Screening for fetal chromosomal anomalies such as Down syndrome has become a routine part of prenatal care, but it is possible only during pregnancy On the other hand, identifying pregnancies at risk for single-gene autosomal recessive disorders
, or "Mendelian" disorders, is possible as part of preconception care.
In case of autosomal recessive disorders
, the risk of having an affected child is 25 %, wherein the partners are carriers for the same genetic disorder.
It is not surprising to diagnose this association, since both are autosomal recessive disorders
in our country where consanguineous marriages are frequent.
Autosomal recessive disorders
, in which two genes must mutate in a person to appear, form an overwhelming proportion of genetic disorders in Omani patients, according to the study.
Since most autosomal recessive disorders
are associated with a loss of function, carriers of the disorder--the parents in this scenario--do not have symptoms since the normal gene on one of the chromosomes is capable of producing enough of the protein.
The exclusive, technology-independent, digital PCR rights announced today, which were developed and validated on Sequenom's MassARRAY([R]) platform and Fluidigm's platform, can be adapted for any of the digital PCR platforms that are available, and include the use of fetal nucleic acids obtained from a maternal sample, along with methods of analysis for noninvasive Down (trisomy 21), Edward (trisomy 18), Patau (trisomy 13) and other chromosomal aneuploidy syndrome diagnoses or other autosomal recessive disorders