children

Medical Genetics is committed to providing you, your newborn, children, or adolescents with excellent care in diagnosis, management and treatment of all forms of hereditary disorders and birth defects. Our staff includes many specialists from clinical geneticists, counselors to neurologists that work as a team to develop your child’s treatment plan.

Services:

  • Metabolic Clinic
  • Lysosomal storage disorders clinic
  • Fetal Alcohol Syndrome
  • Newborn Screening Counseling & Education
  • Pediatric General Evaluation
    • Disorders of growth
    • Neurocognitive impairment including autism
    • Birth defects
    • Distinctive facial features
    • Hearing impairment (in conjunction with Otolaryngology)

Specific Expertise in:

  • Neurofibromatosis (NF-1 & NF-2)
  • Prader-Willi Syndrome
  • Marfan Syndrome
  • Down Syndrome
  • Chromosome 22q11
  • Deletion Syndrome
  • Turner Syndrome
  • Chromosome Abnormalities

Contact Us

(801) 213-3599

Types of Genetic Diseases

There are several types of genetic disorders. The way in which the disorder is inherited can help determine the risks it will have on a pregnancy and the risk of recurrence it will recur in future children. Risks for having a baby with a birth defect from a genetic abnormality may be increased when:

  • The parents have another child with a genetic disorder.

  • There is a family history of a genetic disorder.

  • One parent has a chromosomal abnormality.

  • The fetus has abnormalities seen on ultrasound.

What are the types of genetic disease?

The following are the different types of genetic diseases:

  • Chromosomal abnormalities

  • Single gene defects

  • Multifactorial problems

  • Teratogenic problems

What are chromosomal abnormalities?

Chromosomal abnormalities in the baby may be inherited from the parent or may occur with no family history. The following chromosomal problems are the most common:

  • Aneuploidy. More or fewer chromosomes than the normal number, including:

    • Down syndrome (trisomy 21). Cells contain three #21 chromosomes.

    • Turner syndrome. One of the two sex chromosomes is not transferred, leaving a single X chromosome, or 45 total.

  • Deletion. Part of a chromosome is missing, or part of the DNA code is missing.

  • Inversion. When a chromosome breaks and the piece of the chromosome turns upside down and reattaches itself. Inversions may or may not cause birth defects depending on their exact structure.

  • Translocation. A rearrangement of a chromosome segment from one location to another, either within the same chromosome or to another.

    • Balanced translocation. The DNA is equally exchanged between chromosomes, and none is lost or added. A parent with a balanced translocation is healthy, but he or she may be at risk for passing unbalanced chromosomes in a pregnancy.

    • Robertsonian translocation. A balanced translocation in which one chromosome joins the end of another.

  • Mosaicism. The presence of two or more chromosome patterns in the cells of a person, resulting in two or more cell lines (for example, some with 46 chromosomes, others with 47).

What are single gene disorders?

These are also known as Mendelian inheritance disorders, from the first genetic work of Gregor Mendel. In these disorders, a single gene is responsible for a defect or abnormality. Single gene disorders usually have greater risks of inheritance. Single gene disorders can be:

  • Dominant. An abnormality occurs when only one of the genes from one parent is abnormal. If the parent has the disorder, the baby has a 50 percent chance of inheriting it. Examples include the following:

    • Achondroplasia. Imperfect bone development causing dwarfism.

    • Marfan syndrome. A connective tissue disorder causing long limbs and heart defects.

  • Recessive. An abnormality only occurs when both parents have abnormal genes. If both parents are carriers, a baby has a 25 percent chance of having the disorder. Examples include the following:

    • Cystic fibrosis. A disorder of the glands causing excess mucus in the lungs and problems with pancreas function and food absorption.

    • Sickle cell disease. A condition causing abnormal red blood cells.

    • Tay-Sachs disease. An inherited autosomal recessive condition that causes a progressive degeneration of the central nervous system, which is fatal (usually by age 5).

  • X-linked. The disorder is determined by genes on the X chromosome. Males are mainly affected and have the disorder. Daughters of men with the disorder are carriers of the trait and have a one in two chance of passing it to their children. Sons of women who are carriers each have a one in two chance of having the disorder. Examples include the following:

    • Duchenne muscular dystrophy. A disease of muscle wasting.

    • Hemophilia. A bleeding disorder caused by low levels, or absence of, a blood protein that is essential for clotting.

What are multifactorial problems?

Some birth defects do not follow a single gene or chromosomal abnormality pattern. They may be due to several problems, or a combined effect of genes and the environment. It is difficult to predict inheritance of abnormalities caused by multiple factors. Examples include heart defects, cleft lip or cleft palate, and neural tube defects (defects in the spine or brain).

What are teratogenic problems?

Certain substances are known to cause abnormalities in babies. Many birth defects occur when the fetus is exposed to teratogens (substances that cause abnormalities) during the first trimester of pregnancy when organs are forming. Some known teratogens include the following:

  • Certain medications (always consult your doctor before taking any medications during pregnancy)

  • Alcohol

  • High level of radiation exposure

  • Lead

  • Certain infections (such as rubella)

How are genetic problems diagnosed?

Families at risk for genetic diseases may want to consult a certified genetic counselor. A careful family pedigree (chart of members of the family) and history may help determine risks for certain problems. Genetic counseling also helps parents understand the effects of a disorder and ways it may be prevented or treated.

It may be necessary to check each parent's DNA to learn about some genetic inheritance patterns. Prenatal testing is also available to check the fetus for problems. Testing may include ultrasound (using sound waves to look at internal structures), chorionic villus sampling (testing the tissues around the fetus), or amniocentesis (withdrawing a sample of the amniotic fluid).

Medical History and Genetic Testing

To evaluate a child for birth defects, health care providers not only look at a child's newborn screening test results, but also look at the prenatal history of the mother during the pregnancy with the child, the child's neonatal and pediatric history, and the results of any genetic testing the child has had.

  • Prenatal history. Certain factors during pregnancy can affect the development of the baby. To assess these, various information is looked at, including the following:

    • Family medical history

    • Results of any prenatal testing

    • Personal medical history of the mother (her general health and any health condition she may have)

    • Any medications used during the pregnancy

    • Histories of past pregnancies

    • Vaccination status

    • Infection screening

    • Diet

    • Vitamin use

    • Smoking or other recreational drug use

    • Exposure to other harmful substances

  • Neonatal history: Assessments for newborn babies. Each newborn baby is carefully checked at birth for signs of problems or complications. A complete physical assessment will be performed that includes every body system. Throughout the hospital stay, doctors, nurses, and other health care providers continually assess a baby for changes in health and for signs of problems or illness. These include the following:

    • Apgar scoring (scores heart and respiratory rates, muscle tone, reflexes and color)

      • Activity; muscle tone

      • Pulse rate

      • Grimace; reflex irritability

      • Appearance; skin color

      • Respiration

    • Birthweight

    • Measurements, such as head circumference, abdominal circumference and length

    • Full physical examination

    • Hearing screening

    • State newborn screening

    • Gestational assessment (determining whether a baby was born premature by looking at both physical maturity, neuromuscular maturity)

  • Pediatric history. Children are evaluated for their "development milestones" to determine whether their development up to the current point in time has been normal. There are certain abilities and behaviors that are present at certain ages in human development. To evaluate these milestones, there are a number of factors that are examined, including the following:

    • Rate of growth

    • Which various activities the child could do at 6 months versus 12 months, etc.

    • The reflexes a child has and when he or she developed them

    • The behaviors a child has and when he or she developed them

    • Development of the baby's speech (how many words at what ages)

    • The child's level of understanding and how he or she reacts to various environmental stimuli, such as responding to a soothing voice versus a loud noise

    Parents may also note that the child being evaluated for a birth defect may seem different than other children in the family (i.e. one child walked and talked later than the other).

  • Genetic testing. Genetic testing is available to test for a number of different types of chromosome abnormalities and single gene defects. Results of these studies are important for the evaluation of a child for birth defects and their causes.

Bonnie J. Baty, M.S., CGC

Professor Baty established genetic counseling services at the University of Utah and has practiced as a genetic counselor for over 3 decades. Her research interests include genetic counseling education and practice and natural history of genetic conditions. She directs the Graduate Program in Genetic Counseling.... Read More

Specialties:

Genetic Counselor, Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599

Lorenzo D. Botto, M.D.

Lorenzo Botto, MD, is a professor of Pediatrics at the University of Utah School of Medicine. Dr. Botto earned his M.D. and residency training in Pediatrics, Pediatric Cardiology and Medical Genetics at the Universita’ Cattolica in Rome, Italy. In the United States, he completed post-doc training in epidemiology... Read More

Specialties:

Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599

John C. Carey, M.D., M.P.H.

John C. Carey, MD, MPH, is Professor and Vice Chair of Academic Affairs, Department of Pediatrics, at the University of Utah. Throughout his career, Dr. Carey has been interested in birth defect syndromes and the care of children with these conditions. Dr. Carey graduated from Villanova University in 1968 with... Read More

Specialties:

Medical Genetics, Pediatric Genetics

Locations:

PCH Outpatient Services at Riverton (801) 213-3599
Pediatric Genetics (801) 213-3599

Specialties:

Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599

Sharon L. Ernst, M.P.H., R.D.

Sharon L. Ernst, MPH, RD, CSP, CD is a registered dietitian, board certified as a specialist in pediatric nutrition and currently serves as Associate Professor (Clinical) in the Department of Pediatrics and Clinical Instructor, Division of Nutrition, College of Health. She received her Bachelor’s Degrees in Bio... Read More

Specialties:

Clinical Nutritionist/Dietitian, Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599

Julie R. Korenberg, M.D., Ph.D.

Dr. Korenberg, PhD, MD, received her PhD in Genetics followed by her post-doctoral fellowship in electron microscopy of human chromosomes (University of Wisconsin) and then her medical degree from the University of Miami School of Medicine Ph.D. - M.D. Program. She went on to complete her Pediatric residency at... Read More

Specialties:

Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599

Nicola Longo, M.D., Ph.D.

Nicola Longo MD PhD is a professor of Pediatrics and adjunct professor of Pathology at the University of Utah School of Medicine. Born and educated in Italy, Dr. Longo earned his M.D. and Ph.D. in Molecular Biology at the University of Parma School of Medicine. He received residency and fellowship training in pe... Read More

Specialties:

Medical Genetics, Pediatric Genetics

Locations:

Outpatient Clinic (801) 213-3599

Janice C. Palumbos, M.S.

Janice Palumbos received her masters degree in Genetic Counseling from the University of California, Irvine in 1983. She did her undergraduate degree at Cornell University. She has been a genetic counselor in the Division of Medical Genetics since 1983. Janice is board-certified by the American Board of Medical... Read More

Specialties:

Genetic Counselor, Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599

Sumathi Rachamadugu, CGC

Sumathi Rachamadugu is a licensed and certified genetic counselor. She works in the medical genetics clinic and genetic counseling clinic, and provides comprehensive genetic counseling services for pediatric and adult patients with a personal or family history of various genetic conditions. Her work involves gen... Read More

Specialties:

Genetic Counselor, Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599

David A. Stevenson, M.D.

Dr. Stevenson received his medical degree from the University of Utah School of Medicine, completed his Pediatric residency at the University of New Mexico, and his Medical Genetics Fellowship at the University of Utah. He has been on faculty at the University of Utah within the Department of Pediatrics since 20... Read More

Specialties:

Hereditary Hemorrhagic Telangiectasia, Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599

Krista Viau, R.D.

Krista Viau, MS, RD, CSP provides comprehensive nutrition therapy for patients with inborn errors of metabolism through direct patient counseling and education, program development, advocacy, and research. Ms. Viau utilizes ongoing laboratory data, food records, and growth patterns as the basis for determining ... Read More

Specialties:

Clinical Nutritionist/Dietitian, Pediatric Genetics

Locations:

PCH Outpatient Services at Riverton (801) 213-3599
Primary Children's Hospital (801) 213-3599

David H. Viskochil, M.D., Ph.D.

David Viskochil, MD, PhD, is professor of pediatrics and one of the clinical geneticists in the Division of Medical Genetics. He received his bachelor’s degree in biology from the University of Arizona, and his doctorate in biochemistry and medical degree from the University of North Carolina 1985. He completed ... Read More

Specialties:

Medical Genetics, Pediatric Genetics

Locations:

PCH Outpatient Services at Riverton (801) 213-3599
Pediatric Genetics (801) 213-3599
Children with Special Health Care Needs (801) 581-8943

Ashley Vollenweider, APRN


Ashley Vollenweider is a Pediatric Nurse Practitioner, board certified by the Pediatric Nursing Certification Board. She started her academic career with a BS in health sciences from California State University Fullerton. She then received a second BSN in nursi... Read More

Specialties:

Pediatric Genetics

Locations:

Primary Children's Hospital (801) 213-3599
Eccles Primary Children's Outpatient Services 81 N. Mario Capecchi Dr.
Salt Lake City, UT 84113
Map
Appointments
(801) 213-3599
PCH Outpatient Services at Riverton 3773 W. 12600 S.
Riverton, UT 84065
Appointments
(801) 213-3599