RESUMEN
OBJECTIVES: To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing, mainly in terms of detection rates for trisomy 21, performed by 2 laboratories using different analytical methods. METHODS: cfDNA testing was performed on 2,870 pregnancies with the HarmonyTM Prenatal Test using the targeted digital analysis of selected regions (DANSR) method, and on 2,635 pregnancies with the "Cerba test" using the genome-wide massively parallel sequencing (GW-MPS) method, with available outcomes. Propensity score analysis was used to match patients between the 2 groups. A comparison of the detection rates for trisomy 21 between the 2 laboratories was made. RESULTS: In all, 2,811 patients in the Harmony group and 2,530 patients in the Cerba group had no trisomy 21, 18, or 13. Postmatched comparisons of the patient characteristics indicated a higher no-result rate in the Harmony group (1.30%) than in the Cerba group (0.75%; p = 0.039). All 41 cases of trisomy 21 in the Harmony group and 93 cases in the Cerba group were detected. CONCLUSIONS: Both methods of cfDNA testing showed low no-result rates and a comparable performance in detecting trisomy 21; yet GW-MPS had a slightly lower no-result rate than the DANSR method.
Asunto(s)
Ácidos Nucleicos Libres de Células/sangre , Técnicas de Laboratorio Clínico/normas , Pruebas de Detección del Suero Materno/normas , Diagnóstico Prenatal/normas , Puntaje de Propensión , Adulto , Ácidos Nucleicos Libres de Células/genética , Técnicas de Laboratorio Clínico/métodos , Síndrome de Down/sangre , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Femenino , Estudios de Seguimiento , Humanos , Edad Materna , Pruebas de Detección del Suero Materno/métodos , Embarazo , Diagnóstico Prenatal/métodos , Estudios Prospectivos , Síndrome de la Trisomía 13/sangre , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 18/sangre , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/genéticaRESUMEN
OBJECTIVE: To evaluate the Fetal Medicine Foundation (FMF) algorithm prospectively at 11-13 weeks' gestation in the prediction of preeclampsia (PE). METHODS: Single-center prospective screening study for PE of singleton pregnancies at 11-13 weeks. The FMF algorithm takes into account maternal characteristics and biomarkers. Detection rate (DR) for a 10% false-positive rate (FPR) for delivery with preterm and term PE was estimated. RESULTS: Between January 2011 and December 2013, of 3,239 patients available for final analysis, 36 (1.1%) subsequently developed preterm and 44 (1.4%) term PE. In combined screening by maternal factors, mean arterial pressure, uterine artery pulsatility index, and serum placental growth factor, the DR was 80.6% (95% CI 64.0-91.8) for PE at <37 weeks and 31.8% (95% CI 18.6-47.6) for PE at ≥37 weeks, at a 10% FPR. CONCLUSION: Our data suggest that the FMF algorithm provides effective first-trimester screening for preterm PE.
Asunto(s)
Preeclampsia/diagnóstico , Primer Trimestre del Embarazo , Adolescente , Adulto , Algoritmos , Biomarcadores/sangre , Presión Sanguínea/fisiología , Femenino , Feto/irrigación sanguínea , Humanos , Persona de Mediana Edad , Preeclampsia/diagnóstico por imagen , Embarazo , Estudios Prospectivos , Factores de Riesgo , Ultrasonografía Doppler , Arteria Uterina/diagnóstico por imagen , Adulto JovenRESUMEN
PURPOSE: Placenta previa is a major cause of maternal morbidity and mortality, associated to a high risk of peripartum hemorrhage and hysterectomy. We aimed to verify if prophylactic intraoperative uterine artery embolization in patients with placenta previa and at least one additional risk of bleeding (major placenta previa), can reduce hemorrhage, need for blood transfusions, peripartum hysterectomy and maternal morbidity. MATERIALS AND METHODS: We enrolled 76 patients with major placenta previa; a specific multidisciplinary protocol was designed for management, including ultrasound evaluation, hospitalization at 34 weeks, antenatal corticosteroids and scheduled cesarean section at 35-36 weeks. 44 patients (control group or CTR) were treated with elective cesarean section, 32 patients (embolized group or EMB) underwent selective catheterization of bilateral uterine arteries before cesarean section and subsequent uterine embolization. In both cases cesarean section was performed by a senior surgeon. RESULTS: Significant differences were found in term of intraoperative blood loss (CTR: 1431 ml; EMB: 693 ml); despite an high percentage of CTR patients had a bleeding greater than 1000 ml (56%), the need for blood transfusion was not significantly different between the two groups. Time of surgery was higher in the EMB group, considering that embolization procedure required approximatively 30 min. Three patients from the CTR group needed hysterectomy and ICU admission, compared to none in the EMB group. Duration of hospitalization and neonatal outcome were similar. Uterine embolization was not related to any short or long-term complications; return to normal menses and preservation of fertility were confirmed at follow up. CONCLUSIONS: Our results are promising, although we believe that a major contribution is referable to the multidisciplinary approach rather than the procedure itself. Nevertheless, we demonstrated the feasibility and safety of preventive uterine embolization in patients with placenta previa; in order to establish its prophylactic role in the prevention of peripartum hemorrhage, randomized trial should be carried out, on a larger population.