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CC BY-NC-ND 4.0 · Rev Bras Ginecol Obstet 2018; 40(07): 384-389
DOI: 10.1055/s-0038-1666996
Original Article
Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil

First-trimester Combined Screening Test for Aneuploidies in Brazilian Unselected Pregnancies: Diagnostic Performance of Fetal Medicine Foundation Algorithm

Rastreio combinado do primeiro trimestre para aneuploidias em gestantes brasileiras não selecionadas: desempenho diagnóstico do algoritmo da Fetal Medicine Foundation
Laila Pinheiro Abi Abib
1   Department of Woman and Child Health, Universidade Federal Fluminense, Niterói, RJ, Brazil
,
Renato Augusto Moreira de Sá
1   Department of Woman and Child Health, Universidade Federal Fluminense, Niterói, RJ, Brazil
,
Fernando Maia Peixoto-Filho
1   Department of Woman and Child Health, Universidade Federal Fluminense, Niterói, RJ, Brazil
› Author Affiliations
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Publication History

03 October 2017

17 May 2018

Publication Date:
16 July 2018 (online)

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Abstract

Objective The main objective of this study was to examine the diagnostic performance of the first-trimester combined test for aneuploidies in unselected pregnancies from Rio de Janeiro and compare it with the examples available in the literature.

Methods We investigated 3,639 patients submitted to aneuploidy screening from February 2009 to September 2015. The examination is composed of the Fetal Medicine Foundation risk evaluation based on nuchal translucency evaluation, mother's age, presence of risk factors, presence of the nasal bone and Doppler of the ductus venous in addition to biochemical analysis of pregnancy-associated plasma protein A (PAPP-A) and beta-human chorionic gonadotropin (β−hCG) markers. The cut-off point for high risk for aneuploidies was defined as greater than 1:100, with intermediate risk defined between 1:100 and 1:1,000, and low risk defined as less than 1:1,000. The variable aneuploidy was considered as a result not only of trisomy of chromosome 21 but also trisomy of chromosomes 13 and 18.

Results Excluding the losses, the results of 2,748 patients were analyzed. The first-trimester combined test achieved 71.4% sensitivity with a 7.4% false-positive (FP) rate, specificity of 92.6%, positive predictive value (PPV) of 6.91% and negative predictive value (NPV) of 99.76%, when the cut-off point considered was greater than 1:1,000. Through a receiving operating characteristics (ROC) curve, the cut-off point that maximized the sensitivity and specificity for the diagnosis of aneuploidies was defined as 1:1,860. When we adjusted the false-positive (FP) rate to 5%, the detection rate for this analysis is 72.7%, with a cut-off point of 1:610.

Conclusion The combined test of aneuploidy screening showed a detection rate inferior to those described in the literature for a higher FP rate.

Resumo

Objetivo O objetivo principal deste estudo foi examinar o desempenho diagnóstico do rastreio combinado de aneuploidias do primeiro trimestre em gestações não selecionadas do Rio de Janeiro e compará-lo com os exemplos disponíveis na literatura.

Métodos Investigamos 3.639 pacientes submetidas à triagem para aneuploidia, de fevereiro de 2009 a setembro de 2015. O exame é composto pela avaliação do risco da Fetal Medicine Foundation com base na avaliação da translucência nucal, idade da mãe, presença de fatores de risco, presença de osso nasal e Doppler do ducto venoso, além da análise bioquímica dos marcadores proteína A plasmática associada à gravidez (PAPP-A) e gonadotrofina coriônica humana-beta (β−hCG). O ponto de corte para alto risco de aneuploidias foi definido como superior a 1:100, para risco intermediário foi definido entre 1: 100 e 1: 1.000 e para baixo risco foi definido como inferior a 1:1.000. A variável aneuploidia foi considerada não apenas como resultado da trissomia do cromossomo 21, mas também da trissomia dos cromossomos 13 e 18.

Resultados Excluindo as perdas, foram analisados os resultados de 2.748 pacientes. O teste combinado do primeiro trimestre alcançou 71,4% de sensibilidade com uma taxa de falsos positivos (FPs) de 7,4%, especificidade de 92,6%, (valor preditivo positivo) VPP de 6,91% e (valor preditivo negativo) VPN de 99,76%, quando o ponto de corte considerado foi maior que 1:1.000. Através de uma curva de característica de operação do receptor (COR), o ponto de corte que maximizou a sensibilidade e especificidade para o diagnóstico de aneuploidias foi de 1:1.860. Quando corrigimos a taxa de FP para 5%, a taxa de detecção para esta análise é de 72,7%, com um ponto de corte de 1:610.

Conclusão O rastreio combinado de aneuploidia mostrou uma taxa de detecção inferior à descrita na literatura para uma maior taxa de FP.

Keywords

chromosomal anomalies - aneuploidy - trisomy 21 - nuchal translucency measurement - PAPP-A - β−HCG - pregnancy complications - biomarkers - screen tests on maternal serum

Palavras-chave

anomalias cromossômicas - aneuploidia - trissomia 21 - medida da translucência nucal - PAPP-A - β−HCG - complicações de gravidez - biomarcadores - testes de rastreio em soro materno

Contributions

Abib L. P. A., Sá R. A. M. and Peixoto-Filho F. M. contributed with project and interpretation of data, writing of the article, critical review of the intellectual content and final approval of the version to be published.


 

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