Mayo Clinic Laboratories > Genetics > Prenatal

Prenatal testing

Trusted answers from genetics experts

Offering a full suite of prenatal testing, our clinically supported evaluations enable results that patients and physicians can depend on. With more than 30 years of prenatal testing experience, our laboratory is staffed by a dedicated team of directors, genetic counselors, and other specialists. Our test menu is informed and developed in collaboration with leaders in the field of prenatal diagnostics, including partners from Mayo Clinic’s Women’s Health.

The availability of multiple testing methodologies in our prenatal testing allows for clarity in results, including structural characterization of cytogenetic abnormalities. To help prioritize prenatal evaluations so patients and clinicians receive results in a timely fashion, our testing experts provide ordering guidance and result interpretation of the highest quality for prenatal diagnosis of genetic conditions.

3,500+

3,500+ prenatal samples handled annually assures patients their results are from a lab with a breadth of experience in even the rarest disorders

12+

12+ testing methodologies allow for clarity in results

Test menu

Carrier screening Carrier screening
Carrier screening

Our carrier screening panels test for the most common inherited disorders: cystic fibrosis (CF), spinal muscular atrophy (SMA), Fragile X syndrome, and hemoglobinopathies. In the instance of a positive family history, we have testing available for a number of different inherited disorders.

Diagnostic and companion testing Diagnostic and companion testing
Diagnostic and companion testing

Encompassing a wide range of methodologies, including molecular and cytogenetic analysis options, our prenatal diagnostic and companion tests provide critical insights into a baby’s health. Among our available testing methodologies are targeted fluorescent in situ hybridization (FISH), chromosome analysis, chromosome microarray, targeted molecular testing for known familial variants, and multigene next-generation sequencing panels. In addition, we offer multiplex ligation-dependent probe amplification (MLPA) and polymerase chain reaction (PCR) methods.

Frequently asked questions Frequently asked questions
frequently asked questions

Learn more about our prenatal testing, including specimen preferences and collection requirements, the cell culture process, who to contact for additional information, and more.

Pregnancy loss Pregnancy loss
Pregnancy loss

In instances of pregnancy loss or fetal death, we offer analysis for chromosomal changes on several different specimen types including paraffin-embedded tissue to determine causes and risk of recurrence for future pregnancies.

Prenatal associated testing Prenatal associated testing
Prenatal associated testing

To enable a more comprehensive understanding of a patient’s pregnancy, we offer maternal serum screening, virology studies, pathology evaluation, and other non-genetic evaluations as a complement to our other genetic options.

Committed to care

When you partner with Mayo Clinic Laboratories, you gain access to more than three decades of prenatal testing experience and experts who are leaders in the field of prenatal diagnostics. From careful handling of specimens upon receipt to expeditious reporting of clinically relevant results, our meticulous care of prenatal samples throughout all laboratory processes ensures all appropriate testing can be completed. Genetic counselor review of all test orders, combined with our reflexive testing approach, helps ensure each patient receives the right test.

News and updates

The latest

Familial Variant Targeted Testing (FMTT)

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

Learn more
Carrier Screening

Linda Hasadsri, M.D., Ph.D., explains carrier screening at Mayo Clinic Laboratories. Using targeted genotyping, our three focused panels evaluate genes associated with cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, to provide clear answers on reproductive risks and to guide decision-making.

Resources
Article Prenatal testing: Is it right for you?
Article The use of chromosomal microarray analysis in prenatal diagnosis
Article Obstetric Care Consensus #10: Management of Stillbirth
Download Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: A practice resource of the American College of Medical Genetics and Genomics (ACMG)
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