Abstract
BackgroundTo explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis.MethodsThe results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound abnormality group and the ultrasound abnormality group were compared separately. Within the ultrasound abnormality group, the results of the ultrasound structural malformation group, the ultrasound soft index abnormality group, and other ultrasound abnormality (including abnormal amniotic fluid volume and fetal growth restriction) groups were compared.ResultsAbnormal chromosome and CMA results were found in a total of 71 cases (15.88%, 71/447), which can be broken down into a total of 23 karyotype abnormalities (5.15%, 23/447), consisting of 18 cases of aneuploidy (4.03%, 18/447), 2 cases of unbalanced chromosome rearrangements (0.44%, 2/447), and 3 cases of chimerism (0.67%, 3/447); 17 cases with detection of pathogenic copy number variations (pCNVs) (3.80%, 17/447); and 31 cases of detection of clinical variants of unknown significance (VOUS) (6.93%, 31/447). CMA detected 3.8% more genetic abnormalities than karyotype analysis (in addition to the abnormalities detected simultaneously by karyotype analysis). Between the no ultrasound abnormality group and the ultrasound abnormality group, there was an extremely significant difference in the detection rate of an abnormal chromosomal karyotype (P < 0.01) and of VOUS (P < 0.01), but there was no significant difference in the detection rate of pCNV (P > 0.05). Comparing the ultrasound structural malformation group, the ultrasound soft index abnormality group, and the other ultrasound abnormality group, there were no significant differences in the detection rate of abnormal chromosomal karyotypes (P > 0.05), pCNV (P > 0.05) or VOUS (P > 0.05).ConclusionsThe detection rate of chromosomal karyotype abnormalities in prenatal diagnosis in cases with no ultrasound abnormalities was higher. For cases with fetal ultrasound structural abnormalities, when compared with traditional karyotype analysis, CMA can improve the detection rate of fetal genetic abnormalities. However, the no ultrasound abnormality group also had a high VOUS abnormality detection rate, so it is necessary to strictly define the CMA indications.
Highlights
To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis
Pathogenic copy number variations (PCNVs) fetus results One of the 17 pathogenic copy number variations (pCNVs) cases had a small deletion of the Y chromosome
Our study found that CMA can detect 3.8% more definite genetic abnormalities than karyotype analysis, which is lower than most previous findings [4, 5]
Summary
To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Chromosome G-band karyotyping analysis is widely used as a method for Chromosomal microarray analysis (CMA) is an emerging molecular genetic detection technology in the field. Xia et al BMC Pregnancy and Childbirth (2020) 20:696 of prenatal diagnosis. This approach can accurately detect the number and structural abnormalities of chromosomal imbalances and detect chromosomal alterations such as microdeletions and microduplications. We analyzed the results of 477 cases that underwent interventional prenatal diagnosis for different reasons, all of which underwent both chromosome karyotype analysis and CMA detection, to explore the value of CMA in prenatal diagnosis
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