Prenatal Diagnosis of Turner Syndrome: Stories & Advice from Experienced Mothers

In this article, we will share experiences of seven mothers who received their daughter’s Turner syndrome (TS) diagnosis during pregnancy. Their stories reflect a wide range of experiences from navigating the shock and uncertainty of the diagnosis, to finding knowledgeable medical care, to supporting and advocating for their daughters after birth.

Turner syndrome can be an especially emotional diagnosis to receive during pregnancy. Many parents are told difficult statistics, including that up to 99% pregnancies affected by Turner syndrome result in miscarriage or stillbirth. This information is heartbreaking to hear and often leaves parents balancing fear and grief alongside hope and love for the rest of the pregnancy.

If you are going through this process, you are not alone. The Turner Syndrome Foundation community is here to provide hope for the 1% of miracle babies, and also support through loss. Parents are encouraged to join TSF’s registry to get connected with information and resources. If you are looking for support with miscarriage, read our blog on Coping with Loss.

Through these stories, we hope to bring awareness to the experiences of parents navigating a Turner syndrome diagnosis in pregnancy, highlight opportunities for more compassionate and informed care, and help parents feel less alone in their journey.

If you are expecting a baby with Turner Syndrome, our Prenatal Testing and Information About Turner Syndrome booklet is a great resource to learn more.

Receiving the Prenatal Turner Syndrome Diagnosis

The seven mothers who shared their stories for this article received their daughter’s prenatal Turner syndrome diagnosis as early as 12 weeks pregnant and as late as 32 weeks. Many said that it was flagged via NIPT test, and some chose to continue on with amniocentesis during pregnancy for confirmation while others waited until after birth for further genetic testing via karyotype.

For more information on the types of genetic tests, read our article on Newborn Screening. You can also read about the genetics behind Turner syndrome on our blog.

Lindsey is mother to Ainsleigh, who is now 8 years old. She said, “I was originally told she had trisomy 18 on a blood test, but it was later confirmed to be Turner syndrome from an amniocentesis around 16 weeks pregnant.”

In Kelsey’s experience, “We found out my daughter Juliet had Turner syndrome when I was 12 weeks pregnant. My ultrasound showed a large cystic hygroma and fluid around the heart which pointed towards a chromosomal abnormality. We did further testing while in the NICU that later confirmed the diagnosis.”

Rena’e recalls, “I was 5 months pregnant with my baby girl when I found out she had TS. Because of my age, the doctors suggested that I get a screening for chromosomal issues, as these begin issues began to increase more significantly after age 35 in pregnancy. I went in for scans and to get my blood drawn and a few days later I checked the app on my phone to read the results and instantly the tears, confusion, worry, doubt, and sadness came over me as I sat in my room and cried.”

Information Received with the Diagnosis

There is a pattern when it comes to receiving a TS diagnosis prenatally, which is that many mothers felt unsupported when receiving life-changing news. Several of the moms said that it entailed a brief phone call without any further discussion, and in some cases they were advised to terminate the pregnancy.

If you have received a prenatal diagnosis, read our information about expecting a baby and coping with the diagnosis.

Mother to one-year old Isla, Mya, shared, “They explained the odds she had and all she could face and that she might not survive, all within a 5-minute phone call, and said to call back if I had any questions. That was it.”

Another mom, Melissa, recalled, “When I was 8 months pregnant they told me Marnie had TS. The doctors told me Marnie would be incompatible with life – she had a less than 1% chance of survival they said, and if she lived, she would suffer daily. They told me to abort her because her variant has never medically been seen before and it was too risky.” Marnie is now one year old.

Rena’e said she “Was terrified of the future of my child because they always tell you the ‘what ifs’ and bad stuff, but rarely about the babies that survive and thrive and live healthy lives.” But fortunately, “Our doctor was phenomenal at explaining TS to us,” she says.

Maurissa advises, “It is interesting because not many doctors know about TS and you find yourself educating them.”

While some doctors handle these conversations with care and are proactive about helping parents find the resources they need, that is not always the case.

Medical Care for Pregnancy

After receiving the diagnosis, doctors can begin supporting parents in building their care team, while parents research what they can do to best support their miracle babies.

When it comes to medical concerns throughout pregnancy, Courtney said, “We were told at 17 weeks Sophia was going to pass away due to cystic hygroma, then again at 20 weeks due to the fluid all over her body. The fluid resolved at 30 weeks. We delivered her early due to low amniotic fluid and she came out breathing on her own. We spent 60 days in the NICU. She had a stent put in at 2 weeks old. I’m grateful for having Sophia and bringing her into this world after being told she was going to pass away twice.”

After receiving the prenatal diagnosis, the parent should be referred to a Maternal-Fetal Medicine Specialist (MFM), and may also receive referrals to genetic counseling or other specialists depending on the circumstances of the pregnancy.

Though the diagnosis often brings a lot of fear and uncertainty, parents expecting a baby can still celebrate their pregnancy. Regardless of the outcome, you are a parent to a TS butterfly, and she is lucky to have you as parents!

Shop for “Our Butterfly is On the Way” merchandise if you would like to create a yard sign announcement or wear your pride.

Medical Care for Babies with Turner Syndrome

Building a well-rounded care team is fundamental for every child with TS, and receiving the diagnosis prenatally allows parents to research what care may be needed, connect with the right specialists, and be proactive about detecting potential medical concerns. Read Parent and Caregiver FAQ’s.

For her daughter’s care after birth, Mya shares, “We have had the best experience with getting Isla into the doctors she needs. We were set up with a geneticist while I was pregnant and they helped us get the connections we needed. Isla sees cardiology, two endocrinologists, a speech therapist, ENT, gastroenterologist, ophthalmologist, developmental therapists, urology, and otolaryngology.”

Lindsey said, “I’m grateful that Ansleigh was diagnosed in utero because it allowed time for us to learn about the diagnosis and to be prepared for possible issues in the future. An early diagnosis allowed us to get her the care she needed from the time she was born. Ansleigh was born with a coarctation of the aorta and we were preparing for open heart surgery at a couple days old.”

Now, Ansleigh is 8 years old, and Lindsey says “We are lucky to have Nationwide Children’s Hospital close to us, which also has a Turner Syndrome Clinic. The specialists and nurses have been absolutely amazing throughout this whole journey.”

Kelsey also had a positive experience with building her daughter’s care team, explaining “Juliet has faced lots of challenges in her short life due to Turner syndrome. She started with a NICU stay after birth and has since had numerous doctor’s appointments, tests, and procedures to monitor different health problems associated with TS. Despite all of her health problems, she has

never let that get in the way of living a normal life. We’ve been fortunate enough to have a great team of doctors at our local children’s hospital that specializes in Turner syndrome. We meet with them regularly and they’re great about keeping a close eye on her and taking care of all of her needs.”

For Melissa, the care required for her daughter has been extensive. She said, “At just age one, Marnie has visited the hospital over 50 times. She struggled with so many hospital tests, EEGs, seizures, and being put under anesthetic, but showed such strength and made us so proud.”

Parents who feel overwhelmed by the care required are not alone. Rena’e shares, “As a parent, I keep my faith for every doctor’s appointment that we will receive good news, especially about her heart. It can weigh on you, and at first all the specialists she would see back to back was overwhelming, but I focus on how healthy and thriving she is.”

As mentioned, if possible, parents are encouraged to connect with a local Specialized Center of Care or Clinic for Turner syndrome. This is a facility that offers care from a variety of specialists who are familiar with TS, all in one location. This can help with ensuring that your daughter’s care is well-coordinated and combine several appointments into one visit.

Advice from Parents: Advocate, Advocate, Advocate

The advice from the TS parent community is unanimous: you must be your child’s biggest advocate. With sometimes limited resources available, it is important for parents to become knowledgeable in TS so they can best advocate for their child.

In Maurissa’s years of experience with her 9-year-old daughter, she has learned, “There is a lot of advocacy required because it is not really known about. As a parent, do your research. If you’re second guessing something said by the doctor, it is ok to get another opinion. You are your child’s biggest advocate.”

Mya shares similar advice, saying “My best suggestion is don’t stop pushing. Not everyone is versed in genetic conditions and you’re going to encounter doctors who push back. Push even harder. It has been a long journey, but she’s so worth it!”

Rena’e’s words of advice for other parents are “I suggest reading up on TS and the struggles your child might have, and stay aware of any changes you may see health-wise. Also, join support groups and connect with other parents you can lean on.”

From my own experience living with TS and having to learn to advocate for myself as an adult, setting that example for your children is the best thing you can do to help them thrive in the future. I was able to see how my own parents were there to support and advocate for me growing up, which helped me gain the foundational knowledge I needed to advocate for myself today.

There are many online resources, such as the Turner Syndrome Foundation website, that can provide information for families to understand the condition and advocate for their children.

Another suggestion is joining support groups online. TSF offers Star Sisters for women with TS and parents of children with TS, and it includes a Facebook group and monthly online meetings. There are other Facebook groups for parents with TS children, such as Turner Syndrome Support Chat & Resources and TS Mommies n Parents. Support groups can be a valuable resource to gain support, share stories, and connect with other families.

The Blessing of a Daughter with Turner Syndrome

“Being her mom is my greatest accomplishment,” says Mya. “She has taught me patience, perseverance, and a strength I didn’t know I had.. she was given a 2% chance of survival. And has faced challenges most babies don’t ever experience. And I’m very glad that God thought I was good enough to be her mother. She is resilient, and strong.”

Maurissa says “I am most proud of being a mother of a butterfly. Having her has taught me so much.”

In Kelsey’s words, “I am beyond proud of my daughter, Juliet. She’s resilient and a true fighter. When we got her diagnosis early on in pregnancy, I was told that she had a very small chance of making it to birth and to start watching for signs of miscarriage. Despite all odds stacked against her, she’s here! She’s happy, healthy, & thriving!”

Rena’e shares something that many parents can relate to, saying “I’m most proud of giving birth to a 5 lb 11 oz baby girl. As a parent I’m worried about her future, but I stay focused on every milestone they said she would have difficulty hitting. I have faith that she will continue to thrive. She is walking, talking a little, and running around the house. No doubt there was fear of the unknown, but our faith kept us looking for positivity.”

How to Better Support Parents with a Prenatal TS Diagnosis

From these stories, it’s clear that it would make a positive impact on families’ lives to offer more support and answers when receiving a TS diagnosis. Many families are left confused, discouraged, and with more questions than answers. Providers should be proactive about understanding the condition and approaching families with empathy and support.

By continuing to advocate for women with TS, creating educational resources that are easily accessible, and by fighting for TS visibility, we can begin to bridge the information gap and better support parents receiving a TS diagnosis.