Molina-Giraldo S, Alfonso-Ospina L, Parra-Meza C, Lancheros-García EA, Rojas-Arias JL, Acuña-Osorio E

Language: Spanish
References: 23
Page: 680-689
PDF size: 339.74 Kb.

ABSTRACT

Objective: To establish the prevalence of congenital malformations diagnosed in Maternal-Fetal Medicine Unit of Hospital de San José, Bogotá - Colombia and comparing them to national and international reports.
Materials and methods: Retrospective, descriptive observational where the quantification of all malformed fetuses diagnosed in Maternal-Fetal Medicine Unit from June 2010 to June 2013 was performed.
Results: 236 malformed fetuses, a total of 11,914 births, for a prevalence of 1.98 % were included at a mean gestational age at diagnosis of 26.7 weeks (SD 7.1 weeks). The most common congenital malformations were at the level of Central Nervous System (CNS) 88 (37 %) in total and within them, the most prevalent was ventriculomegaly 16 (7 %). Of the 236 malformed fetuses, 165 fetuses (70.2 %) had only one affected system 29 (12.3 %) 2 compromised systems and 42 (17.5 %) over 3 affected systems. Karyotyping was offered to all antenatal patients, however, accepted only 63 (26.7 %), and 39 (62 %) with normal results and the other aneuploidies were found, having Trisomy 21 as the most common. It was possible to establish a concordance of 86% between the antenatal and postnatal diagnosis. The perinatal mortality found in this study was 34.7 %, mainly in fetuses with congenital diaphragmatic hernia 16 cases (88.8 %), fetal non-immune hydrops 8 cases (80%), cardiovascular abnormalities 31 cases (46.2 %) genitourinary and 13 cases (24 %), and fetuses with CNS malformations such as sequence acranea -anencefalia, holoprosencephaly and encephalocele mortality occurred in 100%.
Conclusion: In this study the prevalence of congenital anomalies was found comparable to that reported at local and global levels, which were diagnosed and adequately characterized by more than two-thirds by obstetrical ultrasound performed by trained personnel in prenatal diagnosis. Perinatal morbidity and mortality remain high thoracic, cardiovascular, renal and non-immune hydrops congenital anomalies.

REFERENCES

1. Goldberg JD. Routine screening for fetal anomalies: expectations. Obstet Gynecol Clin North Am. 2004;31(1):35-50.

2. Gomez-Ruiz J. Detección de anomalías congénitas en 12.760 nacimientos de tres hospitales en la ciudad de bogotá, Colombia, 2004-2005, mediante ecografía prenatal. Revista Colombiana de Obstetricia y Ginecología 2007;58:194-201.

3. Munim S, Nadeem S, Khuwaja NA. The accuracy of ultrasound in the diagnosis of congenital abnormalities. J Pak Med Assoc. 2006;56(1):16-8.

4. Bernfield MR. Progress in birth defects research. Calif Med. 1970;112(2):26-42.

5. Zarante AM, Gracia G ZI. Evaluación de factores de riesgo asociados con malformaciones congénitas en el programa de vigilancia epidemiológica de malformaciones congénitas (ECLAMC) en Bogotá entre 2001 y 2010. Universitas Médica. 2012;53(11):11-25.

6. Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol. 1999;181(2):446- 54.

7. Stewart TL. Screening for aneuploidy: the genetic sonogram. Obstet Gynecol Clin North Am. 2004;31(1):21-33.

8. Carvalho MH, Brizot ML, Lopes LM, Chiba CH, Miyadahira S, Zugaib M. Detection of fetal structural abnormalities at the 11-14 week ultrasound scan. Prenat Diagn. 2002;22(1):1-4.

9. Romosan G, Henriksson E, Rylander A, Valentin L. Diagnostic performance of routine ultrasound screening for fetal abnormalities in an unselected Swedish population in 2000-2005. Ultrasound Obstet Gynecol. 2009;34(5):526- 33.

10. Whitworth M, Bricker L, Neilson JP, Dowswell T. Ultrasound for fetal assessment in early pregnancy. Cochrane Database Syst Rev. 2010(4):CD007058.

11. Salomon LJ, Alfirevic Z, Berghella V, Bilardo C, Hernandez- Andrade E, Johnsen SL, et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2011;37(1):116-26.

12. Carrera JM, Torrents M, Mortera C, Cusí V, Muñoz A. Routine prenatal ultrasound screening for fetal abnormalities: 22 years’ experience. Ultrasound Obstet Gynecol. 1995;5(3):174-9.

13. Ewigman BG, Crane JP, Frigoletto FD, LeFevre ML, Bain RP, McNellis D. Effect of prenatal ultrasound screening on perinatal outcome. RADIUS Study Group. N Engl J Med. 1993;329(12):821-7.

14. Boyd PA, Chamberlain P, Hicks NR. 6-year experience of prenatal diagnosis in an unselected population in Oxford, UK. Lancet 1998;352(9140):1577-81.

15. Salomon LJ, Alfirevic Z, Bilardo CM, Chalouhi GE, Ghi T, Kagan KO, et al. ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2013;41(1):102-13.

16. International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, Chaoui R, Copel JA, DeVore GR, et al. ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol. 2013;41(3):348-59.

17. AIUM practice guideline for the performance of fetal echocardiography. J Ultrasound Med. 2013;32(6):1067-82.

18. AIUM practice guideline for the performance of obstetric ultrasound examinations. J Ultrasound Med. 2013;32(6):1083-101.

19. Unidas N. objetivos deldesarrollo del milenio. naciones unidas: nacones unidas, 2013 Contract No.: 2.000.

20. Roberts T, Henderson J, Mugford M, Bricker L, Neilson J, Garcia J. Antenatal ultrasound screening for fetal abnormalities: a systematic review of studies of cost and cost effectiveness. BJOG. 2002;109(1):44-56.

21. Control CfD, Prevention. Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects--United States, 2003. MMWR Morb Mortal Wkly Rep. 2007;56(2):25-9.

22. Pachajoa H, Ariza Y, Isaza C, Méndez F. [Major birth defects in a third-level hospital in Cali, Colombia, 2004-2008]. Rev Salud Publica (Bogota). 2011;13(1):152-62.

23. Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20(5):521-6.