Patient's question:
High-risk Down syndrome screening 1/50, amniocentesis and gene chip were performed in May. The gene chip results have come back with no issues, but the amniocentesis results have not yet been released.Doctor's answer:
Specimens obtained after amniocentesis can be used for karyotype analysis or gene chip testing. Karyotype analysis targets the number of chromosomes, as well as large segment deletions, duplications, and translocations, but it cannot detect small segment chromosomal deletions or duplications. Gene chips can detect micro-deletions or micro-duplications of chromosomal segments, but they cannot identify translocations without segmental increases or decreases. Therefore, the two methods can complement each other. Generally, if no abnormalities are found on the gene chip, it can be considered that the fetus will not have a chromosomal disorder. However, it cannot be ruled out that the fetus may have a translocation.