![]() ![]() Maternal serum screening tests are less accurate than Panorama*. Older screening tests that measure hormones in a pregnant woman’s blood (called maternal serum screening tests) can also tell you if there is a high chance your baby has a chromosomal condition, such as Down's syndrome. Panorama is not the only screening test available during pregnancy. As children and adults, they have rapid weight gain and often develop obesity-related medical problems. Prader-Willi syndrome (occurs in about 1 in 10,000 births) Babies born with Prader-Willi syndrome have low muscle tone and problems with feeding and gaining weight. They have moderate-to-severe intellectual disability. Feeding and breathing difficulties are also common. They also have severe intellectual disability and most do not develop speech.Ĭri-du-chat syndrome, also known as 5p minus (occurs in about 1 in 20,000 births) Babies born with Cri-du-chat syndrome typically have low birth weight, small head size, and decreased muscle tone. About half will have seizures.Īngelman syndrome (occurs in about 1 in 12,000 births) Babies born with Angelman syndrome often have delayed milestones (like sitting, crawling and walking), seizures, and problems with balance and walking. Up to 25% of individuals with this syndrome develop schizophrenia in adulthood.ġp36 deletion syndrome (occurs in about 1 in 5,000 births) Babies born with 1p36 deletion syndrome have weak muscle tone, heart and other birth defects, intellectual disabilities, hearing loss and behavior problems. They may also have kidney problems, feeding problems, and/or seizures. Panorama screens for five microdeletions, all of which can be associated with serious health issues:Ģ2q11.2 deletion syndrome / DiGeorge syndrome (occurs in about 1 in 2,000 births) Babies born with 22q11.2 deletion syndrome often have heart defects, immune system problems, and mild-to-moderate intellectual disability. While many microdeletions have little impact on a child's health and life, there are some that can cause intellectual disabilities and birth defects. In many cases, there are no obvious ultrasound abnormalities that would suggest the fetus has a microdeletion. Unlike Down's syndrome, which occurs more frequently in mothers who are 35 and older, microdeletions occur in pregnancies at the same rate for mothers of any age. Panorama also screens for five microdeletion syndromes.Ī small, missing (or "deleted") piece of a chromosome is called a microdeletion. Boys with this condition tend to be taller than average and may have associated mild learning and behavioral difficulties. XYY syndrome: This is caused by an extra copy of the Y chromosome, is also known as 47, XYY and only affects boys. Some girls with triple X syndrome have learning disabilities, some have emotional problems and most are taller than average. Triple X syndrome: This is caused by an extra copy of the X chromosome, is also known as 47, XXX and only affects girls. Boys with Klinefelter syndrome may have learning disabilities, tend to be taller than average, and most men with this condition are infertile. Klinefelter syndrome: This is caused by an extra copy of the X chromosome, is also known as 47, XXY and only affects boys. It is important for the doctor to know about triploidy even if the mother miscarries so that she can be monitored for complications. Babies with triploidy rarely make it to term and those that do usually pass away within a few months after delivery. A triploid pregnancy can cause serious complications for the mother, such as excessive bleeding after delivery and a risk of developing cancer. Triploidy: This condition is caused by having an extra set of 23 chromosomes (for a total of 69) and is associated with severe birth defects. Girls with Monosomy X may have heart defects, hearing problems, minor learning disabilities and are usually shorter than average. Monosomy X (also called Turner syndrome or 45, X): This is caused by a missing X chromosome and affects only girls. Babies with Patausyndrome usually pass away before one year of age. It also causes many serious birth defects. ![]() This causes severe intellectual disability. Trisomy 13: This is caused by an extra copy of chromosome 13 and is also called Patau syndrome. Babies with Edwards syndrome usually pass away before one year of age. It also causes serious birth defects of the heart, brain and other organs. Trisomy 18: This is caused by an extra copy of chromosome 18 and is also called Edwards syndrome. It may also cause certain birth defects of the heart or other organs and may cause hearing or vision problems. This is the most common cause of intellectual disability. Risomy 21:TThis is caused by an extra copy of chromosome 21 and is also called Down's syndrome. ![]()
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