In summary, 4.7% of cases were detected as having chromosomal trisomy 13
, 18 or 21 (102/2185), 2.4% (52/2185) of cases had other chromosomal rearrangements, and in 0.7% (15/2185) of cases, single gene disorders were present (Table 2).
For trisomy 18 and trisomy 13
, 9% (6/67) screened positive in each group.
Your patient's results are positive for trisomy 13
. Her understanding is that the test is more than 99% accurate, and she interprets this to mean that the chance of trisomy 13
in her fetus is more than 99%.
For example, if an ultrasound shows holoprosencephaly, and NIPS shows trisomy 13
, the likelihood of trisomy 13
is greater than 95%, he explained, adding that other scenarios, such as detecting partial deletions or duplications, is much less clear.
When Kay, of Catton, Northumberland, went for her 12-week scan, she and husband Jeffrey, a submariner, were told their unborn child was suffering from a rare genetic disorder called Trisomy 13
. The condition is associated with severe disabilities and often causes heart defects and brain or spinal cord abnormalities.
The use of noninvasive prenatal testing (NIPT) is growing in popularity, but its usefulness is narrow, focusing on three chromosomal abnormalities (trisomy 13
, 21, and 18), while traditional diagnostic tests provide a broad screen for a wide array of abnormalities, she said.
During the blind clinical test, the foetus' sex was also predicted with 100 per cent accuracy, while it had very high levels of success in detecting trisomy 18 (Edward's syndrome), trisomy 13
(Patau syndrome) and monosomy X (Turner syndrome).
The incidence of chromosome abnormalities such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13
increases with maternal age.
"I know from experience the challenges they face, because I cared for and lost my youngest son due to complications from a rare congenital disease called trisomy 13
," said Sen.
The conditions, also known as Trisomy 18 and Trisomy 13
, affect two out of every 10,000 births in the UK each year.
Her clinical picture involves the mosaic form of Patau syndrome, also known as trisomy 13
, which has caused severe mental retardation and restrains the development of her speech.
Poor families caring for a family member with a rare disease would have no fighting chance, however, since they do not have access to quality and affordable medical care," Cayetano, who lost her youngest child Gabriel from complications of a rare congenital disease called trisomy 13
, also known as Patau Syndrome in 2001, said.