor, there may be Y chromosome circulating in their blood. This test may detect that Y chromosome, and inaccurately report that the fetus is predicted to be male.

Expecting TWINS? Here is what you need to know about these tests:

• All tests described above will screen a twin pregnancy for trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. In general, the detection rate for trisomy 18 and trisomy 13 is lower in twins when compared to a singleton.
• BilliontoOne Unity: This test will report out the predicted fetal sex of both twins and zygosity.  In twins, this test can only screen for trisomy 21, trisomy 18, trisomy 13, 22q11.2 deletion syndrome, and fetal antigen status. This test cannot screen for sex chromosome aneuploidies in twins and screening for single-gene conditions (such as cystic fibrosis) cannot be performed. If a twin gestation was achieved with donor egg, screening for chromosome conditions cannot be performed.
• LabCorp MaterniT21: This test cannot determine zygosity of twins.  This test will report out the predicted fetal sex of both twins (if Y chromosome detected, based on amount of Y chromosome that is present, the test predicts the likelihood of one or both twins being male). In twins, this test can only screen for trisomy 21, trisomy 18, trisomy 13, trisomy 16, trisomy 22, and 7 select microdeletions. This test cannot screen for sex chromosome aneuploidy in twins. MaterniT GENOME is not available for twins.
• Myriad Prequel: This test will report out the predicted fetal sex of both twins.  In twins, this test can only screen for trisomy 21, trisomy 18, and trisomy 13. This test cannot determine zygosity of twins and cannot screen for sex chromosome aneuploidy.
• Natera Panorama: This test will report out the predicted fetal sex of both twins and zygosity. For monozygotic (identical) twins, this test can only screen for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidy and 22q11.2 deletion syndrome. For dizygotic (nonidentical) twins, this test can only screen for trisomy 21, trisomy 18, and trisomy 13.
• If you have a vanishing twin pregnancy, speak to your healthcare provider and/or a genetic counselor about the limitations of NIPT in your pregnancy.
• Currently, most NIPT testing is not validated for pregnancies with more than two fetuses. LabCorp’s MaterniT21 test is available for triplets or higher order multiples. No-call rates in these pregnancies are greater than 20%.

About microdeletion testing:

• ACOG does not currently recommend routine screening for microdeletion syndromes in the general population. This is due to the low prevalence of these conditions and the relatively high false-positive rates associated with testing for microdeletions.
• If you desire information about microdeletions, speak to your healthcare provider or a prenatal genetic counselor about diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, with chromosomal microarray analysis (CMA). CMA can detect hundreds of rare microdeletion syndromes and therefore, is much more comprehensive than NIPT.

Is prenatal genetic testing right for you?

• Watch this video to help you decide.

Please note this document was created on 2/12/25 and information contained within is subject to change.

The journey of pregnancy is often filled with joy and anticipation, but for some expectant parents, it can also bring difficult decisions and unexpected challenges. One such challenge is deciding whether to undergo Chorionic Villus Sampling (CVS). Chorionic villus sampling (CVS) is a type of prenatal diagnostic test performed between 10 and 13 weeks of pregnancy. This test can tell if a baby has certain (not all) genetic conditions or chromosome conditions. CVS can be performed earlier in pregnancy than amniocentesis. The results can provide more accurate information than screening tests (performed on a pregnant person’s blood), and may allow for earlier decision-making and potential interventions compared to other genetic tests.

CVS is performed in one of two ways (listed below), depending on the where the placenta is located in the uterus. An ultrasound is performed before a CVS to determine the position of the placenta and which way to perform the procedure.

1. Transcervical: A thin tube (catheter) is inserted through the cervix into the placenta to collect the tissue sample.
2. Transabdominal: A long, thin needle is inserted through the abdomen and uterus into the placenta to collect the tissue sample.

Both methods use ultrasound to help collect a small sample of chorionic villi cells from the placenta. These cells typically contain the same genetic make-up as the baby. The procedure usually takes a few minutes and may cause some discomfort or cramping. In some cases, the abdomen may be numbed prior to the procedure.

Potential risks of CVS include:

• Miscarriage: The risk is approximately 1 in 450 (less than 1% chance), which is slightly higher than the risk associated with amniocentesis (which is 1 in 900).
• Infection: Though rare, there is a small risk of introducing infection during the procedure.

You might consider CVS for several reasons:

• A desire for comprehensive information about chromosome conditions
• Advanced maternal or paternal age
• Abnormal prenatal screening results (this could be one of many different blood tests performed on pregnant person, such as first trimester screening or noninvasive prenatal testing/NIPT)
• Family history of, or prior pregnancy affected with a genetic or chromosome condition
• Structural ultrasound finding identified prior to 14 weeks, such as an increased nuchal translucency or cystic hygroma.

Many different genetic tests can be performed on the sample collected. A genetic counselor or other genetics healthcare provider can help you determine which tests are right for you, based on your family history and other factors. Unlike amniocentesis, CVS cannot detect neural tube defects like spina bifida.

It’s important to remember that there’s no universally “right” choice when it comes to CVS. What matters most is making an informed decision that aligns with your values, beliefs, and circumstances. Watch this video to learn if prenatal genetic testing may be right for you.

Are you or your partner facing the challenging decision of pursuing Pregnancy Termination for Medical Reasons (TFMR) or continuing the pregnancy after receiving unexpected news? Whether it’s through a prenatal ultrasound, genetic test, or a medical diagnosis impacting the ability to safely carry a pregnancy, Allay Life is here to offer compassionate support and guidance during this difficult time.

Navigating the Decision of TFMR

Considering the option of TFMR is a deeply personal and emotional journey, often filled with more questions than answers. Allay Life understands that the medical community primarily focuses on facts and options, offering little guidance on approaching this seemingly impossible decision. You may turn to close friends or family in this time, who may offer well-intentioned advice without understanding the complexity of your unique circumstance. Our digital workbook, developed based on 12 years of experience, provides simple exercises for navigating this decision from the privacy of your own home. Additionally, we offer 1-on-1 video appointments with a board-certified genetic counselor (trained in both genetics and counseling) to support you at any stage of this challenging journey.

Disentangling Emotions

Considering TFMR brings forth a rollercoaster of intense emotions, from guilt and sadness to anger and confusion. Emotions are a response to the parts of life that are most near and dear to our heart. A desired pregnancy represents many hopes and dreams, not only for oneself but often, for family members. Intense thoughts and feelings may be triggered by seeing another pregnant person or viewing a prenatal advertisement. Embarrassment for announcing a pregnancy or jealousy directed at others with uncomplicated pregnancies are common emotions. Allay Life acknowledges the complexity of the emotions you are experiencing. Our workbook helps you understand your emotions, fostering a sense of validation for what you are feeling during this difficult time.

Clarifying Your Values

TFMR can raise profound questions about personal values and beliefs, such as spirituality, relationship to loved ones, and views on disability/quality of life. Society, culture, friends and family can further impact personal feelings about a pregnancy and the idea of pregnancy termination. In this time of decision-making, our workbook helps you clarify the unique circumstances of your life. Learn how to listen to your inner voice and trust in your ability to make a decision aligned with your personal values, beliefs, and experiences.

Preparation, on Your Own Terms

Receiving unexpected news in pregnancy often involves unfamiliar medical information or uncertainty about a baby’s prognosis. It is normal to search online for similar stories and information. Yet, sorting through it all can feel endless and confusing. You may wonder if you must sift through it all to make this decision “correctly”. Reading other people’s stories can be comforting but may also lead to more questions or second-guessing. Keep in mind that every pregnancy is unique, even within the same diagnosis. If you find yourself overwhelmed, give yourself permission to stop searching or limit the time you spend online. When faced with information overload or conflicting information, turn back to your provider or seek a second opinion. In the setting of a prenatal diagnosis, ask your healthcare team for printed information or online resources (if not provided).

Bureaucratic forces, such as hospital and state laws/policies, may also influence access to pregnancy termination, leaving you confused and overwhelmed. Our workbook can help you organize your thoughts and feelings, while providing critical information and resources about TFMR and continuing the pregnancy, to provide you with a more manageable approach to decision-making.

You deserve care and support through any decision you make following a prenatal diagnosis. In addition to exercises that help you discern a path forward, our workbook also includes several exercises to help bolster your self-care and recognize sources of support. Allay Life remains a resource even after you decide how to move forward. Our one-on-one sessions can help you honor your family, work through the meaning of your pregnancy, and help you identify resources for healing that may feel challenging to find on your own.

Allay Life believes in the possibility of healing and peace, regardless of the path ahead. We invite you to connect with us for compassionate support during this difficult time.

With love and light,
Kendra Schaa and Hannah Davidson

Are you a carrier of a genetic condition or do you have a difference in your chromosomes? Discovering a difference in our genetic code can change the way we think about ourselves.  Have any of the following thoughts or similar thoughts crossed your mind?

“I am not who I thought I was.”

“I am damaged.” 

“I am deficient.”

“I am flawed.”

The truth is, we are ALL flawed when it comes to our genetic code. Each of us has unique genetic differences which make us who we are – this is the collective experience of being human. There is no such thing as a “normal” genetic code. Some of us know about our genetic differences, and some of us have yet to find out (and may never know during our lifetime). Yet, as a society, we do not talk about our genetic differences. This leaves people who learn that they are a carrier of a genetic condition feeling isolated and often, ashamed. 

Shame is defined as “the intensely painful feeling or experience of believing that we are flawed” (Brené Brown).

Shame is a normal and automatic response when our sense of self is threatened. As adults, our sense of self includes the possibility of parenthood. Learning about a genetic difference that may be passed on can threaten this possibility. Shame serves as a defense mechanism to protect us from our own stress and anxiety when ideas about our future are jeopardized. 

People all over the world feel shame. Yet, society and culture shape the way we each think and feel about ourselves. In some cultures, societal norms tell us that people of childbearing age will marry and have a family. Furthermore, women are often seen as responsible for the outcome of a pregnancy. If infertility or pregnancy loss is experienced, or if a baby is born with a medical issue, a sense of maternal responsibility is often felt. This long-standing and often false perception that women are responsible for the outcome of a pregnancy further contributes to feelings of shame. 

As you make sense of your genetic differences, be patient with yourself. The way you thought about yourself for many years has been challenged and acceptance of your “new” self will take time.

Below is a list of strategies (based on scientific research) to help you tackle feelings of shame.

• Practice self-compassion over self-judgment. This means being kind and compassionate toward yourself and the distress you feel. 
• Remember that we are all born with genetic differences – this is part of being human. You did not cause this change in your genes/chromosomes and you, personally, could not have prevented this change from occurring. 
• Acknowledge that your feelings are normal. Our sense of self as adults includes being a parent or the possibility of parenthood. Anything that threatens parenthood will cause an emotional reaction.  
• Understand that your feelings are the result of conditioning by your society and culture. There is not something “wrong” with you for having these feelings. 
• Focus on what you can control moving forward. 
  • Understand your own reproductive choices. I recommend speaking to a genetic counselor, as they have training in helping people explore these options.
  • Meaningful decisions about family planning are guided by your personal values. Explore you and/or your partner’s personal beliefs and values.  Does this genetic information impact your decision to have biological children? If you are currently pregnant, would you want to learn if your baby may have a genetic difference before birth? If so, how would you use this information?
  • Consider sharing your genetic test results with family members, including your children (when age appropriate). A family member may use the information you share for their own family planning, but without the knowledge, they cannot make informed choices.  Sharing can feel scary, especially because we cannot predict how someone else will react to information. Genetic counselors can be a helpful resource as you think through how to share this information with relatives.

  With love and light,
  Kendra

Did you or someone you care for just receive unexpected ultrasound findings or prenatal genetic test results? My heart is with you today and in the days to come. I am here to support you and to offer my professional experience that has helped thousands of people cope with the anxiety and uncertainty that comes with this news.

You can likely recall exactly where you were the day you received this news, perhaps even the time of day, along with the feelings that washed over you when you received this news. Many people feel shocked, anxious, angry, confused, grief-stricken, among countless other emotions. There is no “right way” to feel when the rug you were standing on is pulled out from underneath you. Everyone enters pregnancy with hopes and dreams for their unborn baby. Learning unexpected news can shake the core of our beliefs. Adding to this emotional rollercoaster, you may be living in uncertainty as you wait to see a specialist or schedule additional medical appointments. Uncertainty is one of the HARDEST aspects of this all. Know that there is a way forward and there are glimmers of light in the darkness you are experiencing.

My name is Kendra, and I am a board-certified genetic counselor. I specialize in helping people understand genetics and ultrasound and cope through their pregnancy journey, wherever their journey takes them.

No matter what unexpected news you’ve received, your mind may be racing ahead to countless possibilities. Quieting your mind can be an enormous challenge.  The strategies discussed below can be used immediately to help you gain a sense of control in this time of uncertainty.

• Acknowledge that your worries and fears are normal. Don’t beat yourself up for the thoughts you have.

• Be vulnerable. Don’t be afraid of your thoughts and feelings. When you notice them arising, acknowledge them. Write them down or talk to your partner or another trusted person. Ask yourself –
  • What you are most afraid will happen with your pregnancy?
  • What you are hoping will happen with your pregnancy?

Consider sharing this information with your OB provider. I have worked with many families who share fears and worries that a healthcare provider can put to rest because not all of our thoughts are based in reality or true.

• Take care of yourself physically and mentally. This looks different for every person, but may include:

  • Eating balanced meals and taking a prenatal vitamin
  • Keeping physically active; this may simply mean making time for a daily walk. Speak with your OB provider about what other activities are safe in pregnancy.
  • Seeking support; this may be from your spirituality/faith, family, friends, or even a counselor. Take time to consider who you can lean on for support in your life. Give yourself permission to ask for what you need from your friends, family, and/or partner. You might need space to share your worries with a good listener. Maybe you need prayers, or simply a hug or shoulder to cry on.
  • Journaling to express your feelings/emotions
  • Practicing meditation or mindfulness, perhaps with an app on your phone for support
  • Setting aside time for important relationships in your life, whether this be with a partner, friends, family or even a pet.

• Bond with your baby – ideas for bonding are discussed below. There are many different ways you can connect with your baby.

  • Did you have a favorite book as a child? Consider reading this book to your baby or find a book in your home.
  • Sing songs and/or play music you enjoy. Dance alone or with your partner.
  • Do you love nature? Go outside and tell your baby what you see and hear.
  • Record your baby’s heartbeat. Heartbeat recorders can be purchased through various online websites.
  • Do you enjoy crafts? Consider a craft project related to your baby – perhaps a memory book to document your pregnancy.
  • Watch a movie you enjoyed as a child with your baby
  • Talk and/or write a letter to your baby – this could include your favorite things, the meaning behind your baby’s name (if chosen), dreams for your baby, or anything else you may want to share with them
  • Create a memory box to place items of importance – this may be ultrasound pictures, pictures you take while pregnant, letters to your baby, or other items.
  • If you have other children, consider involving them in some of these activities.

You might find yourself searching the internet for similar stories. For some people, collecting information can feel empowering and may reduce some of the feelings of loss of control. Reading other people’s stories and experiences can be helpful but they can also cause stress and worry. Remember, each person’s pregnancy is unique. Your story is unique. No two pregnancy experiences are exactly the same. Give yourself permission to stop searching online if you find yourself overwhelmed.

Remember, it takes courage to show up to another ultrasound or medical appointment after receiving unexpected news during pregnancy. It’s normal to feel scared, fearful, and hopeful, all at the same time. You are not alone, even though it may feel like this at times. Lean on your support systems and prioritize caring for yourself. This is the best time to practice compassion along with your courage.

With love and light,
Kendra