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1.
Prenat Diagn ; 33(12): 1183-8, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23943085

RESUMO

OBJECTIVE: This study aimed to determine the predictive value of growth factors, cardiovascular, and immunological markers for first trimester identification of early onset pre-eclampsia (PE). METHODS: In a retrospective case-control study, maternal serum samples of 35 early onset PE cases and 35 controls were analysed by multiplexed immunoassays, to determine serum concentrations of 41 proteins whose functionality can be associated with PE pathogenesis. All levels were converted into multiples of the gestation-specific normal median. For prediction modelling, proteins that were found to be significant were combined with previously obtained values of three established PE markers, that is, placental growth factor, placental protein 13, and pregnancy-associated plasma protein A. Prediction modelling was used to determine predicted detection rates for 5% and 10% false-positive rates. RESULTS: Three of the proteins examined in this study, interleukin-1 beta (IL-1ß), fibrinogen, and carcinoembryonic antigen, showed significantly different serum levels at p < 0.05. In prediction modelling, only IL-1ß added predictive value to the three previously established biomarkers, by increasing detection from 38.2% to 44.1% at a 5% false-positive rate. CONCLUSIONS: This study indicates that IL-1ß has potential to improve first trimester prediction of pre-eclampsia. Studies on larger cohorts will be needed to validate these findings.


Assuntos
Biomarcadores/sangue , Imunoensaio/métodos , Interleucina-1beta/sangue , Pré-Eclâmpsia/sangue , Adulto , Antígeno Carcinoembrionário/sangue , Estudos de Casos e Controles , Reações Falso-Positivas , Feminino , Fibrinogênio/análise , Humanos , Inflamação/sangue , Gravidez , Primeiro Trimestre da Gravidez , Estudos Retrospectivos
2.
Mol Cytogenet ; 16(1): 34, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38031124

RESUMO

In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.

3.
Obstet Gynecol Surv ; 66(4): 225-39, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21756405

RESUMO

UNLABELLED: Preeclampsia (PE) affects 1% to 2% of pregnant women and is a leading cause of maternal and perinatal morbidity and mortality worldwide. The clinical syndrome of PE arises in the second half of pregnancy. However, many underlying factors including defective placentation may already be apparent in the first and early second trimester in many patients. In clinical practice, there is currently no reliable screening method in the first trimester of pregnancy with sufficient accuracy to identify women at high risk to develop PE. Early identification of high-risk pregnancy may facilitate the development of new strategies for antenatal surveillance or prevention and thus improve maternal and perinatal outcome. The aim of this systematic review was to study the literature on the predictive potential of first-trimester serum markers and of uterine artery Doppler velocity waveform assessment (Ut-A Doppler). Literature on the 7 most studied serum markers (ADAM12, fß-hCG, Inhibin A, Activin A, PP13, PlGF, and PAPP-A) and Ut-A Doppler was primarily selected. In the selected literature, a combination of these markers was analyzed, and where relevant, the value of maternal characteristics was added. Measurements of serum markers and Ut-A Doppler were performed between week 8 + 0 and 14 + 0 GA. Low levels of PP13, PlGF, and PAPP-A and elevated level of Inhibin A have been found to be significantly associated with the development of PE later in pregnancy. The detection rates of single markers, fixed at 10% false-positive rate, in the prediction of early-onset PE were relatively low, and ranged from 22% to 83%. Detection rates for combinations of multiple markers varied between 38% and 100%. Therefore, a combination of multiple markers yields high detection rates and is promising to identify patients at high risk of developing PE. However, large scale prospective studies are required to evaluate the power of this integrated approach in clinical practice. TARGET AUDIENCE: Obstetricians and Gynecologists, Family physicians Learning Objectives: After completion of this article, the reader should be better able to appraise the recent literature on the development of preeclampsia in the first-trimester, evaluate the predictive value of first-trimester markers and use first-trimester markers, either individually or in combination, to assess the risk of preeclampsia.


Assuntos
Pré-Eclâmpsia/sangue , Pré-Eclâmpsia/diagnóstico por imagem , Ultrassonografia Doppler , Artéria Uterina/diagnóstico por imagem , Biomarcadores/sangue , Feminino , Humanos , Gravidez , Primeiro Trimestre da Gravidez
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