Prevalence of chromosomal abnormalities in newborns of the Edgardo Rebagliati National Hospital

Authors

  • Milagros Dueñas-Roque
  • Megui Mansilla-Gallegos
  • Mariela Flores-Fachín
  • Merita Collazos-Alarcón
  • Luis Velarde
  • Edwin Quispe
  • Ana Vicente-Cruz
  • Doris Bellido
  • Gladys Puch-Bezada
  • Rosario Gamarra-Díaz
  • Guido Mayorga-Ricalde
  • Ruth Yábar-Yábar
  • Ana Prötzel-Pinedo

DOI:

https://doi.org/10.61651/rped.2018v70n1p10-18

Keywords:

Chromosome Aberrations, Congenital Abnormalities, Prevalencia

Abstract

Objective: To determine the prevalence of chromosomal abnormalities and mortality in newborns of Edgardo Rebagliati Martins Hospital in the period January 2011 to December 2013.

Methods: Retrospective descriptive study. By reviewing medical records of newborns who had any abnormal chromosomes according logbook cytogenetics Laboratory. We analyzed, the prevalence, maternal age, number of pregnancy, gestational age, gender, birth weight, discharge status (alive or dead) and associated malformations.

Results: In the study period, there were 25,086 live births. Of these, 138 live newborns had a chromosomal aberration, with a prevalence of 0.6 %. There were 51 live newborns referred from other hospitals handling more complex so that, our sample consisted of 189 neonates of whom 51.9% were female. The most common chromosomal aberration was Down syndrome with 74.6% (n=141), followed by Edwards syndrome with 13.2 % (n=25) and Patau syndrome with 5.8 % (n=11), there was one case of Turner syndrome. The 5.28% had unbalanced structural abnormalities. Median survival was 17 days (95 % confidence interval [CI]: 12.6 to 21.3) for infants with trisomy 18 and 4 days (95 % [CI]: 2.5 to 5.4) for trisomy 13. Congenital heart disease was the most common associated malformation (67.2%).

Conclusions: The prevalence of chromosomal abnormalities found, emphasizes the need for karyotyping in malformed newborns in order to give proper advice to the family.

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Published

2018-12-31

How to Cite

1.
Dueñas-Roque M, Mansilla-Gallegos M, Flores-Fachín M, Collazos-Alarcón M, Velarde L, Quispe E, et al. Prevalence of chromosomal abnormalities in newborns of the Edgardo Rebagliati National Hospital. Rev Peru Pediatr [Internet]. 2018 Dec. 31 [cited 2025 May 18];70(1):10-8. Available from: https://pediatria.pe/index.php/pedperu/article/view/287

Issue

Vol. 70 Num. 1 (2018)

Section

ORIGINAL ARTICLE

Categories

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