Non-invasive prenatal testing is done for screening pregnant women who are at high risk of delivering babies with fetal chromosomal disorders such as Edwards syndrome, Down syndrome, Turner syndrome, Patau
syndrome, and others.
Two fetuses had chromosomal abnormalities confirmed on genetic karyotyping, one Klinefelter syndrome and the other Patau
From the Same But Different project, left, Isabel Gardner, aged six, from Flint, has encephalitis, centre, Matthew Hogg, eight, from Mold, has Crouzon syndrome, and, right, Natalia Traista, 13, from Hope, has Patau
The new non-invasive test for Down Syndrome, also known as trisomy 21, can be taken by any pregnant woman in Cyprus and abroad who wants to safely know early in her pregnancy if her child will be born with Down Syndrome or other syndromes such as Edwards, Patau
Tests for Down, Turner, Patau
and Edwards Syndromes all came back negative, as did further genetic testing.
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.
Ella Bewshear is one of only a handful of people in the UK afflicted by Patau
syndrome - 90% of those born with the condition die within their first year.
Chromosomal rearrangements or local mutations within the genome can disrupt normal development, such as with Down and Patau
Ashley Mawson's diagnosis of Patau
Syndrome or Trysomy 13 - a rare chromosome abnormality - meant he had just a one in 20 chance of surviving beyond six months old.
Some 27 per 10,000 babies across Wales and England are also affected by Down's syndrome, two per 10,000 by another chromosomal condition called Patau
syndrome and seven per 10,000 by Edwards syndrome.
Among some Muslim families in villages in Mukim Kirokot and Mukim Patau
, however, it is declining in favor of a new one-day hari keluarga (Malay: 'family day').
The test may also be refined to reveal two other chromosomal disorders, Patau
and Edward's syndromes.