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Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis.

Sun L, Wu Q, Jiang SW, Yan Y, Wang X, Zhang J, Liu Y, Yao L, Ma Y, Wang L - Biomed Res Int (2015)

Bottom Line: The result showed that CNVs were detected in 17 (37.0%) fetuses.Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46, 6.5%) fetuses were defined as being of uncertain clinical significance.CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies.

View Article: PubMed Central - PubMed

Affiliation: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

ABSTRACT
The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype. A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or single-nucleotide polymorphism (SNP) array. The result showed that CNVs were detected in 17 (37.0%) fetuses. Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46, 6.5%) fetuses were defined as being of uncertain clinical significance. Fetuses with CNS malformations plus other ultrasound anomalies had a higher rate of pathogenic CNVs than those with isolated CNS anomalies (13.6% versus 8.3%), but there was no significant difference (Fisher's exact test, P > 0.05). Pathogenic CNVs were detected most frequently in fetuses with Dandy-Walker syndrome (2/6, 33.3%) when compared with other types of neural malformations, and holoprosencephaly (2/7, 28.6%) ranked the second. CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies. It should be considered as part of prenatal diagnosis in fetuses with CNS malformations and normal karyotypes.

No MeSH data available.


Related in: MedlinePlus

Microarray testing results. The CNVs of Cases 2, 4, 5, and 8 were detected by SNP array. (a)–(d) showed the SNP results of Cases 2, 4, 5, and 8, respectively. (a) A 3.15-Mb duplication in chromosome 22q11.21 included 43 OMIM genes in Case 2. (b) A 0.17-Mb deletion in chromosome Xq13.3 in Case 4. (c) A 0.34-Mb deletion within chromosome 2p21 in Case 5. (d) A 1.15-Mb deletion of chromosome 21q21.1 in Case 8. The chromosome numbers and cytobands are shown and labeled on the right side. The view on the left side shows the detected segments, regions, and reference annotations in detail. Chromosomal duplication segments are denoted by upward triangle (blue) whereas deletion segments are denoted by downward triangle (red).
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fig2: Microarray testing results. The CNVs of Cases 2, 4, 5, and 8 were detected by SNP array. (a)–(d) showed the SNP results of Cases 2, 4, 5, and 8, respectively. (a) A 3.15-Mb duplication in chromosome 22q11.21 included 43 OMIM genes in Case 2. (b) A 0.17-Mb deletion in chromosome Xq13.3 in Case 4. (c) A 0.34-Mb deletion within chromosome 2p21 in Case 5. (d) A 1.15-Mb deletion of chromosome 21q21.1 in Case 8. The chromosome numbers and cytobands are shown and labeled on the right side. The view on the left side shows the detected segments, regions, and reference annotations in detail. Chromosomal duplication segments are denoted by upward triangle (blue) whereas deletion segments are denoted by downward triangle (red).

Mentions: Information for 5 fetuses with pathogenic CNVs and 3 cases with CNVs of uncertain clinical significance was shown in Figures 1 and 2, and Table 2.


Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis.

Sun L, Wu Q, Jiang SW, Yan Y, Wang X, Zhang J, Liu Y, Yao L, Ma Y, Wang L - Biomed Res Int (2015)

Microarray testing results. The CNVs of Cases 2, 4, 5, and 8 were detected by SNP array. (a)–(d) showed the SNP results of Cases 2, 4, 5, and 8, respectively. (a) A 3.15-Mb duplication in chromosome 22q11.21 included 43 OMIM genes in Case 2. (b) A 0.17-Mb deletion in chromosome Xq13.3 in Case 4. (c) A 0.34-Mb deletion within chromosome 2p21 in Case 5. (d) A 1.15-Mb deletion of chromosome 21q21.1 in Case 8. The chromosome numbers and cytobands are shown and labeled on the right side. The view on the left side shows the detected segments, regions, and reference annotations in detail. Chromosomal duplication segments are denoted by upward triangle (blue) whereas deletion segments are denoted by downward triangle (red).
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4443641&req=5

fig2: Microarray testing results. The CNVs of Cases 2, 4, 5, and 8 were detected by SNP array. (a)–(d) showed the SNP results of Cases 2, 4, 5, and 8, respectively. (a) A 3.15-Mb duplication in chromosome 22q11.21 included 43 OMIM genes in Case 2. (b) A 0.17-Mb deletion in chromosome Xq13.3 in Case 4. (c) A 0.34-Mb deletion within chromosome 2p21 in Case 5. (d) A 1.15-Mb deletion of chromosome 21q21.1 in Case 8. The chromosome numbers and cytobands are shown and labeled on the right side. The view on the left side shows the detected segments, regions, and reference annotations in detail. Chromosomal duplication segments are denoted by upward triangle (blue) whereas deletion segments are denoted by downward triangle (red).
Mentions: Information for 5 fetuses with pathogenic CNVs and 3 cases with CNVs of uncertain clinical significance was shown in Figures 1 and 2, and Table 2.

Bottom Line: The result showed that CNVs were detected in 17 (37.0%) fetuses.Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46, 6.5%) fetuses were defined as being of uncertain clinical significance.CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies.

View Article: PubMed Central - PubMed

Affiliation: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

ABSTRACT
The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype. A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or single-nucleotide polymorphism (SNP) array. The result showed that CNVs were detected in 17 (37.0%) fetuses. Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46, 6.5%) fetuses were defined as being of uncertain clinical significance. Fetuses with CNS malformations plus other ultrasound anomalies had a higher rate of pathogenic CNVs than those with isolated CNS anomalies (13.6% versus 8.3%), but there was no significant difference (Fisher's exact test, P > 0.05). Pathogenic CNVs were detected most frequently in fetuses with Dandy-Walker syndrome (2/6, 33.3%) when compared with other types of neural malformations, and holoprosencephaly (2/7, 28.6%) ranked the second. CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies. It should be considered as part of prenatal diagnosis in fetuses with CNS malformations and normal karyotypes.

No MeSH data available.


Related in: MedlinePlus