The aim of such testing is to reveal an early state of genetic disorders such as trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (
Patau syndrome), and monosomy X (Turner syndrome).
Janini is a Non-Invasive Prenatal Test (NIPT) that screens for the three most common 'trisomy' conditions; Down's Syndrome, Edwards' Syndrome and
Patau Syndrome, caused by extra or missing genetic information in the baby's DNA, in addition to the baby's gender.
And it has been found more frequently in infants with
Patau syndrome (trisomy 13 with a Robertsonian translocation) (Aziz, 1980) and Edward syndrome (trisomy 18) at autopsy (Bersu & Ramirez-Castro, 1977).
M2 EQUITYBITES-November 9, 2017-New DNA test for Down's, Edwards and
Patau syndrome heralded as 'transformational' by doctors
M2 PHARMA-November 9, 2017-New DNA test for Down's, Edwards and
Patau syndrome heralded as 'transformational' by doctors
Amongst the most common of the chromosome abnormalities that continue during pregnancy are trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome); trisomy 13, (
Patau syndrome); Turner syndrome (typically inheritance of one X chromosome instead of two) and triploidy (more than one set of chromosomes).
Kyle, nine, has
Patau syndrome, leaving him unable to walk or talk.
NIPT is used for screening pregnant women at high risk of developing fetal chromosomal aneuploidies such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18),
Patau syndrome (trisomy 13), and Turner syndrome (monosomy X) along with fetal sex determination.
(2) Most women are offered screening for trisomies 21 (Down syndrome), 18 (Edwards syndrome), and 13 (
Patau syndrome).