chorionic villi sampling
What to Do When You Find Out Your Baby May Have Down Syndrome 💛🩵
“Don’t Fear Me”
Finding out your baby may have Down syndrome is a life-changing moment—but please take a deep breath and know this: everything will be just fine. You are not alone, and you are not broken.
In fact, you may soon find out what many other parents have realized we are the lucky few.
We have met hundreds of families with children and adults who have Down syndrome, and I can tell you from the bottom of my heart: this journey is filled with more love, joy, and purpose than you could ever imagine. That little soul growing inside you is a gift, and soon you'll see just how beautifully your life will unfold.
First Things First, Don't Stress 🌿
Your baby can feel everything that you feel. If you're feeling anxious or scared right now, that’s okay—it's completely normal. But try not to let fear take over. Instead, shift into love, peace, and joy. Celebrate this pregnancy like any other. Your baby deserves that, and so do you.
One mom said it best:
“I quickly learned that we are the lucky few. You’ll understand soon. I wish I could show you a year from now how much joy and love this little one will bring you.”
Understanding Down Syndrome
Down syndrome happens when a baby is born with an extra chromosome. It's a genetic condition—not caused by anything you did or didn’t do. People with Down syndrome can live rich, full, and beautiful lives. They bring immense love into families, schools, and communities.
What About Testing? CVS Testing Pregnancy:
If you’re pregnant, you’ll likely be offered some form of screening between weeks 10 and 14 to estimate your baby’s chances of having Down syndrome. It’s important to know: these tests are optional. And you can choose not to have them—especially if your decision to love and keep your baby won’t change.
Screening Test types:
NIPT (Non-Invasive Prenatal Testing): A highly accurate blood test that poses no risk to the baby.
Ultrasound + Blood Test Combo: Typically done around the 12-week mark.
These tests can only tell you the likelihood of Down syndrome—not a definitive answer.
Women who have had abnormal results on NIPT tests, prenatal screenings, or ultrasounds may be advised to undergo CVS testing for further genetic and chromosomal assessments.
What to do next after a positive NIPT TEST?
Educate yourself first! Then, make a decision.
Diagnostic Tests (Riskier)
If your screening suggests a high chance or the NIPT test came back positive, you may be offered an additional diagnostic test:
Amniocentesis
Chorionic Villus Sampling (CVS): This test involves taking a sample of cells from the placenta. The sample is then tested for genetic abnormalities. A tissue sample from the placenta can help diagnose a genetic disorder early in pregnancy.
Amniocentesis
Performed after 15 weeks.
Involves inserting a needle into your belly to withdraw amniotic fluid.
Risk: Miscarriage (up to 1 in 200), possible infections, complications like amniotic bands.
One mom we spoke to shares her experience:
“Before the amnio, my baby had all hands and legs. After the amnio, we found out a forearm was missing. The doctor suspects an amniotic string broke loose because of the procedure. I’ll never know for sure.”
Chorionic Villus SamplinG
Chorionic villus sampling is a common method of prenatal diagnosis is chorionic villus sampling (CVS), a test used to detect genetic diseases, birth defects, and other problems during pregnancy. CVS can identify genetic problems and various health conditions in the developing baby.
When: Done between weeks 11–14.
How: A sample of placental tissue, which originates from the fertilized egg, is taken.
Risk: Similar miscarriage risk as amnio (1 in 200), possible infection. CVS does not provide information on neural tube defects, such as spina bifida, and often requires a follow-up blood test to screen for these specific conditions.
Many mothers regret choosing these invasive procedures:
“If I had a choice now, I would not do that to my already pregnant body. Never again.”
“I just wanted to enjoy my pregnancy without the trauma.”
“And here’s the simple truth: If you’re going to keep your baby no matter what—why risk it? Skip the tests. Skip the stress. Just assume your baby may have Down syndrome and prepare in love. If you’re wrong, great. If you’re right, you’re ready.”
Understanding the CVS Test- detailed info
Chorionic villus sampling (CVS) is a prenatal test used to detect genetic diseases, birth defects, and other problems during pregnancy.
CVS Testing Process
The CVS testing process typically begins with genetic counseling, where a certified genetic counselor or maternal-fetal medicine specialist discusses the risks and benefits of the procedure with you.
An ultrasound is performed to confirm how far along you are and determine the right time to schedule CVS testing. The procedure itself involves collecting a sample of chorionic villus tissue, which can be done either through the abdomen (transabdominal CVS) or the cervix (transcervical CVS). This diagnostic test involves taking a small sample of cells, known as chorionic villi, from the placenta where it attaches to the wall of the uterus. These chorionic villi are tiny parts of the placenta formed from the fertilized egg, meaning they have the same genetic material as your baby.
CVS is particularly useful for identifying chromosomal problems such as Down syndrome, cystic fibrosis, Tay-Sachs disease, and sickle cell anemia. Typically performed between the 10th and 13th week of pregnancy, CVS can provide earlier results of genetic testing compared to other prenatal tests, allowing for timely and informed healthcare decisions.
The accuracy of CVS testing is about 99%, making it a reliable tool for detecting certain genetic diseases and birth defects. However, it’s important to note that CVS does not detect open neural tube defects like spina bifida. For this reason, women who undergo CVS will also need a follow-up blood test between the 16th and 18th weeks of pregnancy to screen for these conditions.
chorionic villus sampling Testing Benefits and Risks
CVS testing provides earlier results of genetic testing, however, CVS testing comes with some risks, including cramping, vaginal spotting, and soreness in the belly (transabdominal CVS). In some cases, CVS testing may cause infection or miscarriage.
Preparing for Your Baby
It’s important to inform your healthcare provider about any bleeding disorders or if you have experienced vaginal bleeding during pregnancy. If you are Rh-negative, you may need an injection of immune globulin to prevent complications. You’ll need to sign a consent form before undergoing CVS. Sometimes a baby's blood cells may mix with a mother's during the procedure. If you are Rh negative and your baby is Rh positive, your immune system may produce antibodies against your baby's blood, which can be harmful to your baby.
Embrace the Journey 💛
Now that you’ve read about all the tests—and heard opinions from everyone around you—it’s time to pause and take a deep breath.
Stop the storm of fear. The fear of the unknown. The pressure. The life-or-death feeling.
Because yes, this is a life decision. But once you decide to keep your baby, everything else will fall into place. You can let go of the fear. Focus on peace—for you and your baby. Let the negativity go.
If you want something helpful to focus on, here is a list of simple, practical things you can do right now to prepare—just like with any other pregnancy:
Nursery:
Set up the crib or bassinet with soft, breathable bedding (but avoid pillows, blankets, and stuffed animals to reduce the risk of suffocation).
Create a changing station with essentials like diapers, wipes, changing pads, and baby cream. Don’t forget bottles, pacifiers, burp cloths, and baby toiletries.
Stock up on diapers—make sure to have different sizes since babies grow quickly.
Baby Gear and Accessories:
Add a comfortable rocking chair or glider for feeding and soothing your baby.
Install a baby monitor to keep an eye on your little one while you’re not in the room.
Have a nightlight in place for those midnight feedings.
Medical:
Check your insurance and look into Medicaid options.
Understand what’s covered: NICU, hospital stays, therapy, etc.
Support System:
Reach out to friends and family or consider hiring help for those first few weeks.
Every little bit helps.
Work Planning:
The first few months might be intense. Can you work from home? Do you have leave options? Start planning now.
Community:
When you're ready, connect with local Down syndrome groups. These parents will become your mentors, your cheerleaders, your tribe. They will give you “the MAP” to this beautiful journey. Start early if you can—programs like Early Steps offer incredible early-intervention resources.
A Final Word: You Have Got This, Mama
Please, don’t let fear steal the joy from this moment. Your baby is growing, dreaming, and loving you already. Don't add extra stress on yourself or your baby. Enjoy your pregnancy, because you are carrying a soul that will bring you more joy than you can imagine. One day you’ll look back and say, “I can’t believe I ever doubted this journey.”
If you decide you don’t want to keep your baby after they are born, you can contact Reece’s Rainbow for support and guidance.
Congratulations, mama. The world is better because your baby is in it. 💛
More info: DownSyndrome.art