Genetic Testing and Autopsy

Results from additional testing may provide further information about what occurred during fetal development that resulted in the loss, and may provide a cause and recurrence risk for future pregnancies. This section briefly describes the process of an autopsy and/or genetic testing. Your healthcare team will discuss these options with you, but the final decision to have additional testing is yours.

During the course of your prenatal evaluation, you may have had genetic testing done through an amniocentesis or chorionic villus sampling (CVS) procedure. Oftentimes this genetic testing involves an evaluation for chromosomal abnormalities. This can include evaluation of the trisomy 18, 13 and 21 (Down syndrome) or microduplication and microdeletion syndromes, which involve smaller pieces of extra or missing DNA that may be responsible for birth defects.

Other genetic testing that may be appropriate to evaluate the cause of your baby’s differences can include testing for single gene disorders that are associated with a specific syndrome. Family history or physical evaluation of the baby can also help direct genetic testing. Your genetic counselor and providers will work with you to collect all of this information and determine if additional testing may be helpful. Testing for single gene disorders may be able to provide families with more accurate information on recurrence risk (to determine the chance that this condition could happen again in a future pregnancy).

An autopsy consists of an external evaluation of the baby with measurements and pictures, followed by an internal evaluation of the organ system. Tissue and organ samples are typically taken during this process, but having an autopsy should not affect having a viewing, burial or cremation, if so desired. Just as genetic testing can be helpful in providing a diagnosis, an autopsy is a way to evaluate why this happened to your child. Autopsies may serve as a form of closure for the medical piece of your child’s story. Be aware that often these babies are born with normal chromosomes and microarray, and an autopsy cannot give your medical team a definitive answer. Discuss your options with your provider. Note that the closer to the time of birth the autopsy is performed, the more conclusive the evaluation.

Some clinics or hospitals can provide medical courier services to transport your child’s body from where the pregnancy loss occurred to Children’s Hospital of Philadelphia (CHOP). Others require the use of a funeral home. Costs of transport vary; you may be responsible for paying for transport.

Information about the autopsy process is available and may have been given to you separately by the genetic counselor or medical provider. Results from an autopsy can take up to six months. If you have additional questions, speak to the physician and staff performing the autopsy or call our office and ask to speak to the nurse coordinator or genetic counselor.

Next Steps
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Loss Resources

If you have experienced a loss in pregnancy or loss of a child, we hope you’ll find these resources helpful to you during this difficult time.

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Perinatal Palliative Care and Bereavement

CHOP offers perinatal palliative care services to support families who learn that their baby is at high risk of dying either before or shortly after birth.