Prenatal Testing with panorama – Trisomy
A trisomy is a genetic condition caused by extra copies of a chromosome. Down syndrome, one of the most well-known genetic conditions, is caused by an extra copy of chromosome 21. Generally, the larger the extra chromosome is in size, the more severe problems it will cause. For instance, chromosome 21 is the second smallest autosomal chromosome, and babies with Down syndrome often lead healthy and productive lives. However, babies with Trisomy 13, or Patau syndrome, will typically pass away within the first few weeks of life.
Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.
Babies with trisomy 18 have three copies of chromosome 18 and have severe intellectual disabilities and birth defects typically involving the heart, brain, and kidneys. Babies with trisomy 18 can also have visible birth defects such as an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), small head, clubbed feet, underdeveloped fingers and toes, and a small jaw. Unfortunately, most pregnancies with trisomy 18 will miscarry. If born alive, most affected babies with trisomy 18 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 18 occurs in approximately 1 in 3,000 live births.
Babies with trisomy 13 have three copies of chromosome 13 and have severe intellectual disabilities. They often have birth defect involving the heart, brain and kidneys. Visible abnormalities include extra fingers and or toes or an opening in the lip, with or without an opening in the palate. Given the severe disabilities, most pregnancies affected by trisomy 13 will miscarry. If born alive, most affected babies with trisomy 13 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 13 occurs in approximately 1 in 5,000 live births.
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