Introduction
Chromosomal microarray analysis is recommended as the first‐tier test for the evaluation of fetuses with structural anomalies. This study aims to investigate the incremental diagnostic yield of chromosomal microarray over conventional karyotyping analysis in fetuses with anomalies restricted to one anatomic system and those with nonspecific anomalies detected by sonography.
Material and methods
This is a retrospective cohort analysis of 749 fetuses undergoing prenatal diagnosis for abnormal ultrasound findings isolated to one anatomic system and normal karyotype, utilizing chromosomal microarray. Overall, 495 (66%) fetuses had anomalies confined to one anatomic system and 254 (34%) had other nonspecific anomalies including increased nuchal translucency (≥3.5 mm), cystic hygroma, intrauterine growth restriction and hydrops fetalis.
Results
Fetuses with ultrasound anomalies restricted to one anatomic system had a 3.0% risk of carrying a pathogenic copy number variant; the risk varied dependent on the anatomic system affected. Fetuses with confined anomalies of the cardiac system had the highest diagnostic yield at 4.6%, but there were none in the urogenital system. Fetuses with nonspecific ultrasound anomalies had the highest diagnostic yield in fetuses with an intrauterine growth restriction at 5.9%. Overall, fetuses with a nonspecific ultrasound anomaly were affected with pathogenic copy number variants in 1.6% in the cases.
Conclusions
The diagnostic yield of chromosomal microarray in fetuses with normal karyotype and ultrasound abnormality confined to a single anatomic system was highest if it involved cardiac defects or intrauterine growth restriction. This diagnostic yield ranges from 0% to 4.6% depending on the anatomic system involved. Chromosomal microarray has considerable diagnostic value in these pregnancies.
Virtual poster abstractsthe parents about the expected health problems can be given and vice versa inconspicuous results decrease the risk for an underlying genetic disease. This valuable Information can help the parents to make an informed and safer decision about the continuation of pregnancy.
Objectives:We conducted a cost-utility study in the high-risk population for Trisomy 21 screening in order to determine if this strategy is cost-effective, compared to the current strategy based solely on age and nuchal sonolucency, which is the current strategy in the guidelines of the Ministry of Health in Colombia. Methods: Type of study: an economic evaluation, a cost-utility study with economic modelling using a decision tree model.Target population: pregnant women with advanced maternal age, older than 35 years in Colombia. Intervention: screening strategy based on non-invasive genetic screening tests (NIPT) with fetal free DNA. Comparators: ultrasound screening strategy. Outcome: Quality-adjusted life years (QALYs). Perspective: perspective of the Colombian health system. Discount rate: As the time horizon was less than one year, no discount rates were applied. Result unit: Colombian pesos of 2021 (1 USD = 4,007 COP) (Banrep, 2021). Use of resources and costs: For the monetary valuation, the ISS 2001 tariff manual was used, with an adjustment of 35%. Results: In our baseline scenario, screening for Trisomy 21 with free fetal DNA testing (NIPT) compared to the current strategy (screening based on maternal age and ultrasound) is a more costly and more effective strategy than the current strategy and is in the quadrant I of the cost-effectiveness plane. For screening with free fetal DNA, the incremental cost-effectiveness ratio was calculated, finding that it is: $38,570,070.09 COP per quality-adjusted life year (QALY). This value is below the two GDP per capita in Colombia (November 2021 would be $42,737,059.2 COP.
Conclusions:The results of this cost-utility study from the perspective of the payer in Colombia, conclude that the screening strategy with the non-invasive screening test (NIPT) is a cost-effective strategy with a threshold of less than 3 GDP per capita in women of pregnant women over 35 years of age and that this value is maintained in different scenarios that analyse the uncertainty of the main parameters.
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