Are you thinking of having a family? Or recently pregnant? For those concerned with potential health risks that could be or have been passed to your children, there are tests available that provide an overview of those risks. Some tests look for deviations in genes that you could pass on before becoming pregnant, and others look for existing genetic anomalies and can confirm gender once you are pregnant.
With reproductive testing, we recommend booking an additional appointment with a genetic counsellor to get a better understanding of your results. Your Copeman care team will also receive a copy of the results and discussion notes.
Panorama is a type of non-invasive prenatal testing (NIPT) done as early as nine weeks gestation for pregnant women looking to learn more about the health of their baby. The test analyzes a baby’s (placental) DNA through a simple blood draw from the mother’s arm. It will screen for whole extra or missing chromosomes, looks for markers of abnormality, can confirm fetal sex, and zygosity in twin pregnancies (whether they are identical or fraternal).
While Panorama cannot screen for all chromosomal abnormalities, it is the only test on the market that checks for the most common microdeletion syndromes, specifically those which occur at a rate of 1 in 1000 pregnancies. Examples of these are DiGeorge syndrome, Angelman syndrome, Cri-du-chat syndrome and Prader-Willi syndrome.
Unlike other prenatal tests, Panorama is appropriate for women carrying twins or who have used a donor egg or surrogate. Unfortunately, it is not appropriate for women who’ve received a bone marrow transplant.
There are three tests available:
Panorama Prenatal Test (Basic) – Testing of chromosomes 21, 13, 18, X, Y and triploidy*
Panorama Prenatal Test Level 2 – As above* plus 22q11.2 deletion (only relevant with family history or based on ultrasound findings)
Panorama Prenatal Test Level 3 – As above* plus microdeletion extended panel (including Cri-du-chat,1p36 deletion, Angelman & Prader-Willi Syndromes)
*Monosomy X + triploidy not screened in dizygotic pregnancies or pregnancies conceived with an egg donor or surrogate