If you are a parent expecting a baby girl with Turner Syndrome, first of all, congratulations! This is an exciting time of life, despite the questions and concerns a Turner Syndrome diagnosis might bring. Turner Syndrome is completely random, and there is nothing you could have done to cause or change her diagnosis. You are not alone in this journey. There are many resources available through our website and ways to get involved.
Diagnosing Turner Syndrome early is very important. As parents, you can begin learning about your baby’s health condition and meeting with doctors. This way, you will be more prepared to secure the care she will require. There are three main methods of diagnosis in utero and after birth. Keep in mind that an ultrasound diagnosis from the observation of abnormal physical developments can be false. You should always order additional tests, which can also have a chance of inaccuracy.
- Amniocentesis is a test that involves removing amniotic fluid with a needle through the abdomen between 14 and 20 weeks of pregnancy. The fluid is tested for chromosomal abnormalities and genetic disorders. This test is 98 to 99% accurate and does come with some risks, so discuss this in detail with your doctor.
- Chorionic Villus Sampling (CVS) testing occurs between 10 and 12 weeks and is more risky because it is earlier in the pregnancy. It is 98% accurate.
- Karyotype test is a simple blood test performed after birth. It will determine in 2 weeks to a month if there is a chromosomal abnormality present. There are little to no risks associated with this testing.
Early Diagnosis is Key
The earlier the diagnosis, the better. Early interventions for concerns associated with Turner Syndrome lead to more positive lifelong outcomes. However, the median age of diagnosis of Turner Syndrome patients is 15 years old. While early detection is increasing, there is still room for improvement.
Preparing for Your Baby
To be prepared for your daughter to arrive, you should follow all standard recommendations to stay healthy throughout pregnancy. In addition, take the time to learn about Turner Syndrome and the immediate health care concerns following birth. Consult your OB/GYN throughout the pregnancy with any concerns. If possible, you should seek to give birth at a hospital with a level 4 NICU, as it will have the highest level of neonatal care available. Moreover, you will also want to seek out an endocrinologist, genetic counselor, pediatric cardiologist, and maternal fetal medicine doctor. This medical team will ensure your baby is able to receive all the necessary tests and monitoring after birth.
Sharing Her Diagnosis
It is normal to experience emotions of stress or anxiety when you are expecting a baby girl with Turner Syndrome. Consider seeking counseling to manage these emotions and remain focused on the excitement of starting your family! The best thing you can do is be prepared and take in as much information as possible. As an informed parent, you will feel less stress as you understand her needs and can make informed decisions.
Sharing your daughter’s diagnosis with others may be challenging. Take time to process your feelings, and share it only when you feel ready. Remember that each person you tell may have their own emotional responses to the news. You should not take this personally, as they are also processing the news in their own way. The best thing you can do is inform them about Turner Syndrome so they will also gain an understanding. Additionally, seek the advice of your counselor on how to navigate those relationships.
Physical Indications of Turner Syndrome
Every female who has Turner Syndrome is unique, and this includes the physical characteristics. You may notice some or all of these indicators when she is born:
- webbed neck
- swollen hands and feet
- high-arched and narrow palate
- low-set and rotated ears
- low hairline
- long torso
- small, set-back chin
- slightly smaller-than-average size
- arms that turn outward at elbows
- broad chest with widely spaced nipples
- short fourth or fifth finger
- underdeveloped or unusual fingernails/toenails
Internal Indications of Turner Syndrome
Additionally, several internal indicators can exist from birth. These include congenital heart defects, kidney malformations, hypertension, or hearing and vision defects. The most problematic in infancy tend to be heart and kidney malformations and ear infections. The recommended screenings for girls ages 0 to 4 soon after diagnosis of Turner Syndrome include:
- cardiology with echocardiogram
- renal and/or pelvic ultrasound
- orthopedic for hip dislocation
- ophthalmology/eye exam
- ENT/audiology exam
- dental evaluation
Growth Hormone Treatment
You may also consider growth hormone treatment as soon as your daughter is diagnosed to achieve maximum growth. Your pediatric endocrinologist will guide you through this process.
If your daughter has been diagnosed with Turner Syndrome, please consider joining our Patient/Caregiver Registry. This allows us to connect with you and send information that will address any concerns you may have. We look forward to connecting with you!
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