RESUMEN
PURPOSE: Multiple chromosomal aneuploidies may be associated with maternal malignancies and can cause failure of noninvasive prenatal screening (NIPS) tests. However, multiple chromosomal aneuploidies show poor specificity and selectivity for diagnosing maternal malignancies. METHODS: This multicenter retrospective analysis evaluated 639 pregnant women who tested positive for multiple chromosomal aneuploidies on initial NIPS test between January 2016 and December 2017. Women were assessed using genome profiling of copy-number variations, which was translated to cancer risk using a novel bioinformatics algorithm called the cancer detection pipeline (CDP). Sensitivity, specificity, and positive predictive value (PPV) of diagnosing maternal malignancies were compared for multiple chromosomal aneuploidies, the CDP model, and the combination of CDP and plasma tumor markers. RESULTS: Of the 639 subjects, 41 maternal malignant cancer cases were diagnosed. Multiple chromosomal aneuploidies predicted maternal malignancies with a PPV of 7.6%. Application of the CDP algorithm to women with multiple chromosomal aneuploidies allowed 34 of the 41 (83%) cancer cases to be identified, while excluding 422 of 501 (84.2%) of the false positive cases. Combining the CDP with plasma tumor marker testing gave PPV of 75.0%. CONCLUSION: The CDP algorithm can diagnose occult maternal malignancies with a reasonable PPV in multiple chromosomal aneuploidies-positive pregnant women in NIPS tests. This performance can be further improved by incorporating findings for plasma tumor markers.
Asunto(s)
Trastornos de los Cromosomas/diagnóstico , Neoplasias/diagnóstico , Pruebas Prenatales no Invasivas/métodos , Adulto , Algoritmos , Aneuploidia , Biología Computacional , Femenino , Pruebas Genéticas , Humanos , Edad Materna , Madres , Neoplasias/genética , Embarazo , Diagnóstico Prenatal/métodos , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
INTRODUCTION: Human papillomavirus (HPV) infection is one of the major health concerns of women in developing countries. This study gives an insight into the prevalence and genotype distribution of HPV infection and compares it with Pap smear results among Iranian women. METHODS: In this study, 12 076 Iranian women underwent routine examination from November 2016 to November 2018 using HPV Direct Flow CHIP System for HPV DNA typing. Cytology was undertaken for 5138 samples. RESULTS: Overall HPV prevalence was calculated at 38.68%. The most frequent HPV types were HPV 6, 16, 11, 62/81, 52 and 54. The most high-risk HPV (HR-HPV) types were HPV 16, 52, 18, 39, 31 and 51. These 2 groups represent approximately half of all HPV types detected, 47% and 55%, respectively. Among individuals who underwent cytological tests, 135 individuals (2.63%) were cytologically positive. In this group, 81 individuals (60%) were HPV positive, 62 (76%) of whom were HR-HPV positive, most frequently with HPV 16 (34%). CONCLUSION: This study highlights the urgent need for public education and early diagnosis using HPV screening tests to prevent cervical cancer.