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Ginecología y Obstetricia de México

Federación Mexicana de Ginecología y Obstetricia, A.C.
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2009, Number 04

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Ginecol Obstet Mex 2009; 77 (04)

Genetic amniocentesis in high-risk populations. Experience in 3.081 cases

Cerrillo HM, Yerena VMC, González PME, Godoy H, Galicia J, Gutiérrez NA
Full text How to cite this article

Language: Spanish
References: 16
Page: 173-182
PDF size: 434.61 Kb.


Key words:

amniocentesis, prenatal diagnosis, karyotype, chromosomal alteration.

ABSTRACT

Background: Prenatal diagnosis is an advantage for couples with certain lifestyles, ensures self-determination of an affected child or procreate a healthy. However, Mexico has been performed only in private hospitals and the National Medical Center November 20 ISSSTE and the National Institute of Perinatology.
Objective: To evaluate the frequency of chromosomal abnormalities in 3081 amniocentesis performed in patients at high risk of having an affected child.
Materials and methods: we analyzed the results of amniocentesis performed between September 1987 and August 2006. Data analysis was done using frequency tables and chi-square, Yates corrected and Mantel-Haenzel.
Results: Most studies were requested by maternal age, maternal distress and positive biochemical marker. 9% (≤ 14 weeks) were early amniocentesis and 91% regular (≥ 15 weeks). The samples were processed in triplicate in an open cultivation system. The fetal karyotype was obtained in 99.9% of the studies, 10.5 ± 1.4 days. Chromosomal abnormalities were detected in 128 cases (4.2%), 103 were unbalanced and 25 balanced. The most frequent abnormalities were: Down syndrome 39%, balanced translocations 13.2%, 12.5% of Edwards syndrome, alterations in sex chromosomes and 11.5% unbalanced structural aberrations 7%.
Conclusions: Our data could be used to provide genetic counseling based on the experience reported here.


REFERENCES

  1. Hsu LYF. Prenatal diagnosis of chromosomal abnormalitis through amniocentesis. In: Genetic Disorders and the fetus. Diagnosis, Prevention and Treatment. 3th ed. Baltimore: The John Hopkins University Press, 1992;pp:155-210.

  2. American College of Obstetricians and Gynecologists Committee on Practice Bulletins-Obstetrics: ACOG Practice Bulletin. Clinical management guidelines for Obstetrician- Gynecogists. Prenatal diagnosis of fetal chromosomal abnormalities. Obstet & Gynecol 2001;97(5 pt 1):Suppl 1-12.

  3. Cornel MC. Variation in prenatal cytogenetic diagnosis: policies in 13 european countries, 1989-1991. EUROCAT Working Group. European registration of congenital anomalies. Prenatal Diagn 1994;14(5):337-44.

  4. Cerrillo M, Violante M, Yerena C, García P y col. Diagnóstico citogenético prenatal. Inicio de una nueva etapa dentro de la citogenética en México. Ginec Obstet Mex 1986;54:107-11.

  5. Grether P, Zavaleta MJ, De la Luna E, Sánchez V, y col. Diagnóstico prenatal en 350 amniocentesis. Ginecol Obstet Mex 1991;59:317-22.

  6. ISCN 2005. An internacional System for Human Cytogene-Cytogenetic Nomenclatura. Shaffer LG, Tomnerup N Basel: Karger, 2005.

  7. Salamanca F. Citogenética humana. 1ª ed. México Editorial Médica: Panamericana 1993;p:330.

  8. Summers AM, Langlosis S, Wyatt P, Wilson RD. Society of Obstetrician and Gynaecologist of Canada. Prenatal screening for fetal aneuploidy. J Obstet Gynaecol Can 2007;29(2):146-79.

  9. Benn PA, Hsu LYF, Carlson A, Tonnenboom HL. The centralized prenatal genetics program of New York City III: The first 7,000 cases. Am J Med Genet 1985;20(2):369-84.

  10. Tseng JJ, Chou MM, Lo FC, Lai HY, et al. Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995-2004. Taiwan J Obstet Gynecol. 2006 Mar; 45(1):39-41

  11. Karaoguz MY, Bal F, Yakut T, Ercelen NO, et al. Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study. Genet Couns 2006;17(2):219-30.

  12. Eddleman KA, Malone FD, Sullivan L, Dukes K, et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 2006;108(5):1067-72.

  13. Caron L, Tihy F, Dallaire L. Frequencies of chromosomal abnormalities at amniocentesis: over 20 years of cytogenetic analyses in one laboratory. Am J Med Genet 1999; 82(2):149-54.

  14. Kagan KO, Chitty LS, Cicero S, Eleftheriades M, Nikolaides KL. Ultrasound finding before amniocentesis in selecting the method of analyzing the sample. Prenat Diagn 2007; 27(1):34-9.

  15. Johnson A, Wapner R. Mosaicism: implications for postnatal autcome. Curr Opini Obstet Gynecol 1997;10:126-31.

  16. Warburton D. Outome of cases of de novo structural rearrangements diagnosed at amniocentesis. Prenat Diagn 1984;4(1):69-80.




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Ginecol Obstet Mex. 2009;77