A diagnosis is sometimes made during fetal development. Certain features on an ultrasound image may raise suspicion that your baby has Turner Syndrome or another genetic condition affecting development in the womb. Prenatal screening tests that evaluate the baby’s DNA in the mother’s blood (cell-free fetal DNA testing or noninvasive prenatal screening) may also indicate an increased risk of Turner Syndrome. (Mayo Clinic)

Note: In speaking with families who have received a preterm diagnosis, we have learned of several false positive diagnosis from the noninvasive prenatal screening (NIPS). Speak with a genetic counselor or maternal fetal medicine practitioner to eliminate any potential misdiagnosis.  You may want to read this article for more information.

The loss or alteration of the X chromosome occurs randomly. Sometimes, it’s because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.

Family history doesn’t seem to be a risk factor, so it’s unlikely that parents of one child with Turner Syndrome will have another child with the disorder.

Most people are born with two sex chromosomes. A boy inherits the X chromosome from his mother and the Y chromosome from his father. A girl inherits one X chromosome from each parent. If a girl has Turner Syndrome, one copy of the X chromosome is missing or significantly changed.

The genetic alterations of Turner Syndrome may be one of the following:

• Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father’s sperm or in the mother’s egg. This results in every cell in the body having only one X chromosome.
• Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome, or they have one complete and one altered copy.
• Y chromosome material. In a small percentage of Turner Syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as girls, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma. Ovarian Removal Statement

Effect of the chromosomal errors

The missing or altered X chromosome of Turner Syndrome causes errors during fetal development. There are other developmental problems seen after birth, including short stature, ovarian failure and learning disabilities. Physical characteristics and health complications that arise from the chromosomal error vary greatly.

A pregnancy and childbirth specialist (obstetrician) may ask if you are interested in additional tests to make a diagnosis before your baby’s birth. One of two procedures can be performed to test for Turner Syndrome:

• Chorionic villus sampling. This involves removal of a small piece of tissue from the placenta.
• Amniocentesis. In this test, a sample of the amniotic fluid is taken from the uterus.

Discuss the benefits and risks of prenatal testing with your doctor.

Symptoms

Signs and symptoms of Turner Syndrome vary significantly. A prenatal ultrasound of a baby with Turner Syndrome may show:

• Large fluid collection on the back of the neck or other abnormal fluid collections
• Heart abnormalities
• Abnormal kidneys

Health care team

Turner Syndrome can result in several developmental problems and medical complications, several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care.

Physicians will change as your child transitions through the stages of her life. Your family doctor or pediatrician will coordinate care. Specialists on your care team may include some or all of these professionals:

• Hormone disorder specialist (endocrinologist)
• Heart specialist (cardiologist)
• Specialist in women’s health (gynecologist)
• Specialist in skeletal disorders (orthopedist)
• Ear, nose and throat (ENT) specialist
• Dental specialist in correcting problems with the alignment of teeth (orthodontist)
• Specialist in vision problems and other eye disorders (ophthalmologist)
• Mental health provider, such as a psychologist or psychiatrist
• Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
• Special education instructors
• Medical geneticist

Turner Syndrome affects only girls and women and results when a sex chromosome (the X chromosome) is missing or partially missing. Turner Syndrome can cause a variety of medical and developmental problems; including, short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.

When you are expecting a baby girl with Turner Syndrome you may be diagnosed before birth (prenatal), during infancy or in early childhood. Occasionally, the diagnosis is delayed until the teen or young adult years in those who have mild signs and symptoms of Turner Syndrome.

Nearly all girls and women with Turner Syndrome require ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead relatively healthy, independent lives.

Can Turner Syndrome be prevented or cured?

TS is a random disorder caused by not having the typical pair of X chromosomes. TS cannot be prevented nor is there a cure. TS is found in every 1 in 2,000 living females. When survivable, TS is a treatable and manageable condition.  

Sure there are many more questions. We have compiled some of the more frequent questions we have received on the FAQ page, FREQUENTLY ASKED QUESTIONS – FAQ’s.

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