How do I know if I have Edwards syndrome?

TL;DR: Edwards syndrome, or Trisomy 18, is a chromosomal condition typically diagnosed during pregnancy or shortly after birth through genetic testing. Because it is caused by the presence of an extra 18th chromosome in all or most cells, it is not a condition that develops later in life, and adults cannot suddenly "develop" Edwards syndrome.

What are the primary indicators of Edwards syndrome?

Edwards syndrome is characterized by the presence of three copies of chromosome 18 instead of the usual two. Because this condition affects fetal development, the signs are typically identified by clinicians during prenatal ultrasounds or immediately following birth. Common clinical features associated with Edwards syndrome include low birth weight, a small head (microcephaly), a small jaw (micrognathia), and specific hand abnormalities such as clenched fists with overlapping fingers. Because 108 individuals and families within the DiseaseMaps community have shared their experiences, we know that the medical journey for Edwards syndrome is deeply complex and often involves multidisciplinary care from the neonatal period onward.

Is it possible for an adult to have Edwards syndrome?

It is medically impossible to "develop" Edwards syndrome as an adult. The condition is a permanent chromosomal anomaly present from the moment of conception. If you are an adult concerned about your physical features or developmental history, it is important to understand that your symptoms are not related to Edwards syndrome. Normal human variation in physical appearance, such as jaw structure or hand shape, is common and does not indicate a chromosomal disorder. If you have concerns about your health, a primary care physician can help investigate other causes that are actually relevant to adult health.

How is Edwards syndrome diagnosed?

Diagnosis is achieved through definitive genetic testing, which looks for the extra chromosome 18. If a pregnancy or newborn is suspected of having Edwards syndrome, doctors utilize the following diagnostic methods:

• Prenatal Screening: Non-invasive prenatal testing (NIPT) or ultrasound markers (like heart defects or growth restriction) often serve as the first indicators.


• Diagnostic Procedures: Amniocentesis or chorionic villus sampling (CVS) are performed during pregnancy to confirm the chromosomal makeup.


• Postnatal Karyotyping: A blood test is performed on the infant to analyze the chromosomes and confirm the presence of full, mosaic, or partial Trisomy 18.

When should you consult a physician?

If you are a parent or caregiver worried about a child’s development, early intervention is vital. You should speak with a pediatrician if you notice persistent failure to thrive, significant developmental delays, or concerning structural abnormalities. When speaking to your doctor, be specific: describe the exact physical features or milestones that worry you, and do not hesitate to ask for a referral to a clinical geneticist. If you feel your concerns are being dismissed, you have the right to request a second opinion or a consultation with a genetic counselor who specializes in chromosomal conditions.

Next steps

• Consult a board-certified clinical geneticist to discuss any concerns regarding genetic conditions.


• If you are a caregiver, join the DiseaseMaps.org community to connect with other families navigating the realities of Edwards syndrome.


• Request a formal referral to a genetic counselor to interpret any test results or family history concerns.


• Document specific developmental milestones or physical symptoms to provide your physician with an accurate clinical picture.

Medical Disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a qualified physician with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Trisomy 18.


• Orphanet: Trisomy 18 (Edwards syndrome).


• OMIM (Online Mendelian Inheritance in Man): Chromosome 18, Trisomy 18.


• SOFT (Support Organization for Trisomy 18, 13, and Related Disorders).