Iowa HHS provides oversight for several different programs relating to inherited conditions. If you have any questions about any of our programs call 1-833-496-8040.
Maternal Prenatal Screening Program
The Iowa Maternal Prenatal Screening Program works with prenatal health care providers to offer prenatal testing to women s to see if the baby has an increased chance of having certain birth defects. For most babies, it will show low chance. Information from the screening may help inform decisions about special care the baby may need once it is born, so the baby can have the best start possible.
Top things for you to know about the maternal screening program:
- The screening tests primarily detect Down syndrome, Trisomy 18 and neural tube defects and are available to all women during pregnancy.
- The screening is typically done in two stages. The first is during the first trimester (first 12 weeks) of pregnancy and involves an ultrasound and a blood sample, while the second is done between 15 – 20 weeks of pregnancy and involves another blood sample.
- A screen-positive result does not necessarily mean that your baby has Down syndrome, Trisomy 18 or a neural tube defect, only that there is an increased chance for one of these problems.
- A screen-negative result provides reassurance but does not guarantee that your baby is healthy, only that there is a decreased chance for Down syndrome, Trisomy 18 and open neural tube defects.
- With a screen-positive, you will be offered an ultrasound and may be offered a diagnostic test such to find out if the developing baby has a chromosome abnormality or birth defect.
- If you are too far along for the first screen, a result may still be calculated using just the second screen.
- If you miss the second screen, a result may still be calculated using the information from the first screen, though this alone cannot screen for open neural tube defects.
- An integrated, two-step approach is a more effective screen for Down syndrome and Trisomy 18 than either screens alone.
- Even though most babies will be healthy, the period of screening and testing can be a stressful time. If a problem is found you will need support and guidance.
Want to learn more? Check out this maternal screening pamphlet. You may also call the Iowa Maternal Prenatal Screening Program at 319-356-3561.
Cytomegalovirus (CMV) is a common virus that infects people of all ages. Most CMV infections are "silent," meaning the majority of people who are infected with CMV have no signs or symptoms, and there are no harmful effects.
However, when CMV infections occurs during a woman's pregnancy, the baby can become infected before birth. CMV infection of the baby before it's born is called congenital CMV, or cCMV. When this happens, the virus can get transmitted to the unborn baby and can potentially damage the baby's brain, eyes, and hearing.
About 1 out of every 5 babies born with cCMV will develop permanent problems, such as hearing loss or developmental disabilities.
The best way to protect your baby is to protect yourself
Since the CMV is generally passed from the infected person to others through direct contact with body fluids, such as saliva, take these steps:
- Wash your hands often with soap and water for 15-20 seconds, especially after diaper changes, feeding a young child, wiping a child's nose or drool, and handling a child's toys.
- Don't share food, drinks, eating and drinking utensils, or a toothbrush with a child.
- Do not put a child's pacifier in your mouth.
- Avoid contact with a child's saliva when kissing or cuddling.
- Use soap and water or a mild disinfectant to clean toys, counter-tops and other surfaces that may have a child's saliva or urine on them.
The Iowa Legislature passed a law in 2017 requiring newborn health care providers to offer testing for cCMV for any of their patients that did not pass their newborn hearing screening (the first test usually done in the hospital and the second re-screen done on an outpatient basis if they did not pass the first test). Information about this law may be found at the following links:
Here is information about what is involved in testing a baby for cCMV:
Parents may refuse to have their baby tested for cCMV for any reason. If they decide to refuse the screening they will be asked to sign a refusal form which is submitted to the Iowa Department of Health and Human Services.
Most children and adults infected with CMV don't feel ill and don't know that they have become infected; others might have mild flu-like symptoms such as fever, sore throat, tiredness, or swollen glands.
A blood, saliva, or urine test can tell whether a person has ever been infected with CMV.
Infants and children who are infected with CMV after birth rarely have problems.
There is no vaccine available to prevent CMV infection. However, a few CMV vaccines are being tested in humans. It is likely to be a few years before the US Food and Drug Administration (FDA) approves a CMV vaccine.
Women who are pregnant or plan to become pregnant, and who have close contact with young children, should discuss their risk for CMV infection with their health care provider.
For more information, call the Center for Congenital and Inherited Disorders at the Iowa Department of Health and Human Services staff at 1-800-383-3826.
Thanks to the Utah Department of Health Early Hearing Detection & Intervention program for the content of this page.
Iowa Neuromuscular and Related Disorders Program
Services for the Iowa Neuromuscular and Related Disorders Program are provided through outreach clinics across the state by the Iowa Neuromuscular Multispecialty Clinic at the University of Iowa Stead Family Children’s Hospital.
The Neuromuscular and Related Disorders Program is authorized by Iowa Administrative Code 641 IAC 4.6, which states:
641—4.6(136A) Neuromuscular and other related genetic disease program (NMP). This program provides comprehensive services statewide for individuals and families with neuromuscular disorders through outreach clinics and statewide, active surveillance for selected neuromuscular disorders.
4.6(1) Provision of comprehensive services. The department shall contract with the department of pediatrics at the University of Iowa to provide neuromuscular health care, case management and education outreach services for individuals and families within Iowa. The contractor shall provide annual reports to the department as specified in the contract.
4.6(2) Clinical services. The services provided may include, but are not limited to: diagnostic evaluations, confirmatory testing, physical therapy, consultation by board-certified neurologists, genetic counseling, medical case management, supportive services and referral to appropriate agencies.
• Affect individuals of all socioeconomic backgrounds and ethnicity across Iowa. • Are chronic disorders, often with onset of symptoms in childhood. • Have symptoms (muscle weakness, breathing problems, heart failure, etc.) that progress throughout childhood and adult life. • Usually result in life-long physical disability, such as loss of walking or use of arms. • Many of these diseases result in a shortened lifespan. • Usually result from gene changes, which can be inherited or “run in families” or occur as a new genetic change. • Many neuromuscular symptoms and the person’s quality of life can be improved with medical monitoring, early intervention, and supportive care in the home and community. • Some diseases have specific treatments that can dramatically improve outcomes, including prolonging life.
There are many forms of neuromuscular disease, including:
• Disorders of the muscle (myopathies) • Examples include congenital myopathy, myotonic disorders and muscular dystrophies. • Muscular dystrophy refers to a group of inherited disorders marked by progressive weakness and degeneration of muscle tissue. • Disorders of the nerve (neuropathies) • The types of neuropathies seen in this program are typically inherited or genetic disorders of the nerve or nerve sheath. • Other neuromuscular disorders, such as spinal muscular atrophy (SMA), myasthenia gravis and more.
• Ensure access to comprehensive health care services throughout the state of Iowa for children, adults, and families with a wide variety of neuromuscular and related disorders • Address complex and difficult needs of one of Iowa’s most vulnerable populations • Conduct specialized and efficient diagnostic evaluations • Provide care coordination of neuromuscular healthcare concerns • Provide supportive patient and family services for psychosocial concerns • Provide physical therapy evaluation and recommendations • Provide services which promote optimal medical outcome and quality of life, as these disorders affect all aspects of life for the individuals and their families • Provide education and information about neuromuscular and related disorders to families, health care providers, educators, and other interested individuals
The Iowa Neuromuscular and Related Disorders Program is supported in part by funds appropriated by the State of Iowa.
For more information or to schedule an appointment visit: Neuromuscular and Related Disorders Multispecialty Clinic
Regional Genetics Consultation Clinics
Services for the Regional Genetics Consultation Clinics are provided through outreach clinics across the state by the Division of Medical Genetics and Genomics at the University of Iowa Stead Family Children’s Hospital.
The Regional Genetics Consultation Services program is authorized by Iowa Administrative Code 641 IAC 4.5, which states:
641—4.5(136A) Regional genetic consultation service (RGCS). This program provides comprehensive genetic and genomic services statewide through outreach clinics.
4.5(1) Provision of comprehensive genetic and genomic services. The department shall contract with the division of medical genetics within the department of pediatrics at the University of Iowa to provide genetic and genomic health care and education outreach services for individuals and families within Iowa. The contractor shall provide annual reports to the department as specified in the contract.
4.5(2) Clinical services. The services provided may include, but are not limited to: diagnostic evaluations, confirmatory testing, consultation by board-certified geneticists, genetic counseling, medical case management and referral to appropriate agencies.
What are the Regional Genetics Consultation Clinics?
The purpose of the Regional Genetics Consultation service is to provide genetic health care services and education for patients and families within the state of Iowa through statewide outreach services; in order to promote health, prevent disease, reduce the incidence of congenital disorders and improve outcomes for those with birth defects and genetic disorders.
• Approximately 37,000 babies are born in Iowa every year. About 1500, or approximately 4%, are born with a congenital or inherited disorder.
• Many chronic diseases, cancers, and cognitive disorders that are known to have a genetic component.
• With early diagnosis and medical treatment, complications from serious conditions, such as intellectual disabilities or even death, may be prevented and disabilities may be eliminated or reduced.
• Genetic counseling and case management are an integral part of the genetics services provided, which helps to ensure the best possible outcome for patients and families.
The Regional Genetic Consultation Service assures that genetic specialists are available to Iowans to provide medical consultation and genetic counseling.
The general genetics clinic provides diagnostic evaluation, testing, counseling, and ongoing management for patients with known or suspected genetic conditions. Common reasons to be seen in this clinic include birth defects, learning or behavior concerns, problems with growth, family history of known genetic conditions, or concerns about a specific genetic condition.
The connective tissue disorders clinic provides diagnostic evaluation, testing, counseling, and ongoing management for children and adults with disorders affecting structural connective tissues. These include disorders of the skin, ligaments, tendons, and blood vessels. An individual may be referred to this clinic for diagnosis or ongoing management of the following conditions (as examples): Classic or vascular Ehlers Danlos Syndrome, Marfan syndrome, Loeys-Dietz syndrome, or Thoracic aortic aneurysm disorder.
The Neurofibromatosis (NF) clinic is a nationally affiliated member of the NF Clinic Network through the Children’s Tumor Foundation. The clinic provides diagnosis and medical management to patients of all ages as well as access to a multidisciplinary care team. Primary conditions include neurofibromatosis types 1 and 2 (NF1 and NF2) and Schwannomatosis.
The metabolic genetics clinic provides diagnosis, education, medical treatment, management, and nutritional support for children and adults born with inherited disorders of metabolism. These conditions affect how the body makes or uses energy from foods. Common reasons for evaluation in this clinic include abnormal newborn screening, family history of a metabolic condition, poor growth or development, loss of skills, and unexplained changes to health status.
The cancer predisposition clinic provides diagnosis and management recommendations for adult and pediatric patients affected with or at-risk for genetic cancer predisposition syndromes. Common diagnoses include APC-associated polyposis syndrome, Beckwith-Wiedemann syndrome, PTEN-hamartoma tumor syndrome, ataxia telangiectasia, Birt-Hogg-Dube syndrome, von Hippel-Lindau syndrome (VHL), Juvenile Polyposis syndrome, SDH-related paraganglioma and pheochromocytoma syndromes to name a few. This clinic is nationally recognized by the VHL alliance.
The multidisciplinary Tuberous Sclerosis Complex (TSC) clinic provides comprehensive care to patients with TSC. During a typical clinic visit, patients see a geneticist, genetic counselor, pediatric neurologist, and pediatric nephrologist.
The Lysosomal Disorders program evaluates children and adults with suspected or known lysosomal disorders such as Fabry Disease, Gaucher Disease, metachromatic leukodystrophy, mucopolysaccharidoses, and Niemann-Pick disease. These multisystem disorders may be diagnosed early in life (including via newborn screening) or much later in adulthood. In addition to offering regular clinical care (including management of enzyme replacement and other therapeutic options), the program participates in several clinical trials offering novel experimental therapies, including gene therapies, for these disorders.
The Regional Genetics Consultation Service is supported in part by funds appropriated by the State of Iowa. For more information, or to schedule an appointment, visit: Regional Genetics Consultation Clinics
Iowa Registry for Congenital and Inherited Disorders
The Iowa Registry for Congenital and Inherited Disorders collects information about infants born with birth defects for the promotion of the health of Iowans by enabling prevention education and connecting families. The University of Iowa and the Department of Health and Human Services collaborate on the mission of the registry to:
• Maintain statewide surveillance • Monitor annual trends • Conduct research to identify risk factors • Promote educational activities for the prevention of birth defects
The registry has received national recognition for its role in birth defects surveillance, research and education.
Research produced from the program typically surrounds genetic and environmental risk factors to determine potential causes and treatment protocols for the birth defects including Down syndrome, congenital health defects, neural tube defects and cleft lip and palate. Your participation in these research initiatives is critical to determine potential causes of birth defects. Together, we can pave the way for improved health outcomes for children in Iowa.
In Iowa, birth defects, neuromuscular disorders, metabolic disorders and stillbirths are reportable conditions. This means that when a baby is born with one of these conditions, it is recorded to the registry.
Birth defects are the leading cause of infant mortality in the United States. About 367 pregnancies per 10,000 are affected each year with a birth defect. A few examples include:
• Congenital heart defects • Spina bifida • Cleft lip/cleft palate • Muscular dystrophy • Down syndrome
After registered, multiple sources are used to identify infants born with birth defects. Diagnosis, prenatal exposures, prenatal testing and family history trends are all monitored to investigate potential causes.
Confidentiality during this process is incredibly important and rigorously maintained. To learn more about this confidentiality, consult Chapter 22 – Confidential Records.
You and your primary doctor will receive a notification letter and resource information within six months of being identified if your child is placed on the registry as mandated by Iowa Administrative Code. This requirement came about after advocacy from parent groups of children with birth defects.
The registry conducts research projects to study genetic and environmental risk factors for birth defects. Examples of birth defects currently studied by the registry include Down syndrome, congenital heart defects, neural tube defects and cleft lip and palate. The University of Iowa Human Subjects Committee oversees all research projects.
Stillbirth Surveilance and Prevention
- Video: Reporting of Termination of Pregnancy, Fetal Death (Stillbirth) and Neonatal Death
- Fetal Death Evaluation Protocol
- Fetal Death Evaluation Form
- Count the Kicks