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How is Edwards syndrome diagnosed?

See how Edwards syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Edwards syndrome

Edwards syndrome diagnosis

Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18. It is named after John Hilton Edwards, the physician who first described the condition in 1960. Edwards syndrome is a relatively rare condition, occurring in approximately 1 in 5,000 live births.



Diagnosing Edwards syndrome can be challenging, as it involves a combination of prenatal screening tests, diagnostic tests, and clinical evaluation. The goal is to identify any abnormalities or markers that may indicate the presence of trisomy 18.



Prenatal screening tests are typically the first step in diagnosing Edwards syndrome. These tests are non-invasive and aim to assess the risk of chromosomal abnormalities in the fetus. The two most common screening tests are:




  • First trimester screening: This involves a combination of a blood test and an ultrasound examination. The blood test measures specific hormones and proteins in the mother's blood, while the ultrasound assesses the thickness of the nuchal translucency (a fluid-filled space at the back of the baby's neck). Abnormal results may indicate an increased risk of Edwards syndrome.

  • Quad screen: This blood test is usually performed between 15 and 20 weeks of pregnancy. It measures the levels of four substances in the mother's blood, including alpha-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A. Deviations from the normal levels may suggest a higher risk of chromosomal abnormalities.



If the results of the screening tests indicate a higher risk of Edwards syndrome, further diagnostic tests may be recommended. These tests provide more definitive information about the presence of trisomy 18. The most common diagnostic tests include:




  • Amniocentesis: This procedure involves the extraction of a small amount of amniotic fluid surrounding the fetus. The fluid contains fetal cells that can be analyzed for chromosomal abnormalities. Amniocentesis is usually performed between 15 and 20 weeks of pregnancy and carries a small risk of miscarriage.

  • Chorionic villus sampling (CVS): CVS involves the removal of a small sample of placental tissue for genetic analysis. It can be performed earlier in pregnancy, typically between 10 and 13 weeks. Like amniocentesis, CVS carries a small risk of miscarriage.



Both amniocentesis and CVS provide highly accurate results, as they directly analyze the fetal chromosomes. However, it's important to note that these tests are invasive and carry a small risk to the pregnancy.



In addition to prenatal screening and diagnostic tests, clinical evaluation is crucial in diagnosing Edwards syndrome. This involves a thorough physical examination of the baby after birth, looking for characteristic features associated with trisomy 18. Some common physical findings in infants with Edwards syndrome include:




  • Prominent occiput (back of the head)

  • Low-set ears

  • Rocker-bottom feet (a curved shape of the soles of the feet)

  • Clenched fists with overlapping fingers

  • Small jaw and mouth

  • Heart defects

  • Kidney abnormalities

  • Delayed growth and development



It's important to note that not all infants with Edwards syndrome will exhibit all of these features, and some may have additional abnormalities not listed here.



In summary, diagnosing Edwards syndrome involves a combination of prenatal screening tests, diagnostic tests, and clinical evaluation. Prenatal screening tests help assess the risk of chromosomal abnormalities, while diagnostic tests provide more definitive information about the presence of trisomy 18. Clinical evaluation after birth is also crucial in identifying characteristic physical features associated with Edwards syndrome.


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My daughter Lauren was diagnosed with t18 at 22 weeks.After a detailed scan then an amino.Drs advised Lauren"was not compatible with life"and to terminate pregnancy.Wee had over that weekend to decide.So it was either take tablets and come back to ho...

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