What is down's syndrome?
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Down syndrome is a condition in which a baby is born with an extra chromosome number 21. The extra chromosome is associated with delays in the child’s mental and physical development, as well as an increased risk for health problems.
Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21, also known as trisomy 21. This additional genetic material alters the course of development and causes the characteristics associated with the syndrome.
Diagnosis
➡️ Prenatal Screening :
• Blood tests and ultrasound exams in the first and second trimesters to assess the risk.
• Non-invasive prenatal testing (NIPT) can analyze fetal DNA in the mother’s blood for signs of Down syndrome.
➡️ Diagnostic Tests :
• Chorionic villus sampling (CVS) and amniocentesis, which involve testing a sample of placental tissue or amniotic fluid, respectively, for chromosomal abnormalities.
➡️ Postnatal Diagnosis :
• Physical examination of the baby and confirmation through a karyotype test, which analyzes the baby’s chromosomes.
While Down syndrome presents certain challenges, many individuals with the condition lead fulfilling lives with proper support and care.
Down syndrome is a genetic condition where a person is born with an extra copy of chromosome 21. This means that they have a total of 47 chromosomes instead of 46. This can affect how their brain and body develop. People diagnosed with Down syndrome have happy and healthy lives with supportive care.