Turner Syndrome and the Importance of Newborn Screening

Medical advancements in newborn screening have improved the early diagnosis and treatment of chronic diseases, including Turner syndrome (TS). This screening is efficient, cost-effective, and although not frequently talked about, includes routine tests that take place prenatally or immediately after birth. Since September is Newborn Screening Awareness Month, we will take a deeper look into what newborn screening entails and the importance of newborn screening for those with TS.

Newborn Screening Awareness Month

In the U.S., babies are screened for different diseases depending on which state you live in. Unfortunately, TS is not one of the conditions for which newborns are screened. National Newborn Screening Awareness Month, during September, was enacted out of the desire to help babies get diagnosed and treated earlier. It also highlights the need to advocate for the importance of newborn screening. It is important to advocate on a state and federal level so that we can help children with TS and other chronic conditions and their families have better health and lives.

Baby's First Test

About Newborn Screening


Newborn screening is a preventative public health initiative that requires mandatory testing of all newborn babies. This is usually completed in a hospital setting within the first 24 to 48 hours after birth. The purpose of screening after birth is to test for rare conditions or diseases that are treatable, but can be detrimental if

not managed early. In certain U.S. states, repeat testing is required one to two weeks after the first newborn screening, and the types of tests that are included vary.

In 2006, the Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process to standardize state newborn screening programs. The experts recommended a uniform panel of conditions for screening. They also identified 29 conditions for which screening should be mandated, including TS. An additional 25 conditions related to the above conditions were included. However, a uniform screening panel has yet to be implemented.

Newborn screening has three separate parts: a heart test, a hearing test, and a blood test

Heart Test

To test for any heart defects, doctors perform a pulse oxidation test, which measures the amount of oxygen saturation in the blood. If a patient has some form of heart abnormality, oxygen saturation will be greatly affected. This helps physicians better diagnose newborns early on. 

Hearing Test

The hearing test, called an automated otoacoustic emission (AOE) test, utilizes a small hearing aid and microphone. Once sound is played through to the ear, the echo response from the inner ear is measured. This allows the physician to understand if a newborn is displaying any degree of hearing loss.

Blood Test

The final test, a blood test, is referred to as the heel-prick test. This test involves pricking a newborn’s foot to withdraw blood. The blood is then tested for conditions such as phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), and sickle cell disease (SCD).

According to the CDC, “every day, babies are routinely screened for 33 or more treatable diseases, and each year, nearly 12,500 babies receive a diagnosis.” Screening is effective and helps to mitigate the long-term effects of diseases early on. However, as noted above, different conditions are tested for in different states.

The Importance of Early Screening for TS

Fabry Disease News

Early screening is critical in diagnosing TS, which is a congenital, chromosomal disorder affecting only female fetuses and characterized by the complete or partial absence of an X


Unfortunately, babies are not routinely screened for TS at birth, and many newborns do not have the identifying characteristics of the condition. Therefore, more than 50% of babies with TS are identified later in life. This means that they may miss out on important growth hormone or other treatments that could improve their lives. 

Only one to two percent of fetuses with TS survive to birth, and the condition is responsible for 10% of first-trimester miscarriages. However, many women survive TS and go on to live long and happy lives. TS is a variable condition, which means that everyone is affected differently. TS patients can have a wide range of symptoms and medical issues.

Prenatal Testing

Doctors may suspect TS from ultrasound exams if they notice lymphedema (swelling in the head and extremities), heart anomalies, kidney defects, etc. If TS is suspected prenatally, there are two ways to definitively diagnose it: chorionic villi sampling (CVS) during the second trimester (13 weeks) or amniocentesis. CVS involves taking a sample of tissue from the placenta to test for genetic problems. An amniocentesis removes amniotic fluid–the clear fluid that surrounds the fetus–to test for any genetic changes. 

For expectant parents, getting a diagnosis like TS can be quite overwhelming, but finding out about this disease early on can help in many ways. There are also some instances in which prenatal testing could produce false positives, so the best thing to do is consult with a genetic counselor or a physician who specializes in maternal fetal medicine to ensure the diagnosis is correct.

TS is a non-inherited disease, and the chromosomal alterations occur sporadically. It is never the mother’s fault! Mutations can occur during the early stages of fetal development, so newborn screening is imperative to identify these changes for diagnosis.


TS is not curable; however, early diagnosis can allow expectant parents to build a network of medical professionals to treat their newborn child. Some of the common problems in TS involve the heart, thyroid, and kidneys. Seeking medical expertise from an endocrinologist, cardiologist, and other specialists will help jump start the treatment process before symptoms present or worsen. As a child matures, new symptoms may arise, so the treatment plan may change.

Postnatal Testing

Postnatally, the “gold-standard” test to diagnose TS is a karyotype study, which requires a blood draw from the newborn. A karyotype test identifies any chromosomal changes that confirm TS. These tests help diagnose TS early on so the appropriate care plan can be created for the newborn patient.

Common indications during infancy are:

  • lymphedema (swollen hands or feet);
  • abnormal facial features, including eyes and ears;
  • wide, webbed neck with extra skin fold;
  • small size/poor growth;
  • failure to thrive/ feeding issues;
  • bone and joint issues (e.g., dislocated hip); and
  • heart, kidney, and bladder issues.

Later Diagnosis

Early screening can potentially help guide a parent, caretaker, or patient with TS to the appropriate specialists to screen for any potential issues. This will ensure that all TS patients have appropriate care as they transition into adolescence and adulthood and throughout their whole lives. 

Oftentimes, TS can go undiagnosed until adolescence or even adulthood, depending on the symptoms a patient has. Women with TS are usually born with poorly formed or missing ovaries, so this can lead to infertility. A patient may not notice any changes with their body until they face issues with their menstrual cycle, fertility, or other issues. In these circumstances, the best thing to do is to see a primary care physician as soon as possible, who will be able to create a care plan and refer you to a team of specialists.

Click here to read the stories of two women who were diagnosed with TS later in life.


So what should you do if your doctor suspects that or diagnoses your baby with TS? First, don’t panic. Your primary care doctor or

obstetrician will likely refer you to an endocrinologist, who can help you set up a team of specialists for your baby and help you decide how to proceed. This is obviously a very challenging time, and it is important to seek support from people you trust. 

TSF has a Prenatal Testing & Information Booklet on Turner Syndrome, which is free to download digitally and offered for purchase in hard copy. It contains helpful information to guide you through this process. You may also want to check out Star Sisters, a private, online support group for those affected by TS. This group includes many women who survived TS and are leading successful and happy lives.

What You Can Do

There are many things you can do to help those with TS receive earlier diagnoses and better treatment. Learn about the symptoms (and educate your medical caregivers). Take steps yourself towards early diagnosis. Finally, be a hero for TS by advocating both individually and with your legislators.

Recognize the Symptoms

Be aware of the common symptoms of TS and consult with a medical professional, such as a primary care physician or an endocrinologist, once symptoms present themselves.

If you recognize the symptoms and alert your doctors to them, you baby or child has a much better chance of receiving life-altering and possibly life-saving treatment.

Take Action Towards Early Diagnosis

Many patients with TS go undiagnosed each year, due to minimal symptoms, lack of awareness, and inadequate access to medical care. You can help by educating yourself and your doctors about TS. TSF has a Professional Membership Program designed to provide medical providers with a place to network, learn, and share information about TS. There are also office materials your physician can order to help educate their staff and patients.

Be an Advocate for Early Screening for TS

One way to spread awareness is through volunteering your time or donating to TSF to support its advocacy programs. You can also take part in individual or legislative advocacy, including signing the Petition for TS Patient Care, to be sent to legislators to highlight the importance of early TS screening and diagnosis. Click here for a legislative advocacy success story.

Help us mitigate the long-term effects of TS and help those affected lead long and fulfilling lives!


Written by Chioma Gabriel, TSF volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator, and Kayla Ganger, PA-C, TSF Professional Membership Liaison. Designed by Jasmine Persaud, TSF volunteer blog designer.

© Turner Syndrome Foundation, 2022

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