VP28.15: Can chromosomal microarray analysis for prenatal diagnosis in fetuses with structural abnormalities replace karyotyping? Our initial experience

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

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Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital

Journal of International Medical Research ◽

10.1177/0300060519853405 ◽

2019 ◽

Vol 47 (11) ◽

pp. 5508-5517 ◽

Cited By ~ 3

Author(s):

Jun-Ling Yi ◽

Wei Zhang ◽

Da-Hua Meng ◽

Li-Jie Ren ◽

Jin Yu ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Microarray Analysis ◽

Relevant Information ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Incremental Value ◽

Genetic Abnormalities ◽

Fetal Ventriculomegaly ◽

And Child Health ◽

Health Hospital

Objective To evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA. Methods This retrospective study enrolled female patients with ultrasonographically diagnosed fetal ventriculomegaly. The prevalence, associated anomalies and clinical outcomes of ventriculomegaly were evaluated based on data from a single maternal and child health hospital in southwest China. Results A total of 943 cases of ventriculomegaly were analysed in this study, which were diagnosed at a mean ± SD gestational age of 23.8 ± 8.2 weeks. Non-isolated ventriculomegaly cases had a significantly higher maternal age than isolated cases (29.6 ± 5.5 versus 27.9 ± 4.2 years, respectively) and were also associated with a larger proportion of bilateral (56.1% versus 46.7%, respectively) and severe (12.8% versus 3.7%, respectively) ventriculomegaly. There were 97 cases detected by both karyotyping and microarray analysis. All apparent chromosome abnormalities identified upon karyotyping were detected with the use of microarray analysis. Microarray analysis also reported genetic abnormalities in 20 additional cases not detected by karyotyping. Of these additional 20 cases, 9.3% of pregnancies reported standard genetic variants for clinically relevant information, whereas 11.3% reported uncertain genetic abnormalities. Conclusion Chromosomal microarray analysis is an efficient tool, significantly increasing the diagnostic power for prenatal diagnosis.

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Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells

Reproductive Sciences ◽

10.1177/1933719118804416 ◽

2018 ◽

Vol 26 (7) ◽

pp. 1005-1012 ◽

Cited By ~ 5

Author(s):

Chunyan Li ◽

Biliang Chen ◽

Jiao Zheng ◽

Lu Cheng ◽

Tingting Song ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Amniotic Fluid ◽

Sex Chromosome ◽

Trisomy 13 ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Microdeletion Syndromes ◽

Structural Abnormalities ◽

Chromosomal Aneuploidies

Objective: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes. Methods: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation. Results: The overall abnormality detection rate (BoBs combined with karyotyping) was 7.73% (282/3647). A total of 209 chromosomal aneuploidies, 10 mosaic cases, 11 microdeletion/microduplication syndromes, and 52 structural abnormalities were observed. Both assays were concordant for trisomy 21 (4.22%, 154/3647), trisomy 18 (0.69%, 25/3647), trisomy 13 (0.05%, 2/3647), and sex chromosome aneuploidies (0.77%, 28/3647). Meanwhile, DiGeorge syndrome (0.05%, 2/3647), 22q11.2 microduplication (0.08%, 3/3647), Smith-Magenis syndrome (0.03%, 1/3647), 17p11.2 microduplication (0.03%, 1/3647), Wolf-Hirschhorn syndrome (0.03%, 1/3647), Williams-Beuren syndrome (0.03%, 1/3647), Cri du Chat syndrome (0.03%, 1/3647), and Miller-Dieker syndrome (0.03%, 1/3647) were identified by BoBs assay, thus giving the incidence of the detection of these syndromes of 0.30% (11/3647). Conclusion: BACs-on-Beads assay is a reliable test for rapid detection of common aneuploidies and microdeletion syndromes, combining with karyotyping, FISH, and CMA, to improve the efficiency and accuracy of prenatal diagnosis to alleviate maternal emotional anxiety.

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