Catastrophic antiphospholipid syndrome during pregnancy.

Catastrophic antiphospholipid syndrome (CAPS) is an uncommon and the most severe form of antiphospholipid syndrome (APS). A 33-week pregnant patient with Klippel-Trenaunay syndrome, past SARS-CoV-2 infection and type I fetal growth restriction with shortening of the fetal long bone was diagnosed in our center with a probable CAPS. Cesarean section was performed four days after the diagnosis due to the torpid evolution of the patient. Clinical improvement was noted a few days later and the mother and baby were discharged within a week. We review the current literature on CAPS during pregnancy and provide an updated view.

A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening.

OBJECTIVE: To assess the results of the first trimester combined test to design a prenatal protocol for the introduction of the cell-free fetal DNA test as a contingent screening model. METHOD: An observational retrospective study in 12,327 singleton pregnancies to analyze the results of the combined first trimester screening, the nuchal translucency ≥97.5 percentile, their cytogenetic results and birth outcomes. RESULTS: A total of 533 (4.3%) pregnant women had a risk in combined first trimester screening above 1/300. In this group, sixty nine had an unbalanced karyotype. The abnormal/normal karyotype ratio was 1/28 in pregnant women with intermediate risk (1/51-1/300) for trisomy 21 and trisomy 18, 1/58 with intermediate risk just for trisomy 21 and 1/37 with intermediate risk just for trisomy 18. A 19.8% of the unbalanced karyotypes had chromosomal abnormalities other than trisomies 21, 18 and 13. Two false negatives cases at first trimester combined screening presented a nuchal translucency ≥ p97.5th. CONCLUSION: We propose the introduction of the cell-free fetal DNA test when the risk of first trimester combined screening is intermediate (1/51-1/300) and when nuchal translucency is ≥ p97.5th with a low risk in the combined screening. This policy would allow us to continue to detect uncommon chromosomal abnormalities.

Defectos de cierre de la pared abdominal: gastrosquisis / Abdominal wall defects: gastroschisis

Objetivo. La gastrosquisis es un defecto de la pared abdominal, a nivel paraumbilical generalmente derecho, que cursa con la extrusión libre de las asas intestinales. El contacto de estas con sustancias irritantes presentes en el líquido amniótico condiciona la lesión intestinal, factor más importante en el pronóstico neonatal. Métodos. Su incidencia se ha visto incrementada en los últimos años quizás por la mejora en las tasas de diagnóstico prenatal. El diagnóstico y seguimiento por ultrasonidos han permitido anticiparse a sus complicaciones, causa principal de morbimortalidad en estos casos. Por ello es muy importante llevar a cabo un plan diagnóstico-terapéutico que coordine al obstetra, al pediatra y al cirujano pediátrico. Conclusión. Este estudio se ha llevado a cabo con el fin de revisar y analizar en la bibliografía existente los puntos más controvertidos en el seguimiento y tratamiento de esta patología, además de mostrar los resultados obtenidos en nuestro centro en los últimos años (AU)

Objetive. Gastroschisis is an abdominal wall defect, usually located to the right of the umbilical cord insertion, leading to freely floating bowel loops outside the fetal abdomen. Contact with irritants in the amniotic fluid causes the intestinal injury, the most important factor in neonatal outcome. Methods. The incidence of this entity has increased in recent years, possibly due to improved prenatal diagnosis rates. Ultrasound diagnosis and monitoring have allowed the prevention of complications, the main cause of morbidity and mortality in these cases. Therefore, a therapeutic-diagnosis plan to coordinate the obstetrician, pediatrician and pediatric surgeon is of the utmost importance. Conclusion. This study was conducted to analyze the most controversial issues in the monitoring and treatment of this defect, and to compare the results obtained in our center with those reported in the literature (AU)