Most results will be returned to your doctor within calendar days from the date that samples are received. A high risk result means that your pregnancy has a higher chance of having a specific genetic condition. However, you cannot know for sure if your baby has that condition based upon the screening result alone. All medical decisions should be made after discussion with your healthcare provider regarding diagnostic testing during the pregnancy, like chorionic villus sampling CVS or amniocentesis, or testing the baby after birth.
Pregnancy can be exciting for families, and also bring concerns about medical decisions or the challenges of parenting. Prenatal screening offers genetic insights early in pregnancy about the health of a pregnant person and their growing baby. All results included in the analysis were validated with genetic confirmation.
Others, such as microdeletions, occur when a chromosome is missing a small piece of genetic information. Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. 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.
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 , a 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, live births. Babies with trisomy 13 have three copies of chromosome 13 and have severe intellectual disabilities. They often have birth defects involving the heart, brain, and kidneys. Given the severe disabilities, most pregnancies affected by trisomy 13 will miscarry.
