First-Trimester Biochemical Screening For Low Birth Weight: Clinical Effectiveness of Low Pregnancy-Associated Plasma Protein-A and High Thyroid-Stimulating Hormone.

BACKGROUND: Low birth weight (LBW) can be an important adverse neonatal outcome in terms of morbidity and mortality. The aim of this study is to investigate the screening effectiveness of first-trimester low pregnancy-associated plasma protein A (PAPP-A) and high serum thyroid-stimulating hormone (TSH) and the combination of both markers for predicting LBW. METHODS: We performed a retrospective cohort study of women undergoing first-trimester assessment in our center. We considered low PAPP-A as < 5th percentile for gestational age. High serum TSH was defined as > 2.5 mU/L, according to the American Thyroid Association (ATA) recommendation. Receiver-operating characteristic (ROC) curves were plotted to evaluate screening performance. Multivariate logistic regression was accomplished to calculate adjusted risks to identify the association between both parameters with LBW. RESULTS: Overall, 4,396 women met the inclusion criteria. Of these, 277 (6.3%) delivered a LBW baby. The use of either low PAPP-A or high TSH yielded the highest sensitivity (21.1%) with a specificity of 85.7%. Combining both markers showed an increased association (adjusted OR 9.07 [95% CI 3.34 - 24.6]) at the expense of a significant reduction in sensitivity (7.8%). CONCLUSIONS: First-trimester low PAPP-A is associated with LBW at delivery. Neither of these biomarkers or their combination are acceptable predictors to be clinically useful tools for LBW.

Gynecological management of patients diagnosed with fanconi anemia / Manejo ginecológico de la paciente diagnosticada de anemia de fanconi

We present the gynecological and clinical management of women diagnosed with Fanconi anemia at our hospital, which is a reference center in Spain. Fanconi anemia is considered a rare disease. It is an autosomal recessive chromosomal instability syndrome in which more than 20 genes are affected. The disease involves progressive bone marrow failure, various congenital abnormalities, and an increased predisposition to cancer; hence the importance of a gynecological management protocol

Presentamos el manejo clínico ginecológico que llevamos a cabo en nuestro hospital de las pacientes mujeres diagnosticadas con anemia de Fanconi; siendo nuestro hospital uno de los hospitales de referencia en nuestro país. La anemia de Fanconi, considerada como una de las enfermedades raras, es una enfermedad autosómica recesiva, con inestabilidad cromosómica. En la actualidad se han descrito más de 20 genes afectados. Clínicamente hay una insuficiencia medular progresiva, diversas anomalías congénitas e incremento a la predisposición a producir cáncer; de allí la importancia de protocolizar la actuación de manejo de estas pacientes desde el punto de vista ginecológico