Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to moderate. 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 600 babies are born with Down syndrome.
What is Panorama?
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What Does Panorama Screen For?
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 they make it to term, most babies will pass away within the first few weeks of life. 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 may also have heart defects, extra fingers and/or toes, or an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Additional birth defects may include brain or spinal cord problems along with weak muscle tone. Given the severe disabilities, most pregnancies affected by trisomy 13 will miscarry; those babies that make it to term will usually pass away within the first few weeks of life. Trisomy 13 occurs in approximately 1 in 5,000 live births.
Babies with triploidy have a complete extra set of chromosomes for a total of 69 chromosomes instead of the usual 46. At 10 weeks gestation, one in 1,000 pregnancies is affected by triploidy. It is extremely rare for these pregnancies to reach term as they typically spontaneously miscarry early in pregnancy. Those few liveborns usually pass away within days of delivery due to heart, brain, and kidney problems. Babies with triploidy also often have birth defects affecting the extremities and face. Carrying a baby with triploidy can increase a mother's risk for a variety of conditions: pre-eclampsia (which can progress to life-threatening eclamptic seizures), excessive bleeding after delivery, and the possible development of a partial molar pregnancy, a type of gestational trophoblastic disease. In rare instances, molar pregnancies can progress to a type of cancer called choriocarcinoma and physicians need to know if a pregnancy was this type of triploidy so they can treat the woman appropriately.
Sex Chromosome Abnormalities
Babies with monosomy X are females who have one X chromosome instead of two. Unfortunately, a high proportion of pregnancies with monosomy X will result in a miscarriage in the first or second trimester of pregnancy. Babies with monosomy X that make it to term may have heart defects, learning difficulties, and infertility. In most cases, girls with monosomy X will need extra medical care including hormone therapies at various stages of life.
Babies with Klinefelter syndrome are males with an extra X chromosome. This condition can be associated with learning difficulties and behavioral problems; men with Klinefelter syndrome may be infertile. About 1 in 1,000 babies will be born with Klinefelter syndrome.
Babies with Triple X syndrome are females with an extra X chromosome. Triple X syndrome may be associated with taller than average stature and the presence of learning difficulties or behavioral problems. Approximately 1 in 800 girls will be born with an extra X chromosome.
Babies with XYY are males with an extra Y chromosome. Most babies with XYY syndrome do not have any birth defects. In childhood, boys with XYY may be tall for their age and some have an increased risk for learning, speech, and behavioral problems. Approximately 1 in 650 boys will be born with an extra Y chromosome.
The 22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2,000 babies is born with the 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 deletion syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems and/or seizures. About one in five children with the 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.
Prader-Willi syndrome happens when either a small piece of chromosome 15 is missing, or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome.
What Types of Results Will I Receive From Panorama?
Although the majority of pregnancies result in deliveries of healthy babies, every woman has a background risk for having a baby with a chromosomal abnormality. The Panorama screening test can estimate your pregnancy‐specific risk of having a baby with one of these conditions.
When you get your Panorama results, your report may state the following:
A Low Risk result indicates that it is unlikely that your baby is affected by one of the conditions on the Panorama panel. Note, however, that a low risk result does not guarantee a healthy pregnancy as Panorama is not a diagnostic test and only screens for certain conditions.
A High Risk result does not mean the baby has that condition; rather, it indicates a higher than average chance that your baby may have a chromosomal abnormality. Your health care provider may recommend an appointment with a genetic counselor to discuss high risk results with you in more detail; he or she may also recommend invasive diagnostic testing to confirm Panorama results.
In a small percentage of cases, Panorama may not be able to obtain sufficient information from your blood sample to determine an accurate result. If this occurs, a second blood sample may be requested.
Just as with other screening tests, Panorama may indicate High Risk results when your baby is healthy (false positive) or may miss a chromosomal abnormality (false negative) in the pregnancy. Given these possibilities, it is important to discuss all test results with your health care provider and obtain any recommended follow-up testing.
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