This article will help expectant parents understand Turner Syndrome (TS) and how it may impact their baby’s life before and after birth. We discuss the several types of TS, treatments, and frequently asked questions. To assist parents expecting a baby with TS, the Turner Syndrome Foundation (TSF) has created a new resource, Prenatal Testing & Information About Turner Syndrome, which is available at no cost online or for purchase hard-copy.
TSF Resource for Expectant Parents
TSF is pleased to announce a new resource in TS care. We have created a new resource, Prenatal Testing & Information About Turner Syndrome, for parents expecting a baby with TS. This booklet is available now and is a great resource for expectant parents facing this challenge.
Allan J. Fisher, MD, FACOG, FACMG, is a Professor at St. Louis University School of Medicine and a Maternal Fetal Medicine specialist and a Clinical Geneticist. He has voluntarily served as a medical advisor to TSF for over 12 years. Dr. Fisher has contributed to numerous health initiatives, including the Council on Infertility, Council on Cardiology, and now this booklet for expectant parents. We hope this resource will be useful to parents in helping them find information and support as they navigate their baby’s diagnosis.
This booklet is not meant to replace individualized medical advice. Always seek medical advice from a licensed medical specialist.
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What is TS?
TS is a chromosomal disorder that affects individuals born female. Usually, everyone has 46 chromosomes. Each cell of the human body contains exact copies of 23 pairs of chromosomes. One pair of chromosomes is the sex chromosome pair. This pair determines whether a child will be born biologically male or female. Under normal circumstances, a female’s sex chromosome pair is labeled XX. A male’s sex chromosome pair is labeled XY. Babies born female share 23 chromosomes from the mother and 23 from the father, for a total of 46 chromosomes. A child with classic TS has 45 chromosomes, which means that the child is missing one complete X chromosome.
Worldwide, TS affects 1 in 2,000 female births. It is a non-preventable condition, due to the random occurrence of the cell division that happens during the formation of the mother’s ova, or egg, cells and the father’s sperm cells. The health challenges caused by TS can be treated and mitigated, especially if one is diagnosed early. Some of the symptoms include short stature, failure to develop normal ovaries, and heart and kidney health challenges. The experiences of the TS community are diverse. The condition creates different challenges for different patients. Depending upon the type of TS (see below), some may have more challenges than others.
TS has different varieties, depending upon the chromosomes present in the body’s cells:
- Monosomy X (Classic TS): The most common type of TS, this affects 45% of people with the condition. With this type of TS, the body’s cells contain only one X chromosome. It occurs randomly, with the mother’s egg or the father’s sperm forming without containing an X chromosome. The child also contains only one X chromosome instead of two.
- Mosaic TS/ Mosaicism: 30% of individuals with TS have this type. With mosaic TS, some of the body’s cells randomly contain pairs of X chromosomes, while others only contain one.
- X chromosome abnormalities (46, 45 X): Abnormal or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can happen in two ways. It can occur in the sperm or egg, with all cells having one complete and one altered copy. The error can also occur in cell division during early fetal development, so that only some cells contain the abnormal or missing parts of one of the X chromosomes (mosaicism).
- Y chromosome material (XXY): In a small percentage of TS cases, some cells have one copy of the X chromosome, while other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma (a rare tumor made up of more than one type of cell found in the ovaries).
- Inherited TS: This is the rarest type of TS. In rare cases, babies may have inherited TS, meaning the mother had TS and passed it on to her child. This type of TS happens because of a missing part of the X chromosome.
Signs and Symptoms
Prenatally or postnatally, you or your doctor might observe the following signs and symptoms:
- wide neck;
- low-set ears;
- broad chest with widely spaced nipples;
- high or narrow palate (roof of the mouth);
- receding or small lower jaw;
- arms that turn outward at the elbow;
- fingernails and toenails that are narrow and turned upward;
- swelling of the hands and feet, especially at birth;
- slightly smaller than average height at birth;
- slowed growth;
- heart health challenges;
- low hairline at the back of the head;
- short fingers and toes;
- undeveloped/underdeveloped ovaries
- sexual problems;
- early end of menstrual cycle or no menstruation; and/or
- infertility (but there are other options to get pregnant with the help of fertility treatments or donated eggs).
Sources: Turner Syndrome Infographic Vector Signs Health Stock Vector-Shutterstock; Lecturio-Turner Syndrome
With treatment, some of the symptoms of TS may be prevented or managed, like short stature and ovarian underdevelopment. Some of these treatments include:
- If diagnosed early enough, doctors prescribe growth hormone therapy (GHT) for most individuals with TS. Usually, patients self-administer growth hormone via a daily injection under the skin and fatty tissue. GHT helps the patient improve their bone growth and reach an average height (or greater than what they are expected, depending on when they were diagnosed). Patients preferably start GHT early and continue it into the teenage years. The length of treatment depends on their age of diagnosis.
- Estrogen replacement therapy (ERT) starts at around 11 or 12 years of age, to provide the estrogen required to induce puberty in TS patients who are estrogen-deficient. Estrogen helps the breasts develop and the uterus grow. ERT also improves the development of the brain, heart, and liver function. ERT is required throughout adolescence and adulthood, until around the average age of menopause.
- Cyclic progestins are another type of treatment. If a patient has a deficiency in progestins (hormones that stimulate and regulate important functions, play a role in maintaining pregnancy, prepare the body for conception, and regulate the monthly menstrual cycle). A doctor may recommend cyclic progestin treatments as early as 11 or 12 years of age. Treatment starts with a very low dosage and then gradually increases to help stimulate a more normal puberty cycle.
- Pregnancy and fertility treatments are available for women with TS. To become pregnant, women with TS may need fertility treatments or egg/embryo donation.
- Doctors may recommend cognitive behavioral therapy if a child with TS has social issues, low self-esteem, depression, and/or anxiety.
Prenatal Diagnosis of TS
TS is diagnosable in utero using amniocentesis or chronic villus sampling (CVS). Amniocentesis (amniotic fluid test) is a procedure that takes a small sample of the amniotic fluid that surrounds the baby. Doctors might perform this procedure between 16 and 20 weeks of pregnancy. Source: Turner Syndrome – Causes, Types, Symptoms, Diagnosis, Treatment: Med India
Doctors might recommend a karyotype test (blood test) if a baby’s ultrasound shows signs of TS, such as:
- fluid behind the neck region,
- horseshoe-shaped kidneys, or
- left-sided heart abnormalities.
A karyotype test is a chromosomal test that determines the size, shape, and number of chromosomes in the body’s cells. A karyotype test can be done after the baby’s delivery. This is very useful to identify the chromosomal make-up of the baby’s blood cells. A karyotype test can also be done during the pregnancy, along with collecting samples of the amniotic fluid or placenta. A karyotype test is the best test for diagnosis of chromosomal problems.
Using these prenatal diagnostic methods, doctors can identify the type of TS the fetus has and some of the challenges they may face. This allows them to suggest appropriate medical interventions or treatments.
Prenatal Care of Mother and Baby with TS
Every pregnancy is different, so expectant mothers should learn as much as they can and be strong self-advocates. Carrying a child with TS is a high-risk pregnancy, so frequent personal monitoring and medical visits are necessary to track the health of both the mother and fetus.
TS is one of the causes of miscarriage or still birth. Roughly 10% of first-trimester miscarriages are a result of TS. Sadly, 98-99% of fetuses with TS are miscarried or stillborn. The thought of losing a pregnancy is heartbreaking, but you can find the strength to get through the trauma. Your baby was here for a reason, and while grief is a journey, you will find your way through it. More positively, 1-2% of fetuses with TS will survive and lead a normal life with minimal or manageable health issues. There are roughly 80,000 individuals living with TS in the United States. When they survive, they can live full and rewarding lives.
Effects of a Prenatal Diagnosis
Pregnancy is a very special time for expectant parents, when they have high hopes for their growing baby and dreams of their new life as parents. In preparation for a baby, a mother will regularly see her obstetrician to monitor her health and that of her developing baby. Optimally, prenatal care today achieves the best possible health care outcomes for mother and child. But sometimes things go wrong. Through maternal fetal screening, physicians can see if there’s a possibility that the baby has a chromosomal abnormality.
When TS is diagnosed during the early stages of pregnancy, it allows expectant parents to make informed medical decisions, have time to gather information, and form a network of support for them and their child. Early on, it’s important to fully understand the impact of TS on your baby and establish a medical plan for their future. Every child will have a different experience, making TS a complex condition unique to the individual.
A prenatal diagnosis of TS can cause tremendous stress on expectant parents, who are suddenly thrust from the wonders of parenthood to learning about what’s potentially wrong with their child. This can be an overwhelming moment. Expecting a baby with TS can be a shock, and the potential outcome is often grim. But we are here to share that life is possible. Just think of the one survivor who stands among 2,000. They are the one fighter who made it to life!
Postnatal Diagnosis of TS
Doctors can recommend a karyotype genetic test at any age, depending on the signs and symptoms of TS, including those below.
Signs of TS at birth:
- webbed neck or fluid behind the neck region
- swollen feet or hands
- cardiovascular issues
Signs of TS during the child’s development/growth:
- short stature
- delayed onset of puberty
- slow/lack of breast development or widely spaced nipples
- Lack of menstruation or other challenges due to undeveloped/underdeveloped ovaries
Source: Postnatal Diagnosis of TS-Google
Postnatal Care of Baby with TS
Depending on a child’s symptoms, a doctor will recommend different treatment options. For example, if the child has a heart condition, they might suggest surgery soon after birth. Some children with TS may not need early treatments, but in the future, they might need to take growth hormone or estrogen treatments.
As a parent, you should observe your child’s behavior and monitor their growth or any other developmental challenges they may have. You should consult your pediatrician, pediatric endocrinologist, or other specialists for their various health challenges.
Frequently Asked Questions
How can TS affect my child’s life?
TS can affect patients differently–physically, emotionally, cognitively, and developmentally. Some common challenges that individuals with TS deal with include heart problems, high blood pressure, hearing problems, vision problems, kidney abnormalities, autoimmune disorders, skeletal health issues, learning disabilities, mental health issues, infertility, and reproductive health issues.
Is TS a hereditary condition?
Yes, but only in very rare cases, if a mother has TS and becomes pregnant through in-vitro fertilization, a donated egg, or a donated embryo. Discuss this risk with your medical provider.
Is TS preventable?
No, TS is not preventable. However, after the baby’s birth, many of the medical issues caused by TS are treatable/manageable.
If I have a child with TS, what would their life expectancy be?
Family genetics and environment determine one’s life expectancy. Due to related health conditions, the life expectancy of a person with TS may be somewhat lower than average. Living healthily and receiving good medical care can improve life expectancy.
Should I terminate the pregnancy?
Depending on how the fetus is growing, your doctor will suggest the appropriate treatment options. Before discussing the options, your medical provider will run several tests to confirm the TS diagnosis. In the end, you will have to make the choice that is best for you, your baby, and your family.
Who should treat my child with TS?
The doctors who would treat your child with TS include:
- pediatric endocrinologist (hormone disorder specialist),
- cardiologist (heart specialist),
- ophthalmologist (eye specialist),
- psychologist (mental health provider),
- otolaryngologist (ENT – ear, nose, and throat specialist),
- speech pathologist (speech therapy),
- nephrologist (kidney specialist),
- urologist (bladder specialist),
- gynecologist (women’s health specialist), and
- orthopedist (skeletal disorder specialist).
Points To Remember if You Are Expecting a Baby with TS
If you or someone you know is expecting a baby with TS, we encourage you to join the TSF Patient & Caregiver Registry. You will receive acknowledgement and support as part of the TS community and a/an:
- welcome packet & pamphlet for expectant parents and families,
- invitation to opt-in to support vital research,
- forum to share your concerns; and
- support network for your TS journey.
Written by Chioma, TSF volunteeer blog writer Edited by Laura Fasciano, TSF fouunder; Elizabeth Rivera, TSF Blog Content Coordinator; Dr. Roper, member of TSF’s Advisory Board; and Susan Herman, TSF volunteer lead blog editor.
© Turner Syndrome Foundation 2021