In addition, the technology can identify haploidy and many cases of uniparental isodisomy
(UPiD), two additional types of chromosome abnormalities that may be missed on other PGS platforms.
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy
of chromosome 1.
In a case of NIPT positive for trisomy 21, quantitative fluorescent (QF)-PCR of a CVS sample at 14 weeks' gestation suggested isodisomy
type iUPD21 on the basis of 7 short tandem repeat (STR) markers all inherited from the mother.
The inheritance of two copies of an identical chromosome is known as isodisomy
, and results in whole chromosome ROH.