Edwards Syndrome (Trisomy 18) Prenatal Blood Test

What is Edwards Syndrome (Trisomy 18)?

Edwards syndrome (Trisomy 18) is a genetic disorder caused by an extra copy of chromosome 18 that affects fetal development. It is caused by chromosomal nondisjunction during cell division, resulting in three copies of chromosome 18 instead of two. The Estriol LC/MS/MS Serum test is the most important prenatal blood screening for assessing Edwards syndrome risk during pregnancy.

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What causes Edwards syndrome?

Edwards syndrome is caused by an extra copy of chromosome 18, which occurs due to a random error during the formation of egg or sperm cells. This chromosomal abnormality, called trisomy 18, happens when cells divide incorrectly and create reproductive cells with an extra chromosome. When fertilization occurs with these cells, the developing baby has three copies of chromosome 18 in every cell instead of the normal two, disrupting normal development and causing severe physical and intellectual disabilities.

What is the best test for Edwards syndrome?

The Estriol LC/MS/MS Serum test is the most important blood screening for Edwards syndrome because it measures estriol hormone levels that are typically reduced when a fetus has trisomy 18. This test is part of prenatal screening panels and helps identify pregnancies at higher risk that may need further diagnostic testing. While blood screening indicates risk levels, definitive diagnosis requires genetic testing through amniocentesis or chorionic villus sampling (CVS), which directly analyzes fetal chromosomes. The estriol test is valuable because it is non-invasive and can be performed early in pregnancy to guide decisions about additional testing.

When should I get tested for Edwards syndrome?

You should get tested if you are pregnant and want to assess your baby's risk for chromosomal abnormalities, especially if you are over age 35, have a family history of genetic disorders, or have abnormal ultrasound findings. Prenatal screening with estriol testing is typically performed during the second trimester between weeks 15-20 of pregnancy. Testing is also recommended if you have had a previous pregnancy affected by Edwards syndrome or other chromosomal conditions, as early detection allows for informed decision-making and appropriate pregnancy management.

What are the symptoms of Edwards syndrome?
Edwards syndrome causes severe developmental abnormalities that are often detected during pregnancy through ultrasound. Babies with trisomy 18 typically have a small, abnormally shaped head, clenched fists with overlapping fingers, low birth weight, heart defects, kidney problems, and distinctive facial features including a small jaw and low-set ears. Most affected pregnancies result in miscarriage or stillbirth, and babies who survive to birth often have serious medical complications affecting multiple organ systems. Physical signs may include rocker-bottom feet, omphalocele (abdominal organs protruding), and severe intellectual disability.
Who is at risk for Edwards syndrome?
All pregnant women have some risk for Edwards syndrome, but the risk increases significantly with maternal age, particularly after age 35. Women over 40 have the highest risk due to increased chromosomal errors during egg cell formation. The condition occurs in approximately 1 in 5,000 live births but is much more common in pregnancies that end in miscarriage. Unlike some genetic conditions, Edwards syndrome is not typically inherited and occurs randomly, meaning parents without any family history can have an affected pregnancy. Previous pregnancy with trisomy 18 slightly increases recurrence risk but remains relatively low.
What happens if Edwards syndrome is left undiagnosed?
If Edwards syndrome goes undiagnosed during pregnancy, it can lead to unexpected complications during delivery and immediately after birth, leaving parents unprepared for the serious medical challenges their baby will face. Babies with trisomy 18 require immediate specialized medical care, including potential surgery for heart defects and intensive nutritional support. Without prenatal diagnosis, families miss the opportunity to receive genetic counseling, plan for specialized delivery care, and make informed decisions about pregnancy management. Most babies with Edwards syndrome (more than 90%) do not survive beyond their first year, and early diagnosis allows families to prepare emotionally and connect with support resources.
Can Edwards syndrome be diagnosed with a blood test?
Blood tests cannot definitively diagnose Edwards syndrome but they are essential screening tools that assess risk levels during pregnancy. The estriol blood test, along with other prenatal markers, can indicate an increased likelihood of trisomy 18, prompting further diagnostic testing. Definitive diagnosis requires genetic testing through amniocentesis or chorionic villus sampling, which directly examines fetal chromosomes. Blood screening is non-invasive and safe, making it a valuable first step in identifying pregnancies that need more comprehensive genetic analysis.
How is Edwards syndrome treated?
Edwards syndrome has no cure, and treatment focuses on managing symptoms and providing comfort care for affected babies. Medical interventions may include surgery to correct heart defects, feeding tubes for nutritional support, and medications to manage complications. Many families choose palliative care approaches that prioritize quality of life and comfort rather than aggressive interventions, given the poor prognosis. Treatment decisions are highly individualized and made in consultation with medical specialists, genetic counselors, and family support teams. Early prenatal diagnosis allows families to plan for specialized delivery care and connect with neonatal specialists before birth.
How can I prevent Edwards syndrome?
Edwards syndrome cannot be prevented as it results from a random chromosomal error during cell division that is not caused by anything parents did or did not do. However, prenatal screening and genetic counseling can help identify at-risk pregnancies early. Women planning pregnancy can optimize their overall health through proper nutrition, prenatal vitamins with folic acid, and avoiding harmful substances, though these measures do not prevent chromosomal abnormalities like trisomy 18. For women with previous affected pregnancies or advanced maternal age, early and comprehensive prenatal screening allows for informed decision-making.
What support is available for families affected by Edwards syndrome?
Families affected by Edwards syndrome can access multiple support resources including genetic counseling services that provide detailed information about the condition and help with decision-making. Support groups, both in-person and online, connect families experiencing similar challenges and provide emotional support throughout pregnancy and after birth. Perinatal hospice programs offer compassionate care planning for families who choose to continue pregnancies, while bereavement counseling helps families cope with pregnancy loss or infant death. Medical teams specializing in high-risk pregnancies and neonatal care provide comprehensive medical support, and organizations like the Trisomy 18 Foundation offer educational resources and family connections.
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