El objetivo de este grupo de trabajo ha sido conseguir un consenso sobre qué debe o no debe hacerse frente a la toxoplasmosis congénita. Según los conocimientos actuales, que a continuación se resumen, se ha podido llegar a las siguientes conclusiones:.—Las medidas higiénicas y los hábitos culinarios que forman parte de la prevención primaria de la toxoplasmosis están recomendados en todo embarazo, son de aplicación muy simple y su beneficio es indudable.—Los programas de prevención secundaria de la toxoplasmosis congénita (cribado sistemático en la población gestante y prevención, diagnóstico y tratamiento de la infección fetal) no cumplen, en el momento actual, los criterios fundamentales para que se realicen como medida de salud pública en España. Se desconoce el impacto poblacional de este tipo de programas.—Debe considerarse la oportunidad de implantar programas de prevención terciaria mediante cribado neonatal de la toxoplasmosis.

American Journal of Medical Genetics Part AVolume 117A, Issue 1 p. 85-86 Research Letter Prenatal diagnosis of a rare chromosomal instability syndrome: Variegated aneuploidy related to premature centromere division (PCD) A. Plaja, Corresponding Author A. Plaja aplaja.@cs.vhebron.es Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainUnitat de Genètica, Hospital Materno-Infantil Vall d'Hebron, Pg. Vall d'Hebron 119-129, 08035 Barcelona, Spain.Search for more papers by this authorC. Mediano, C. Mediano Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorL. Cano, L. Cano Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorT. Vendrell, T. Vendrell Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorE. Sarret, E. Sarret Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorI. Farràn, I. Farràn Unitat de Diagnos̀tic Prenatal, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorM.A. Sánchez, M.A. Sánchez Unitat de Diagnos̀tic Prenatal, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this author A. Plaja, Corresponding Author A. Plaja aplaja.@cs.vhebron.es Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainUnitat de Genètica, Hospital Materno-Infantil Vall d'Hebron, Pg. Vall d'Hebron 119-129, 08035 Barcelona, Spain.Search for more papers by this authorC. Mediano, C. Mediano Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorL. Cano, L. Cano Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorT. Vendrell, T. Vendrell Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorE. Sarret, E. Sarret Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorI. Farràn, I. Farràn Unitat de Diagnos̀tic Prenatal, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorM.A. Sánchez, M.A. Sánchez Unitat de Diagnos̀tic Prenatal, H. Materno-Infantil Vall d'Hebron, Barcelona, SpainSearch for more papers by this author First published: 18 September 2002 https://doi.org/10.1002/ajmg.a.10810Citations: 10Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume117A, Issue115 February 2003Pages 85-86 RelatedInformation

Objective To investigate amniotic fluid (AF) samples retrieved in multiple pregnancies by single insertion of the needle. for rapid assessment of chromosome copy number, zygosity, and cross-contamination between fetuses, using Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) amplification of highly polymorphic microsatellite markers.Methods Fifty-two multiple pregnancies were selected (47 twins, 5 triplets) and 108 samples of amniotic fluid were sampled between 12 to 20 weeks of gestation (mean 15.5) using the single-needle technique. Aneuploidy screening by QF-PCR amplification of short tandem repeats (STRs) on chromosomes X, Y, 21, 13, and 18 was carried out within 24 It of collection. Owing to the sampling procedure, the eventual presence of contamination between fetuses was also evaluated in every case.Results Normal and aneuploid fetuses were readily identified by QF-PCR. Fetal reduction was made available, for trisomic fetuses, without further waiting for completion of fetal karyotyping. In twin gestations, the ultrasound examination of chorionicity was always in agreement with the molecular assessment of zygosity. Contamination between fetuses due to the sampling procedure with a single puncture was never observed.Conclusion Rapid prenatal diagnosis of aneuploidies by QF-PCR is a sensitive, efficient, and reliable assay. When applied in multiple pregnancies, it has the added value of allowing the assessment of zygosity in all cases, independently of chorionicity and fetal sex. Copyright (C) 2003 John Wiley Sons, Ltd.

Resumen Fundamentos La biopsia corial transabdominal se ha empleado en algunos grupos como una tecnica de eleccion para el diagnostico prenatal en el primer trimestre Objetivo Estudiar la seguridad y fiabilidad de la biopsia corial transabdominal mediante aspiracion con aguja en el primer trimestre Pacientes y metodos Estudio prospectivo. Pacientes con indicacion para estudio prenatal mediante biopsia corial, feto unico y edad gestacional comprendida entre las 9 y las 12 semanas Resultados Las indicaciones mas frecuentes para la biopsia corial fueron el estudio del cariotipo (82,19%) y de enfermedades mendelianas (17,81%). Se obtuvo material con una puncion en el 95,98% de los casos. El porcentaje de discrepancias fue del 1,9%. Hubo un 15,2% de perdidas gestacionales totales de las cuales un 10% correspondio a anomalias cromosomicas y genicas. La tasa de perdidas gestacionales incluyendo muertes perinatales en fetos con estudio normal fue del 5% Conclusiones La biopsia corial transabdominal es una tecnica fiable y segura en nuestro medio

Estudiar el grado de aceptación de la amniocentesis y sus diferencias en función de la indicación entre las pacientes con riesgo secundario a la edad y riesgo secundario al cribado bioquímico Se incluyó a las gestantes referidas a la unidad de diagnóstico prenatal para estudio de cariotipo fetal durante un período de 7 años. Las pacientes fueron clasificadas en dos grupos según la indicación: grupo I (edad) y grupo II (cribado indicativo) Se incluyó a 9.227 mujeres: 4.859 con la indicación de edad materna y 4.368 con indicación por cribado bioquímico. Rechazaron la amniocentesis 176 gestantes en el grupo I (el 3,62%; intervalo de confianza (IC) del 95%, 3,35–3,89%) y 152 mujeres en el grupo II (el 3,48%; IC del 95%, 3,32–3,75%). Tras un período de reflexión, reconsideraron su decisión 21 pacientes en el grupo I (12%) y 22 en el grupo II (14%) La tasa de aceptación de la amniocentesis en nuestro centro fue del 96,92% (IC del 95%: 96,74-97,1%) To study the degree of acceptance of amniocentesis according to possible differences between patients who were considered at risk due to maternal age and those offered amniocentesis as a consequence of abnormalities detected by biochemical screening We included all the patients referred for fetal karyotyping in a 7-year period. Patients were classified according to indications for amniocentesis: group I (maternal age) and group II (abnormal serum screening) A total of 9,227 patients were included: 4,859 because of maternal age and 4,368 because of abnormalities detected by biochemical screening; 176 women in group I (3.62%; 95% CI, 3.35%–3.89%) and 152 women in group II ( 3.48%; 95% CI, 3.32%–3.75%) refused the procedure. After a reconsideration period, 21 patients (12%) in group I and 22 patients (14%) in group II decided to accept the procedure The overall uptake of amniocentesis for prenatal karyotyping in our center was 96.92% (95% CI, 96.74%-97.1%)

To evaluate results of a prospective study of pregnancies in which early amniocentesis with the filtration technique was performed at 10–13 weeks' gestation (mean 12.3 weeks' gestation).

In 1991 Lockwood was the first to evaluate the utility in the evaluation of fetal fibronectin in the cervical-vaginal fluids, as a biochemical method of imminent preterm labor, nowadays the birth of preterm. infant (before 37 weeks) is the first cause of morbility and mortality in Mexico and in the world.The objective of this present investigation is determine the fetal fibronectin as a predictor of preterm. births and compare them with the prognosis values of other clinical indicators as a tocolysis and Bishop valoration. Our results of 77 patients that fulfilled the inclusion criteria, 39 (50.6%) had positive fibronectin (FnF+) and in 38 % (49.4%) fibronectin was reported as negative (FnF-). Of 39 patients with FnF(+), 13 had delivery before two weeks, having a sensibility of 33%, while 26 (67%) after two weeks. In the group of the FnF(-), of 38 patients, 3 (7.8%) were born before two weeks, while 35 were born after two week, having a specificity of 92.2%.

The clinical results are compared in a group of 40 patients with the indication of the pregnancy interruption and unripening cervix (bishop of 6 or <) treated with intracervical dinoprostona, with the obtained result with another group of 40 patients with similar clinical characteristic treated with misoprostol oral. The following clinical variables were evalued: time passed between the beginning of the induction and bishop of 7 or >, misoprostol group 4:59 min, dinoprostona group 690 min, the difference is of 238 min; time passed between medical administration and regular delivery work, misoprostol 326 min, dinoprostona 615 min, the difference is 289 min; time passed between the induction and the moment of the delivery: misoprostol 622 min, dinoprostona 951 min, difference of 329 min. The mode of delivery and the perinatal outcome were similar in both groups. Because of the therapeutic effectiveness, less cost and administration facilities, the misoprostol oral can constitute an effective option in the treatment of a high risk pregnancy.

We report an 18-week-old fetus with at 47, XY, -12, +12q, +psu idic(12p) karyotype, mild dysmorphic features and absence of the brachiocephalic truncus.