Panorama
Panorama test is a market-leading noninvasive prenatal screening test (NIPT) that reveals your baby’s risk for genetic disorders as early as nine weeks. Panorama analyzes baby's (placental) DNA through a simple blood draw from the mother’s arm.
Panorama is a screening test. Genetic counseling and diagnostic testing are recommended to confirm positive findings.
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.
Sex chromosome abnormalities
Sex chromosome abnormalities occur when there is an extra or missing copy of one of the sex chromosomes. One type of sex chromosome abnormality that affects girls is called Turner syndrome. Girls with Turner syndrome are missing one X chromosome. Other common sex chromosome abnormalities are caused by an extra chromosome. Although most affected individuals have an IQ that is in the normal range, some but not all, have learning disabilities or delays. In general, presentation is less severe than what is seen in trisomies 18, 13, and 21. Children with sex chromosomes abnormalities typically do not have major birth defects. The risk of some sex chromosome abnormalities increase with maternal age.
Triploidy
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.
Reporting sex of the baby
Among commercially available NIPTs, Panorama has the highest published accuracy in determining the sex of the baby. 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 of a genetic condition, or if there is a known family history of an x-linked condition, (for example, Duchenne Muscular Dystrophy) determination of the baby's sex by NIPT can help determine the need for further diagnostic testing in the pregnancy.