A Prenatal Diagnosis and Turner Syndrome

Your pregnant! Although no one anticipates hearing news that his or her baby girl has a condition called Turner syndrome, the support and information available to you have been created from volunteers who have also experienced a prenatal diagnosis of TS.  First of all, take a deep breath and exhale. Your mind is probably spinning with questions and concerns, and we’ll address common questions to the best of our ability. 

We have supportive and knowledgeable staff who may help you identify the most helpful resources for you. TSSUS also has volunteers who want to share their own experience as a parent upon learning their daughter has TS. They learned much and have insights that may help you as you begin to learn about Turner syndrome. Since each person with TS is unique, it's difficult to make predictions. Learning from other parents who have walked in your shoes is often helpful and empowering.

 

Please contact our office at 800-365-9944 or email info@turnersyndrome.org and we can answer your questions or connect you with a volunteer. 

 

The Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome explains:

 

  • Ultrasound results can suggest an increased likelihood of TS

  • Abnormal "triple" or "quadruple" blood screening results for a pregnant mother (alpha-fetoprotein, human chorionic gonadotropin, inhibin A, an unconjugated estriol) may also suggest a TS diagnosis

  • Genetic karyotype testing (blood test) for confirmation of TS after the baby has been delivered is essential because ultrasound and maternal serum screening are not always 100% reliable to confirm that a baby has TS

 

 

Below are the most frequently asked questions related to a prenatal diagnosis:

Q:  Could the parents have prevented Turner syndrome from occurring?

A:  No. There is absolutely no evidence or research that suggests a parent’s age, behaviors, environmental exposures, etc. contributes to TS.  Mother's aged 16- 40, from New Zealand to Japan, women that desperately want a baby and those that don’t, all have the same chances of having a girl with TS. 

Q:  Will my baby survive?

A:  This is a hard question to answer.  Our Society strives to offer factual information and the reality is that it is impossible to know how your pregnancy will progress. We are hopeful one day our support of research will aid in the understanding of prenatal diagnoses. Despite technology and advances in medicine, it’s hard for a physician or technician to predict the outcome of a pregnancy unless the baby in utero experiences negative organ issues.

 

Most fetuses conceived that have TS (approximately 98%) will spontaneously miscarry early in pregnancy, most often without the mother ever knowing the fetus had Turner syndrome.  In these cases, miscarriage is caused by severe heart problems or fluid build-up so significant the brain and vital organs cannot develop properly. It is estimated that 1 out of every 2,000- 4,000 baby girls delivered has TS, so those featured throughout our website were born with TS despite the odds.  Many parents in our community were told by doctors their baby would not survive through pregnancy, yet odds were defied week after week until she was born. It's a good sign if your daughter has made it past early pregnancy.

Q:  What can we do to increase the chances of survival of our baby?

A:  Follow the recommended guidelines for any pregnancy. At this time, aside from a possible heart surgery in utero when the baby is close to term, there are no special procedures or actions a parent can take to change the course of nature.

Q:   The physician suggested termination; what should we do?

A:   You are doing the right thing by getting all the facts about TS. Please review our website and even peek into the “My Story” section. We are a Society of women with TS and parents of girls with TS that want the best for those with Turner syndrome and believe knowledge is power.

Q:   Will the baby be okay after she is born? 

A:    TS is similar to a spectrum disorder in that there is a large range of abilities. In the general population, there are very few people that can’t live independently and there are very few people that are super intelligent but there are many people with different abilities in between. The same is true for those with Turner syndrome. Some women never live independently, while others are physicians. Most others fall somewhere in between. The most popular field of work for those with TS is the healthcare industry; the second most popular is education. Medically, issues related to TS are screened for before the baby leaves the hospital, and treatment of any known problems will be discussed with the parents. Cardiac issues are the #1 medical need of emergency surgery for those with TS and although some girls and women with TS do not have heart issues others display their scars as a badge of honor.

 

Q:   Are there special precautions parents should take during the pregnancy? 

A:   Carrying a baby with TS is considered a high-risk pregnancy, and you should be monitored by a high-risk pregnancy specialist and have access to both a neonatologist and a pediatric endocrinologist at delivery. 

 

Home delivery is not generally recommended for any high-risk pregnancy, but that doesn't mean it cannot happen. Your individual situation should be discussed with your physician and the midwife associated with that practice.