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Riley Children's Health

Perinatal Genomics Program

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  • What is Perinatal Genomics?
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Genetic disease is estimated to impact 1% of all newborns. Babies that need care in a neonatal intensive care unit (NICU) are at an increased risk for having a genetic cause for their symptoms. The Perinatal Genomics Program at Riley Children’s Health cares for the unique needs of newborns needing genomic care.

What is Perinatal Genomics?

What is Perinatal Genomics?

Perinatal genomics is the focus on genetic changes that may cause health problems before a baby is born or shortly after birth. Often, genetic changes are part of what makes us unique, while other changes can lead to health problems – and those are the changes the Perinatal Genomics Program diagnoses and treats.

Studies have shown that at least 10% of babies in a NICU may have a genetic cause for their symptoms. Those same studies have shown that if we can identify the baby’s genetic problem, then we can make improvements to their medical care.

Our highly skilled team of prenatal genetic counselors, maternal-fetal medicine specialists, neonatologists, geneticists, and other healthcare providers work together to care for these patients whether a health problem is diagnosed before or after birth.

Prenatal genetic counseling vs. perinatal genomics

Prenatal genetic counseling is focused on the period right before birth and helping mothers with an increased chance of a child with a birth defect based on a genetic condition. While perinatal genomics includes the period right before and after birth, encompassing both the prenatal and postnatal period. Our program is unique in that we provide comprehensive support not only before birth, but after birth in the NICU.

What are common symptoms of genetic problems?

Many different symptoms may suggest an underlying genetic problem. This can include congenital heart defects, problems with growth or being born small, or problems with the brain. Sometimes, a patient’s symptoms are characteristic for a particular genetic diagnosis. If that’s the case, we will conduct a genetic test to make a diagnosis. When a patient’s symptoms aren’t characteristic to one diagnosis, studies have shown that whole genome sequencing is the best test to find the genetic answer we need to care for your baby.

Whole genomic sequencing (WGS)

WGS is a test in which a DNA sample is taken from the baby and both parents, and genetics specialists evaluate all parts of the DNA to see if there is a problem that can explain the symptoms. Why is it important to look at all the DNA? There are thousands of different genetic problems that can cause symptoms. Since there are so many possibilities, it’s best to perform WGS and look at all the DNA soon after a baby arrives in the NICU. Here at Riley Children’s, we are one of only a few centers in the country using this test, and it is transforming how we care for our patients.

Why Riley Children's for Perinatal Genomics

Why Riley Children's for Perinatal Genomics

The Perinatal Genomics Program helps families know if there is a genetic cause for why their baby is needing specialized NICU care. At Riley Children’s, we offer innovative diagnostic evaluation and genetic testing, access to highly skilled neonatology and genetic specialists, and novel therapies for many rare diseases. We offer families the opportunity to learn and understand their baby’s care. Our program treats all types of genetic conditions with the following services:

  • Genetic evaluations and comprehensive genetic counseling
  • Rapid genetic testing with results available in less than a week
  • Family focused care with support from other parents with a child in the NICU
  • Precision therapeutic care based on a genetic diagnosis
  • Access to an undiagnosed program to help achieve genetic answers when genetic testing could not provide answers.

This specialized program is here to care for your baby no matter what the genetic problem may be. Our experts have years of experience diagnosing genetic problems, creating personalized care plans for your baby’s specific genetic diagnosis, and supporting families as they navigate their child’s health needs.

Conditions & Services

Conditions Treated

Our pediatric specialists provide patient- and family-centered care for most related conditions. The links below provide more specific information about some, but not all, of the conditions that we treat.

  • Alagille Syndrome
  • Congenital Diseases of the Kidney
  • Growth Disorders & Short Stature
  • Lysosomal Storage Disorders
  • Metabolic Disorders
  • Neonatal Encephalopathy
  • Neuromuscular Disorders
  • Primary Ciliary Dyskinesia
  • Tracheoesophageal Fistula
  • Tuberous Sclerosis

Services Offered

We offer a number of different Perinatal Genomics Program services. Below are some, but not all, of the services that we provide. If you have a question about a specific service that is not listed here, please contact our program.

  • Amniocentesis
  • Pediatric Genetic Counseling
  • Prenatal Genetic Counseling

Doctors and Locations

Doctors

3 Results
Kristen R. Suhrie, MD profile image
Kristen R. Suhrie, MD

Neonatal - Perinatal Medicine

Kayleigh A. Swaggart, CGC, PhD, MS profile image
Kayleigh A. Swaggart, CGC, PhD, MS

Medical & Molecular Genetics

Victoria J. Thomas, NP profile image
Victoria J. Thomas, NP

Neonatal - Perinatal Medicine

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Accepting New Patients

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Locations

Locations

In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.

Sort through 4 facilities offering Perinatal Genomics Program care by entering your city or zip below.

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Related Programs

Related Programs

We provide multispecialty care for a number of conditions. Below are links to our related programs.

  • Fetal Center

Related Departments

Related Departments

We provide multispecialty care for a number of conditions. Below are links to our related departments.

  • Medical & Molecular Genetics
  • Neonatology (NICU)

Health Professionals

For Health Professionals

Refer A Patient

Refer A Patient

Contact the Transfer Center at 877.237.1177 to refer a patient. A neonatologist can be reached any time to discuss a patient and to help with referral to our center.

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Designated as Best Children's Hospitals by U.S. News & World Report, Ranked in 10 Specialties in 2020-21

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Find adult services at iuhealth.org


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