A Systematic Review Of Accuracy Of Microarray Analysis And Maternal Serum Free Fetal DNA For Prenatal Diagnosis Of Chromosomal Abnormalities

Objective:1. Microarray analysis is compared with karyotype for theaccuracy of the prenatal diagnosis of chromosomal abnormalities;2. Toevaluate the accuracy of maternal serum fetal free DNA used fornoninvasive prenatal diagnosis of chromosomal abnormalities.Methods:1. A literature search of Pubmed database, with keywords’chromosome’ and ’karyotype’ and ’genetic testing’ and ’prenatal diagnosis’and ’oligonucleotide array sequence’, articles screened to be scored byQUADAS, to analyze full-texts which are eligible;2. A literature search ofPubmed database with keywords ’prenatal’ and ’aneuploidy’ and’noninvasive’ or ’non-invasive’ and ’maternal’ to score articles byQUADAS, then analyze the full-texts which are eligible.Results:1. One article is eligible with a total of4406cases included inthe study, indications for prenatal diagnosis including advanced maternalage, people with positive Down’s screening results and abnormal ultrasoundexaminations, as well as other anomalies. Of4340(98.8%) specimens, microarray analysis was successful, and87.9%of the specimens without theneed for tissue culture. The karyotype identified4282cases of non-mosaicsamples and unbalanced rearrangements, which can be detected bymicroarray analysis. Microarray analysis failed to detect the balancedtranslocations and fetal triploidy. For samples with normal karyotypeanalysis but abnormal ultrasound examinations, microarray analysis candetect6%chromosomal deletions or duplications, in1.7%of women ofadvanced maternal age or positive Down’s screening results detected thesame chromosomal abnormalities.2. Four articles are included, noninvasiveprenatal diagnosis of4167cases of trisomy21syndrome, with a sensitivityof100%, while a specificity of99.3%; non-invasive prenatal diagnosis of3455cases of trisomy18,with a sensitivity of97.4%and a specificity of99.95%.Conclusion:1.Microarray analysis compared with karyotype forprenatal diagnosis can identify additional, clinically significant cytogeneticinformation and the same performance for aneuploid chromosomalabnormality and unbalanced rearrangements, but its deficiencies is that itcan not identify balanced translocation and triploidy.2. The maternal serumfetal free DNA used for noninvasive prenatal diagnosis of chromosomalabnormalities is of high accuracy.