Parents Decision About a Baby With Turner Syndrome

This article will assistance expectant parents understand Turner Syndrome (TS) and how it may bear upon their infant'due south life before and after birth. We discuss the several types of TS, treatments, and frequently asked questions. To assistance parents expecting a baby with TS, the Turner Syndrome Foundation (TSF) has created a new resource, Prenatal Testing & Information Well-nigh Turner Syndrome, which is bachelor at no toll online or for purchase hard-re-create.

TSF Resource for Expectant Parents

TSF is pleased to announce a new resources in TS care. We take created a new resources, Prenatal Testing & Information Most Turner Syndrome, for parents expecting a infant with TS. This booklet is available now and is a great resource for expectant parents facing this challenge.

Allan J. Fisher, Physician, FACOG, FACMG, is a Professor at St. Louis University Schoolhouse 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. Nosotros hope this resource volition exist useful to parents in helping them find information and back up as they navigate their baby'southward diagnosis.

This booklet is not meant to replace individualized medical advice. Ever seek medical advice from a licensed medical specialist.

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1) Click booklet photo to view now (free).

two) Order hard-re-create booklet here:
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Besides consider gifting a re-create to your OB-GYN. Thank you!

Prenatal Testing Booklet — Click image to view the digital version of the booklet.

What is TS?

TS is a chromosomal disorder that affects individuals born female. Ordinarily, everyone has 46 chromosomes. Each cell of the human trunk contains verbal copies of 23 pairs of chromosomes. One pair of chromosomes is the sexual practice chromosome pair. This pair determines whether a child volition 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 ways that the child is missing one complete X chromosome.

Worldwide, TS affects 1 in 2,000 female person births. It is a not-preventable status, due to the random occurrence of the cell division that happens during the formation of the mother's ova, or egg, cells and the begetter'south sperm cells. The health challenges caused past TS tin be treated and mitigated, specially if 1 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 status creates unlike challenges for unlike patients. Depending upon the type of TS (see beneath), some may have more challenges than others.

Types

TS has different varieties, depending upon the chromosomes present in the body'south cells:

Monosomy 10 (Archetype TS): The most common type of TS, this affects 45% of people with the condition. With this type of TS, the trunk'south cells comprise only ane 10 chromosome. It occurs randomly, with the mother's egg or the father'due south sperm forming without containing an X chromosome. The kid also contains only 1 X chromosome instead of two.
Source: https://antenatal.clinicallabs.com.au/physician/harmony/chromosomal
Mosaic TS/ Mosaicism: 30% of individuals with TS have this type. With mosaic TS, some of the body's cells randomly incorporate pairs of Ten chromosomes, while others only comprise one.
X chromosome abnormalities (46, 45 10): Abnormal or missing parts of one of the 10 chromosomes can occur. Cells have i complete and one altered copy. This error tin happen in 2 ways. Information technology tin occur in the sperm or egg, with all cells having one complete and i altered re-create. The error tin also occur in cell division during early fetal development, so that only some cells contain the abnormal or missing parts of ane of the X chromosomes (mosaicism).
Y chromosome material (XXY): In a pocket-sized percentage of TS cases, some cells have 1 copy of the X chromosome, while other cells have one re-create of the X chromosome and some Y chromosome material. These individuals develop biologically as female person, but the presence of Y chromosome fabric increases the risk of developing a type of cancer called gonadoblastoma (a rare tumor made upwards of more than than one type of cell constitute in the ovaries).
Inherited TS: This is the rarest type of TS. In rare cases, babies may accept 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-gear up ears;
broad chest with widely spaced nipples;
high or narrow palate (roof of the mouth);
receding or pocket-sized lower jaw;
arms that plough outward at the elbow;
fingernails and toenails that are narrow and turned up;
swelling of the hands and feet, especially at birth;
slightly smaller than boilerplate acme at nascence;
slowed growth;
heart health challenges;
low hairline at the back of the head;
short fingers and toes;
undeveloped/underdeveloped ovaries
sexual issues;
early end of menstrual bicycle or no menstruation; and/or
infertility (but there are other options to go pregnant with the help of fertility treatments or donated eggs).

Sources: Turner Syndrome Infographic Vector Signs Health Stock Vector-Shutterstock; Lecturio-Turner Syndrome

Treatment

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 virtually individuals with TS. Usually, patients cocky-administrate growth hormone via a daily injection under the skin and fatty tissue. GHT helps the patient improve their bone growth and reach an boilerplate height (or greater than what they are expected, depending on when they were diagnosed). Patients preferably kickoff GHT early on and continue it into the teenage years. The length of treatment depends on their age of diagnosis.
Estrogen replacement therapy (ERT) starts at effectually 11 or 12 years of historic period, 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 likewise improves the development of the brain, heart, and liver function. ERT is required throughout adolescence and adulthood, until around the average historic period of menopause.
Cyclic progestins are another type of treatment. If a patient has a deficiency in progestins (hormones that stimulate and regulate of import functions, play a office in maintaining pregnancy, set up the trunk for conception, and regulate the monthly menstrual cycle). A doctor may recommend cyclic progestin treatments as early as 11 or 12 years of historic period. Treatment starts with a very low dosage and so gradually increases to help stimulate a more normal puberty cycle.
Pregnancy and fertility treatments are available for women with TS. To go pregnant, women with TS may need fertility treatments or egg/embryo donation.
Doctors may recommend cognitive behavioral therapy if a kid with TS has social issues, low self-esteem, low, and/or anxiety.

Prenatal Diagnosis of TS

TS is diagnosable in utero using amniocentesis or chronic villus sampling (CVS). Amniocentesis (amniotic fluid exam) is a procedure that takes a small sample of the amniotic fluid that surrounds the baby. Doctors might perform this procedure betwixt 16 and twenty weeks of pregnancy. Source: Turner Syndrome – Causes, Types, Symptoms, Diagnosis, Treatment: Med Bharat

Doctors might recommend a karyotype test (claret 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 later on the baby'due south delivery. This is very useful to identify the chromosomal brand-up of the baby's blood cells. A karyotype examination can also exist washed during the pregnancy, forth with collecting samples of the amniotic fluid or placenta. A karyotype test is the best test for diagnosis of chromosomal issues.

Using these prenatal diagnostic methods, doctors can identify the type of TS the fetus has and some of the challenges they may confront. This allows them to suggest appropriate medical interventions or treatments.

Source: Karyotyping-SLU Care Physician Group

Prenatal Care of Mother and Baby with TS

Every pregnancy is different, and so expectant mothers should learn as much as they can and be strong self-advocates. Carrying a kid with TS is a loftier-take chances pregnancy, and so frequent personal monitoring and medical visits are necessary to track the health of both the mother and fetus.

TS is ane of the causes of miscarriage or still birth. Roughly 10% of offset-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 detect the forcefulness to get through the trauma. Your infant was here for a reason, and while grief is a journey, you will find your way through it. More positively, i-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 Usa. When they survive, they can alive total and rewarding lives.

Effects of a Prenatal Diagnosis

Pregnancy is a very special fourth dimension for expectant parents, when they accept loftier hopes for their growing baby and dreams of their new life as parents. In training 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 all-time possible health care outcomes for mother and kid. Just sometimes things become wrong. Through maternal fetal screening, physicians tin meet if there'southward a possibility that the baby has a chromosomal abnormality.

When TS is diagnosed during the early on 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 programme for their future. Every child will accept a unlike experience, making TS a circuitous status unique to the individual.

A prenatal diagnosis of TS can cause tremendous stress on expectant parents, who are all of a sudden thrust from the wonders of parenthood to learning about what's potentially wrong with their kid. This tin be an overwhelming moment. Expecting a babe with TS can be a shock, and the potential outcome is oft grim. But we are hither to share that life is possible. Just think of the one survivor who stands among ii,000. They are the one fighter who made information technology to life!

Postnatal Diagnosis of TS

Doctors can recommend a karyotype genetic test at whatsoever historic period, depending on the signs and symptoms of TS, including those below.

Signs of TS at nascency:

webbed neck or fluid behind the neck region
swollen feet or hands
cardiovascular issues

Signs of TS during the kid's development/growth:

short stature
delayed onset of puberty
irksome/lack of chest development or widely spaced nipples
Lack of flow or other challenges due to undeveloped/underdeveloped ovaries

Source: Postnatal Diagnosis of TS-Google

Postnatal Care of Babe with TS

Depending on a child's symptoms, a doctor will recommend different handling options. For case, if the kid has a heart condition, they might suggest surgery presently after nascency. Some children with TS may non need early treatments, but in the future, they might demand to take growth hormone or estrogen treatments.

Every bit 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 diverse health challenges.

Oft Asked Questions

How tin TS affect my kid's life?

TS tin affect patients differently–physically, emotionally, cognitively, and developmentally. Some common challenges that individuals with TS deal with include heart problems, high claret pressure, hearing problems, vision problems, kidney abnormalities, autoimmune disorders, skeletal health issues, learning disabilities, mental wellness issues, infertility, and reproductive health issues.

Is TS a hereditary condition?

Yes, only 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. Yet, subsequently the infant'due south birth, many of the medical issues acquired by TS are treatable/manageable.

If I take a child with TS, what would their life expectancy be?

Family unit 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 adept medical intendance can improve life expectancy.

Should I cease the pregnancy?

Depending on how the fetus is growing, your doctor will propose the appropriate handling options. Before discussing the options, your medical provider will run several tests to confirm the TS diagnosis. In the end, you lot will accept to make the selection that is all-time for you, your baby, and your family.

Who should treat my child with TS?

The doctors who would treat your kid with TS include:

pediatric endocrinologist (hormone disorder specialist),
cardiologist (middle specialist),
ophthalmologist (eye specialist),
psychologist (mental health provider),
otolaryngologist (ENT – ear, nose, and throat specialist),
speech communication pathologist (voice communication therapy),
nephrologist (kidney specialist),
urologist (bladder specialist),
gynecologist (women's health specialist), and
orthopedist (skeletal disorder specialist).

Points To Call up if You Are Expecting a Babe with TS

If you or someone yous know is expecting a babe with TS, we encourage you to join the TSF Patient & Caregiver Registry. You volition receive acknowledgement and support equally role of the TS community and a/an:

welcome parcel & pamphlet for expectant parents and families,
invitation to opt-in to support vital enquiry,
forum to share your concerns; and
back up network for your TS journey.

Written by Chioma, TSF volunteeer blog author Edited by Laura Fasciano, TSF fouunder; Elizabeth Rivera, TSF Blog Content Coordinator; Dr. Roper, member of TSF'due south Advisory Lath; and Susan Herman, TSF volunteer lead blog editor.

Resource

birth announcement — These precious trivial ones survived

willardtharn1940.blogspot.com

Source: https://turnersyndromefoundation.org/2021/10/05/expecting-a-baby-with-turner-syndrome-2/