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Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies
| Content Provider | MDPI |
|---|---|
| Author | Hsiao, Ching-Hua Chen, Jia-Shing Shiao, Yu-Ming Chen, Yann-Jang Chen, Ching-Hsuan Chu, Woei-Chyn Wu, Yi-Cheng |
| Copyright Year | 2022 |
| Description | Background: To assess the value of chromosomal microarray analysis (CMA) during the prenatal diagnosis of high-risk pregnancies. Methods: Between January 2016 and November 2021, we included 178 chorionic villi and 859 amniocentesis samples from consecutive cases at a multiple tertiary hospital. Each of these high-risk singleton pregnancies had at least one of the following indications: (1) advanced maternal age (AMA; ≥35 years; 546, 52.7%); (2) fetal structural abnormality on ultrasound (197, 19.0%); (3) high-risk first- or second-trimester Down syndrome screen (189, 18.2%), including increased nuchal translucency (≥3.5 mm; 90, 8.7%); or (4) previous pregnancy, child, or family history (105, 10.1%) affected by chromosomal abnormality or genetic disorder. Both G-banding karyotype analysis and CMA were performed. DNA was extracted directly and examined with oligonucleotide array-based comparative genomic hybridization. Results: Aneuploidies were detected by both G-banding karyotyping and CMA in 42/1037 (4.05%) cases. Among the 979 cases with normal karyotypes, 110 (10.6%) cases had copy number variants (CNVs) in CMA, including 30 (2.9%) cases with reported pathogenic and likely pathogenic CNVs ≥ 400 kb, 37 (3.6%) with nonreported VOUS, benign, or likely benign CNVs ≥ 400 kb, and 43 (4.1%) with nonreported CNVs < 400 kb. Of the 58 (5.6%) cases with aneuploidy rearrangements, 42 (4.1%) were diagnosed by both G-banding karyotyping and CMA; four inversions, six balanced translocations, and six low mosaic rates were not detected with CMA. Conclusions: CMA is an effective first step for the prenatal diagnosis of high-risk pregnancies with fetal structural anomalies found in ultrasonography or upon positive findings. |
| Starting Page | 3624 |
| e-ISSN | 20770383 |
| DOI | 10.3390/jcm11133624 |
| Journal | Journal of clinical medicine |
| Issue Number | 13 |
| Volume Number | 11 |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2022-06-23 |
| Access Restriction | Open |
| Subject Keyword | Journal of clinical medicine Journal of Clinical Medicine Womens Studies Chromosomal Microarray Analysis (cma) Copy Number Variants (cnvs) Variants of Unknown Significance (vous) Amniotic Fluid (af) Chorionic Villus Sampling (cvs) |
| Content Type | Text |
| Resource Type | Article |
