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Panorama screens for the most common genetic conditions and the baby’s gender (optional). Some conditions, such as Down syndrome, are caused by extra copies of a specific chromosome. Others, such as microdeletions, occur when a chromosome is missing a small piece of genetic information. Microdeletions affect women equally, regardless of age.
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.
Panorama is currently the only NIPT that tests for triploidy.
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 lead to seizures) and excessive bleeding after delivery. In rare instances, triploid pregnancies can persist and progress to a type of cancer called choriocarcinoma. Knowing about triploidy allows the physician to monitor the health of the mother appropriately.
Among commercially available NIPTs, Panorama has the highest published accuracy in determining the baby's gender.
Panorama’s ability to analyze SNPs unique to the Y chromosome and to detect the presence of vanishing twin pregnancies helps to overcome causes of inaccurate gender reporting common with other technologies.
If the mother is a known carrier, or if there is a known family history for an X-linked condition, (example Duchenne muscular dystrophy) fetal sex determination by NIPT can help determine the need for further diagnostic testing in the pregnancy.