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.

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