| 主权项 |
1. A method for detecting a chromosomal aneuploidy relating to a target nucleic acid region, the method comprising:
obtaining a reference database, wherein the reference database is established by sequencing a plurality of reference biological samples by a sequencing platform; determining at least one normalizing factor based on the reference database; determining a cutoff value based on the reference database; sequencing a biological sample under test by the sequencing platform to obtain a number of target reads of the biological sample under test, wherein the biological sample under test is obtained from a pregnant female and has nucleic acid molecules from the pregnant female and a fetus thereof, and the target reads of the biological sample under test originate from the target nucleic acid region; normalizing the number of the target reads of the biological sample under test by the normalizing factor; comparing the normalized number of the target reads of the biological sample under test with the cutoff value; and determining whether the chromosomal aneuploidy relating to the target nucleic acid region is present in the fetus based on the comparison. |
