Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of a third copy of chromosome 18 in some or all of a person's cells. This extra chromosome disrupts normal development and often leads to severe medical complications.
Understanding Trisomy 18
Trisomy 18 occurs when there's an error during cell division, resulting in an embryo with three copies of chromosome 18 instead of the usual two. This extra genetic material disrupts the typical course of development, affecting many organs and systems in the body.
Common Characteristics of Edwards Syndrome
Individuals with Edwards syndrome frequently exhibit several characteristic features, including:
- Slow growth before birth (intrauterine growth retardation): Babies with Trisomy 18 often grow more slowly in the womb than typical babies.
- Low birth weight: They are frequently born weighing significantly less than average.
- Heart defects: Heart abnormalities are common.
- Brain abnormalities: Various brain malformations can occur.
- Distinct facial features: These may include a small head (microcephaly), a small jaw (micrognathia), and a cleft lip or palate.
- Clenched fists: Often with the index and little fingers overlapping the other fingers.
- Rocker-bottom feet: A rounded shape to the soles of the feet.
Diagnosis and Prognosis
Edwards syndrome can be diagnosed during pregnancy through prenatal screening tests like amniocentesis or chorionic villus sampling. After birth, a physical exam and chromosomal analysis can confirm the diagnosis.
The prognosis for individuals with Edwards syndrome is generally poor. Many affected pregnancies end in miscarriage or stillbirth. Infants born with Edwards syndrome often have significant health problems, and survival beyond the first year is uncommon. However, the severity of the condition varies, and some individuals may live longer, though they typically experience significant developmental and physical challenges.
Support and Resources
Families affected by Edwards syndrome can find support and resources through various organizations dedicated to providing information, counseling, and advocacy. These organizations can help families navigate the challenges associated with this complex condition.
