RESUMEN
PURPOSE: To report the clinical experience and performance of plasma cell-free DNA sequencing-based noninvasive -prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, 13 (T21/T18/T13) as well as sex chromosome aneuploidy (SCA) in a mixed-risk population in Iran. METHODS: In a 2-year period between January 1, 2015, and December 31, 2016, over 150 medical centers in Iran offered NIPT as clinical screening tests for fetal T21, T18, T13 and SCA. All NIPT positive cases were recommended to undergo invasive prenatal diagnosis. RESULTS: 11,414 maternal blood samples were received for NIPT, for which 11,223 samples obtained NIPT results. Among 11,213 cases with confirmatory results, 94 T21, 39 T18, 8 T13, 15 XO, 6 XXX, 3 XYY, 5 XXY and 11,042 euploid cases were detected. The overall sensitivity of NIPT was 98.90, 100.00, 100.00, 90.91, 100.00, 100.00 and 100.00%, and specificities were 99.96, 99.97, 99.99, 99.96, 99.98, 100.00 and 99.99% for detecting T21, T18, T13, XO, XXX, XYY and XXY, respectively. CONCLUSION: With a stringent protocol, our prospective large-scale multicentric nationwide study demonstrated that NIPT showed excellent performance as screening test for the detection of fetal T21, T18, T13 and SCA in mixed-risk pregnancies in Iran.
Asunto(s)
Pruebas Prenatales no Invasivas/estadística & datos numéricos , Aberraciones Cromosómicas Sexuales , Trisomía/diagnóstico , Adolescente , Adulto , Ácidos Nucleicos Libres de Células/sangre , Femenino , Humanos , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Embarazo , Estudios Prospectivos , Análisis de Secuencia de ADN , Adulto JovenRESUMEN
Physiologic changes during pregnancy can deteriorate or improve patients' hemodynamic status in the setting of valvular heart disease. There are sparse data regarding the effect of pregnancy on valve hemodynamics in normal pregnant women with known valvular heart disease. In a prospective study from July 2014 to January 2016, a total of 52 normal pregnant women who had mitral stenosis, aortic stenosis, or a history of mitral valve or aortic valve replacements were assessed. All patients underwent echocardiographic examinations and hemodynamic parameters were measured for both the mitral valve and aortic valve at first, second, and third trimesters. The parameters included mean gradient, peak gradient, mean gradient/heart rate, peak gradient/heart rate, pressure halftime, dimensionless velocity index, and valve area. Although most hemodynamic parameters (i.e., mean gradient, peak gradient, mean gradient/heart rate, and peak gradient/heart rate) increased approximately 50% from first to second trimester and first to third trimester (p <0.05) but those remained stable at third compared with second trimester (p >0.05). The ratio of changes between trimesters for valve area and dimensionless velocity index were comparable. No clinical decompensations were observed except for 3 and 7 cases of deterioration to functional class II at second and third trimesters, respectively. In conclusion, during a full-term and uncomplicated pregnancy, mitral and aortic valve gradients increase without significant changes in valve area that are more marked between the second and first trimester than between the third and second trimester.
Asunto(s)
Estenosis de la Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Mitral/diagnóstico por imagen , Válvula Mitral/diagnóstico por imagen , Complicaciones Cardiovasculares del Embarazo/diagnóstico por imagen , Adulto , Estenosis de la Válvula Aórtica/cirugía , Bioprótesis , Estudios de Cohortes , Ecocardiografía , Ecocardiografía Doppler , Femenino , Prótesis Valvulares Cardíacas , Implantación de Prótesis de Válvulas Cardíacas , Hemodinámica , Humanos , Estenosis de la Válvula Mitral/cirugía , Embarazo , Estudios Prospectivos , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
We investigated polymorphisms of plasminogen activator inhibitor-1 (PAI-1), angiotensin converting enzyme (ACE ) and coagulation factor XIII (FXIII) genes and their association with recurrent spontaneous abortion (RSA) in Iranian patients and normal healthy controls. Ten (18.5%) patients were homozygote (4G/4G) for PAI-1 polymorphism, in contrast with two (2%) controls (p = 0.001). Patients with homozygote 4G mutation were significantly more prone to RSA in contrast to others (odds ratio: 11.0, 95% CI: 2.3-52.4). Nineteen (30.2%) patients and 25 (26.6%) controls were homozygote (DD) for ACE polymorphism. We observed only two patients and one control with homozygosity (34leu) for FXIII polymorphism. 4G/4G polymorphism for PAI-1 gene could be a thrombophilic mutation leading to abortion in Iranian population.