Valor predictivo positivo del diagnóstico prenatal invasivo para alteraciones cromosómicas

Universidad Nacional de Colombia. Facultad de Medicina. Revista

Fandiño-Losada, Andrés¹  Ramírez-Cheyne, Julián¹  Isaza-de Lourido, Carolina¹  Saldarriaga, Wilmar¹  Lucumí-Villegas, Beatriz¹ 

[1] Universidad del Valle, Cali, Colombia

关键词: Prenatal Diagnosis;    Chromosome Disorders;    Diagnostic Techniques and Procedures;    Karyotype;    Prenatal Care;    Fetus (MeSH).;   

DOI  :  10.15446/revfacmed.v66n1.62098

学科分类：医学（综合）

来源: Universidad Nacional de Colombia * Facultad de Medicina

【 摘 要 】

Introduction: Invasive prenatal diagnosis (PD) for chromosomal abnormalities (CA) is performed following non-invasive tests indications and is based on the probability of finding an altered karyotype.Objectives: To identify the indications for invasive procedures in order to perform a DP for CA, estimate the positive predictive value (PPV) of each indication and estimate the odds ratio (OR) of finding an AC.Materials and methods: Cross-sectional study to establish the indications of invasive procedures to perform karyotypes in the records of a genetic diagnostic center in Cali, Colombia, in the period 2013-2015.Results: Out of 738 records of karyotypes analyzed, 103 (14.0%) had presented CA. The most frequent indications were unique anatomical alteration observed in second-trimester ultrasound (21.4%) and maternal age (18.8%). The indications with the highest PPV were altered nuchal sonolysis plus another ultrasound marker (80.0%) and history of 2 or more abortions (30.8%). The highest ORs of an altered karyotype were also nuchal sonolysis plus another ultrasound marker (OR = 1381.6) and history of 2 or more abortions (OR=153.5).Conclusions: Ultrasound was the main tool to indicate invasive PD procedures. Integrated biochemical markers were a rare indication.

【 授权许可】

CC BY