THE APPLICATION OF ARRAY COMPARATIVE GENOMIC HYBRIDIZATION (ACGH) TECHNOLOGY FOR PRENATAL DIAGNOSIS
https://doi.org/10.1234/XXXX-XXXX-2015-5-18-22
Abstract
The article presents our experience with the method of array comparative genomic hybridization (aCGH) during examining fetuses with increasing of the nuchal translucency and normal karyotype in the I trimester of pregnancy. On the basis of recommended algorithms pathogenic and likely pathogenic copy number variation (CNV) were identified in 8.3% cases. One CNV was presented as a rare 13q deletion syndrome. Pregnancy with this syndrome was terminated due to association with severe malformations of the fetus. CGH method can be applied an as essential complement to standard cytogenetic methods or its alternative in some cases.
About the Authors
N. A. Karetnikova
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology», Ministry of Health
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
A. N. Ekimov
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology», Ministry of Health
Russian Federation
Russian Federation
E. E. Baranova
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology», Ministry of Health; Russian Medical Academy of Postgraduate Education, Ministry of Health
Russian Federation
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
Barricadnaya street, 2/1, Moscow, 125993
V. A. Bakharev
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology», Ministry of Health
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
D. Ju. Trofimov
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology», Ministry of Health
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
A. I. Gus
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology», Ministry of Health
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
Russian Federation
Oparin street, 4, Moscow, Russian Federation, 117997
References
1. Munne S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization // Curr. Genomics. — 2013. — 13(6). — P. 463—470.
2. Leung T.Y. et al. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype // Ultrasound Obstet. Gynecol. — 2011. — 38(3). — P. 314—319.
3. Lichtenbelt K.D., Knoers N.V., Schuring-Blom G.H. From karyotyping to array-CGH in prenatal diagnosis // Cytogenet. Genome Res. — 2011. — 135(3—4). — P. 241—250.
4. Huang J. et al. Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH? // Ultrasound Obstet. Gynecol. — 2014. — 43(6). — P. 620—624.
5. Moorhead P.S. et al. Chromosome preparations of leukocytes cultured from human peripheral blood // Exp. Cell Re. — 1960. — 20. — P. 613—616.
6. Kearney H.M. et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants // Genet. Med. — 2011. — 13(7). — P. 680—685.
7. Otonkoski T. et al. Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release // Diabetes. — 2003. — 52(1). — P. 199—204.
8. Merezhinskaya N. et al. Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport // Muscle Nerve. — 2000. — 23(1). — P. 90—97.
9. Hulten M.A., Dhanjal S., Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR // Reproduction. — 2003. — 126(3). — P. 279—297.
10. Cheung S.W. et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis // Genet. Me. — 2005. — 7(6). — P. 422—432.
11. Shaffer L.G., Bejjani B.A. A cytogeneticist’s perspective on genomic microarrays // Hum. Reprod. Update. — 2004. — 10(3). — P. 221—226.
12. Frol’kis A.V. [Functional dumping syndrome] // Sov Med. — 1990(9). — P. 83—88.
13. Chen C.P. et al., Partial monosomy 13q (13q21.32—>qter) and partial trisomy 8p (8p1—>pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization // Taiwan J. Obstet. Gynecol. — 2011. — 50(2). — P. 205—211.
14. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis // Obstet. Gynecol. — 2013. — 122(6). — P. 1374—1377.
15. Zilina O. et al. Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience // Mol. Genet. Genomic Med. — 2014. — 2(2). — P. 166—175.
16. Resta N., Memo L. Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? // J. Matern. Fetal Neonatal Med. — 2012. — 25 Suppl. 4. — P. 124—126.
Review
For citations:
Karetnikova N.A., Ekimov A.N., Baranova E.E., Bakharev V.A., Trofimov D.J., Gus A.I. THE APPLICATION OF ARRAY COMPARATIVE GENOMIC HYBRIDIZATION (ACGH) TECHNOLOGY FOR PRENATAL DIAGNOSIS. Medical Genetics. 2015;14(5):18-22. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-5-18-22
Views:
870
Email this article 