| 摘要 |
<p>Methods, apparatuses, and system are provided for analyzing a maternal sample to determine whether a male fetus of a pregnant female has inherited an Xiinked mutation from the a mother. A percentage of fetal DNA in the sample is obtained, and cutoff values for the two possibilities (fetus inherits mutant or normal allele) are determined. A proportion of mutant alleles relative to a normal allele on the X-chromosome can then be compared to the cutoff values to make a classification of which allele is inherited, Alternatively, a number of alleles from a target region on the X-chromosome can be compared to a number of alleles from a to reference region on the X-chromosome to identify a deletion or amplification, The fetal DNA percentage can be computed by counting reactions with a fetal specific allele, and correcting the number to account for a statistical distribution among the reactions.</p> |
