#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Advanced maternal age as a sole indication for amniocentesis – analysis of 418 fetal karyotypes


Authors: A. Šípek jr.;  R. Mihalová;  A. Panczak;  M. Janashia;  L. Celbová;  M. Kohoutová
Authors place of work: Ústav biologie a lékařské genetiky 1. lékařské fakulty Univerzity Karlovy a Všeobecné fakultní nemocnice, Praha, přednostka doc. MUDr. M. Kohoutová, CSc.
Published in the journal: Ceska Gynekol 2011; 76(3): 230-234

Summary

Aim of study:
Analysis of incidence of chromosomal abnormalities and variants in foetuses karyotyped because of the advanced maternal age.

Type of study:
A retrospective epidemiological study of results of cytogenetic examinations followed amniocentesis in 418 foetuses.

Material and methods:
In our study we have used data from archives of the Cytogenetic laboratory of the Institute of Biology and Medical Genetics of the First Faculty of Medicine, Charles University and General Teaching Hospital in Prague. We have included only the cases where the amniocentesis was performed solely because of advanced maternal age. All cases were divided in specific groups and analyzed.

Results:
There were totally 1107 karyotype examinations following the amniocentesis between 2007 and 2009 in our laboratory. Among these cases, 418 amniocenteses (37.8%) were performed only because of the advanced maternal age. The mean maternal age in this group was 38.02 Ī 2.4 years. In the whole group of 418 foetuses, 256 of them (61.24%) had normal karyotype, without chromosomal variants or pathologies. In 9 cases (2.15%) we identified pathologic karyotype. Down syndrome was identified in 3 cases (0.72%), what means one case of Down syndrome per 139 amniocenteses performed because of the advanced maternal age. Among other pathologies there were three (0.72%) gonosomal aneuploidies. Variants of acrocentric chromosomes were identified in 121 (28.95%) foetuses, variants of heterochromatine regions in 53 (12.68%) foetuses and other karyotype variants in one case (0.24%). In some cases, we have identified coincidence of more than one chromosomal variant and/or pathology.

Conclusion:
Our study presents the overview of chromosomal pathologies and variants that can be identified in fetal karyotype examinations because of the advanced maternal age. The efficiency of Down syndrome identification did not differ from the overall efficiency of amniocentesis in the Czech Republic. Advanced maternal age is still considered as an important part of the indication criteria for invasive prenatal diagnosis.

Key words:
karyotype, amniocentesis, prenatal diagnosis, chromosomal aberrations, Down syndrome, advanced maternal age.


Zdroje

1. Balíček, P. Pericentrické inverze lidských chromozomů a jejich rizika. Čas lék čes, 2001, 140, 2, s. 38-42.

2. Bell, JA., Pearn, JH., Wilson, BH., et al. Prenatal cytogenetic diagnosis – a current audit. A review of 2000 cases of prenatal cytogenetic diagnoses after amniocentesis, and comparisons with early experience. Med J Aust, 1987, 146, 1, p. 12-15.

3. Bornstein, E., Lenchner, E. Donnenfeld, A., et al. Advanced maternal age as a sole indication for genetic amniocentesis; risk-benefit analysis based on a large database reflecting the current common practice. J Perinat Med, 2009, 37, 2, p. 99-102.

4. Brothman, AR., Schnedier, NR., Saikevych, I., et al. Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years. Arch Pathol Lab Med, 2006, 130, 7, p. 947-949.

5. Calda, P., Šípek, A., Gregor, V. Gradual implementation of first trimester screening in a population with a prior screening strategy: population based cohort study. Acta Obstet Gynecol Scand, 2010, 89, 8, p. 1029-1033.

6. Carothers, AD., Castilla, EE., Dutra, MG., et al. Search for ethnic, geographic, and other factors in the epidemiology of Down syndrome in South America: analysis of data from the ECLAMC project, 1967-1997. Am J Med Genet, 2001, 103, 2, p. 149-156.

7. Cocchi, G., Gualdi, S., Bower, C., et al. International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies. Birth Defects Res Part A Clin Mol Teratol, 2010, 88, 6, p. 474-479.

8. Drugan, A. Advanced maternal age and prenatal diagnosis: it’s time for individual assessment of genetic risks. Isr Med Assoc J, 2005, 7, 2, p. 99-102.

9. E.C.A. Permanent Working Group for Cytogenetics and Society, Cytogenetic Guidelines and Quality Assurance: A common European framework for quality assessment for constitutional and acquired cytogenetic investigations., 2007, 33 s., dostupné z WWW: [http://www.biologia.uniba.it/eca/ NEWSLETTER/NS-17/Guidelines.pdf]

10. EUROCAT, EUROCAT Special Report: Prenatal Screening Policies in Europe 2010”, EUROCAT Central Registry, University of Ulster, 2010, 34 s., dostupné z WWW: [http://www.eurocat-network.eu/content/Special-Report-Prenatal-Screening-Policies.pdf]

11. Gardner, RJ.McK., Sutherland, GR. Chromosome abnor­malities and genetic counseling, 3rd ed. Oxford: Oxford University Press, 2004, 577 p.

12. Gregor, V., Šípek, A. Efektivita prenatální diagnostiky v České republice v období 1994–2008. Actual Gyn, 2009, 1, 1, s. 25-29.

13. Gregor, V., Šípek, A., Calda, P. Úspěšnost prenatální diagnostiky vrozených vad v ČR. In Calda, P., Břešťák, M., Fischerová, D. Ultrazvuková diagnostika v těhotenství a gynekologii. 2. vyd. Praha: Apofema, 2010, s. 298-307.

14. Han, SH., An, JW., Jeong, GY., et al. Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. Korean J Lab Med, 2008, 28, 5, p. 378-385.

15. Hecht, CA., Hook, EB. Rates of Down syndrome at livebirth by one-year maternal age intervals in studies with apparent close to complete ascertainment in populations of European origin: a proposed revised rate schedule for use in genetic and prenatal screening. Am J Med Genet, 1996, 62, 4, p. 376-385.

16. Leung, WC., Lau, ET., Lau, WL., et al. Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide? Hong Kong Med J, 2008, 14, 1, p. 6-13.

17. Sahin, FI., Yilmaz, Z. Yuregir, OO., et al. Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet, 2008, 25, 5, p. 191-195.

18. Serra, A., Brahe, C., Millington-Ward, A., et al. Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. Am J Med Genet, 1990, 7, Suppl, p. 162-168.

19. Shaffer, LG., Slovak, ML., Campbell, LJ., ISCN 2009: An international system for human cytogenetic nomenclature (2009). Basel, Karger, 2009, 138 p.

20. Starke, H., Seidel, J., Henn, W., et al. Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet, 2002, 10, 12, p. 790-800.

21. Šípek, A., Gregor, V., Horáček, J., et al. Down syndrome in the Czech Republic during 1961 – 1997: incidences, prenatal diagnosis and maternal – age – specific rates. J Obstet Gynaecol, 2001, 21, 3, p. 266-269.

Štítky
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine

Článok vyšiel v časopise

Czech Gynaecology

Číslo 3

2011 Číslo 3
Najčítanejšie tento týždeň
Najčítanejšie v tomto čísle
Prihlásenie
Zabudnuté heslo

Zadajte e-mailovú adresu, s ktorou ste vytvárali účet. Budú Vám na ňu zasielané informácie k nastaveniu nového hesla.

Prihlásenie

Nemáte účet?  Registrujte sa

#ADS_BOTTOM_SCRIPTS#