Grether-González P, Cámara-Polanco V, Ulloa-Avilés V, Salas-Labadía C, Almanza-Márquez R, Kogan-Frenk S, Kuttothara A

Language: Spanish
References: 15
Page: 493-503
PDF size: 416.49 Kb.

ABSTRACT

Background: Genetic amniocentesis is performed in México 25 years ago but only few works have been published.
Objetive: To analyze clinical and cytogenetic findings in consecutive patients submitted to genetic amniocentesis.
Material and method: An analysis was made of the clinical features, amniocentesis results and pregnancy outcome in 1500 consecutive cases of genetic amniocentesis.
Results: Sixty-eight fetuses with chromosomopathy (4.5%) were detected and two, with an inborn error of metabolism. The most frequent abnormalities were trisomy 21 (32 cases), trisomy 18 (10 cases), trisomy 13 (6 cases), 45,X (6 cases), 47,XXY (4 cases). Pregnancy outcome is known in 474 patients (32%). There were five fetal losses (1%). Of the 68 cases with chromosomopathy, the outcome is known in 45, of which, 29 (64%) decided to have an abortion while 16 (35%) continued the pregnancy, six had a spontaneous abortion or perinatal death and ten had an alive new born. Among fetuses with normal or balanced karyotype and normal ultrasound, 11 out of 419 (2.6%) had congenital anomalies. Two of them had a condition known to be related with epigenetic regulation, (Russell Silver and Angelman syndrome).
Conclusions: Amniocentesis is a reliable and low risk method. Cytogenetic findings in this series are similar to those reported in the literature. Most patients with fetal disease decided to have an abortion. The finding of two patients with a condition related with abnormal epigenetic regulation suggests that the magnitude of this risk remains to be defined.

REFERENCES

1. Cerrillo HM, Yerena MC, González PME, Godoy H, et al. Amniocentesis genética en población de alto riesgo. Experiencia en 3,081 casos. Ginecol Obstet Mex 2009;77(4):173-182.

2. Grether P, Zavaleta MJ, De la Luna E, Sánchez V, et al. Diagnóstico prenatal en 350 amniocentesis. Ginecol Obstet Mex 1991;59:317-322.

3. The Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group. Randomized trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 1998;351:242-247.

4. Giardino D, Corti C, Ballarati L, Colombo D, et al. De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn 2009;29:257-265.

5. Feldman R, Martinez JD. Growth suppression by ursodeoxycholic acid involves caveolin-1 enhanced degradation of EGFR. Biochim Biophys Acta 2009;1793(8):1387-1394.

6. Giorlandino C, Cignini P, Cini M, Brizzi C, et al. Antibiotic prophylaxis before second-trimester genetic amniocentesis (APGA): a single-centre open randomised controlled trial. Prenat Diagn 2009;29(6):606-612.

7. Invasive prenatal testing for aneuploidy. American College of Obstetricians and Gynecologists ACOG Practice Bulletin No. 88. Obstet Gynecol 2007;110(6):1459-1467.

8. Athanasiadis AP, Pantazis K, Goulis DG, Chatzigeorgiou K, et al. Comparison between 20G and 22G needle for second trimester amniocentesis in terms of technical aspects and short-term complications. Prenat Diagn 2009;29(8):761-765.

9. Kagami M, Sekita Y, Nishimura G, Irie M, et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet 2008;40(2):237-242.

10. Fickelscher I, Liehr T, Watts K, Bryant V, et al. The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement butdisplays some breakpoint heterogeneity. Am J Hum Genet 2007;81(4):847-856.

11. Norma Oficial Mexicana NOM-007-SSA2-1993, Atención de la mujer durante el embarazo, parto y puerperio y del recién nacido.

12. Cirigliano V, Voglino G, Ordoñez E, Marongiu A, et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience. Prenat Diagn 2009;29(1):40-49.

13. Evans MI, Wapner RJ. Invasive Prenatal Diagnostic Procedures 2005. Semin Perinatol 2005;29:215-218.

14. Lindenbaum RH, Hultén M, McDermott A, Seabright M. The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J Med Genet 1985;22(1):24-28.

15. Green NS, Damus K, Simpson JL, Iams J, et al. Research agenda for preterm birth, March Of Dimes Scientific Advisory Committee On Prematurity: recommendations from the March of Dimes. Am J Obstet Gynecol 2005;193(3 Pt 1):626-635.