Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
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Published:2020-07-08
Issue:1
Volume:13
Page:
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ISSN:1755-8166
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Container-title:Molecular Cytogenetics
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language:en
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Short-container-title:Mol Cytogenet
Author:
Li Suping,Jin Yuxia,Yang Jing,Yang Li,Tang Ping,Zhou Chiyan,Wu Liping,Dong Jinhua,Chen Jie,Shen Huaxiang
Abstract
Abstract
Background
22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese population.
Results
We recruited 411 pregnant women who showed either abnormal prenatal ultrasound findings or positive prenatal BoBs™ results or who had given birth to a child with chromosomal abnormalities. SNP-array analysis and interphase FISH analysis identified five fetuses with 22q11.2 copy number variants (CNVs), three of which were 22q11.2 deletion syndrome (22q11.2DS) (3/411) and two of which were 22q11.2 duplication syndrome (22q11.2DupS). In all 5 cases of diagnosed 22q11.2 abnormalities, inheritance could not be identified because the parents did not undergo further testing.
Conclusion
Our case reports provide a detection rate of 22q11.2 CNVs for fetuses with prenatal diagnostic indications, and early diagnosis of these two syndromes was essential for prenatal intervention in these cases. SNP-array technology is an effective tool in the prenatal diagnosis of 22q11.2 CNVs. The prenatal diagnosis of these two syndromes is helpful for early intervention, which is of great clinical significance.
Funder
Zhejiang Province Public Welfare Technology Application Research Project Health Development Planning Commission of Zhejiang Province Technology Bureau of Jiaxing, Zhejiang Province Research Fund for Academician Lin He New Medicine
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Reference19 articles.
1. Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT. 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism. 2016;7:27. 2. McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071. 3. Vingerhoets C, van Oudenaren MJF, Bloemen OJN, Boot E, van Duin EDA, Evers LJM, Fiksinski AM, Breetvelt EJ, Palmer LD, Vergaelen E, et al. Low prevalence of substance use in people with 22q11.2 deletion syndrome[J]. Br J Psychiatry. 2019;215(5):661–7. 4. Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res. 2007;17(4):482–91. 5. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, et al. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008;10(4):267–77.
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