Perinatal and long-term outcome of endoscopic laser surgery for twin-twin transfusion syndrome with and without selective fetal growth restriction: A retrospective cohort study.

OBJECTIVE: Report survival rates, neonatal mortality and morbidity and long-term outcomes of monochorionic (MC) twin pregnancies complicated by twin-to-twin transfusion syndrome (TTTS) or TTTS plus selective fetal growth restriction (sFGR) treated by endoscopic laser surgery. METHODS: Retrospective cohort study including 149 MC twin pregnancies complicated by TTTS or TTTS plus sFGR.Medical records were reviewed for survival rates, neonatal mortality, neonatal morbidity and long-term outcomes at 2 and 6 years of age. RESULTS: Survival of both babies was higher in the TTTS group than in the TTTS plus sFGR group (72.9%vs.54.8%); survival of at least one baby was similar in the two groups (90.7% and 88.1%). The incidence of severe neurological disability was not significantly different between TTTS and TTTS plus fetal growth restriction group at both stages, 1.9% versus 2.3% (p-value = 1) and 3.4%vs6.1% (p-value = 0.31). Multivariable analysis demonstrated that intact neurological outcome at 2 years of age was related with gestational age (GA) at birth and z score birthweight (Z BW), and at 6 years of age with GA at birth, Z BW and TTTS stage4. sFGR or abnormal brain findings at neonatal ultrasound were not related with impaired neurological outcome at two or 6 years of age. CONCLUSIONS: In pregnancies with TTTS and TTTS plus sFGR survival of at least one baby and long-term neurological outcome are comparable between both groups.

Decálogo del test de ADN-lc en sangre materna para diagnóstico prenatal (2020) / Decalogue of the lc-DNA test in maternal blood for prenatal diagnosis (2020)

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Métodos de cribado de aneuploidías en diagnóstico prenatal / Screening tests for fetal aneuplody in prenatal diagnosis

Las anomalías cromosómicas son una causa importante de muerte perinatal y discapacidad en la infancia. Entre ellas, la que de forma más común es causa de discapacidad a largo plazo es el síndrome de Down. Su diagnóstico es la indicación más habitual durante el embarazo para realizar procedimientos invasivos (biopsia corial, amniocentesis) con una tasa de aborto del 1%. Durante el embarazo se pueden ofrecer distintos test de cribado de síndrome de Down. Los avances en los últimos 40 años nos han demostrado pautas más eficaces que la edad materna para seleccionar a las pacientes susceptibles de riesgo de esta cromosomopatía. Esto no sólo ha aumentado las tasas de detección de ésta, sino que además ha reducido las tasas de falsos positivos del test, y por tanto han disminuido los procedimientos invasivos innecesarios y las tasas de abortos iatrogénicos. En esta revisión se aportan evicencias de los distintos test de cribado ofrecidos durante el embazo, la forma de combinar la información de éstos y la actitud de las embarazadas ante los resultados(AU)

Chromosomal defects are an important cause of death and handicap. Down syndrome is the most common of them and the diagnosis the most common indication for invasive procedures during pregnancy (chorionic villous sampling or amniocentesis) with a risk of miscarriage of 1%. We can offer different screening test for Down syndrome during pregnancy. Research in the last 40 years has proven that there are other test rather than maternal age to select the patients at risk for this chromosomal defect. This has not only increased the detection rate for that but also reduced the false positive rate of the tests, lowering unnecessary invasive procedures and iatrogenic miscarriages. In this review there are evidences of the different screening test offered during pregnancy, the way of combining the results of them and the attitudes of pregnant women to the results(AU)

Analysis of secondary ultrasound markers in the first trimester before chorionic villus sampling.

OBJECTIVE: To evaluate detection and false-positive rates of the ultrasound markers-nasal bone (NB), ductus venosus (DV) flow and tricuspid regurgitation (TR)-during the first trimester in a population at high genetic risk, and to study the influence of a two-stage screening policy alter previous combined screening on the rate of invasive procedures. METHODS: A total of 333 chorionic villus samples were obtained in singleton pregnancies. Before biopsy, the ultrasound markers-NB, DV, and TR-were assessed, although the findings were not used to recalculate the previously determined risk for Down syndrome. RESULTS: Detection and false-positive rates for Down syndrome were 63.2% and 3.4% for NB, 65% and 3.1% for DV, and 50% and 2.1% for TR. All three markers were normal in 30% [84/277, 95% confidence interval (CI) 25%-36%] of chorionic villus sampling (CVS) cases performed for abnormal findings at the first trimester genetic screen, with 0% (0/20, 95% CI 0%-17%) false-negative rate for Down syndrome. CONCLUSION: Assessment of secondary ultrasound markers is feasible in clinical practice and their use could reduce the number of unnecessary invasive procedures by 30%.

Implementación de la terapia láser endoscópica para las complicaciones de gestaciones gemelares monocoriales / Implementation of endoscopic laser therapy in complicated monochorionic twin pregnancies

Objetivo: Evaluar los resultados obtenidos en el tratamiento de gestaciones monocoriales biamnióticas complicadas con síndrome de transfusión feto-fetal (STFF) grave o crecimiento intrauterino retardado (CIR) selectivo mediante la fotocoagulación láser de las anastomosis vasculares placentarias. Material y métodos: Se realizó esa terapia en 22 gestaciones, 17 por STFF severo y 5 por CIR selectivo. Se analizan la gravedad de los casos antes de la cirugía, las complicaciones obstétricas y la supervivencia fetal. Resultados: Hubo 17 casos de STFF grave; en 15 (88%) de ellos sobrevivió al menos uno de los gemelos. En los 5 casos por CIR selectivo, el feto con crecimiento normal vivió en 3 casos, incluido uno donde el feto con CIR también vivió. Conclusiones: Los resultados muestran la implementación exitosa de la cirugía láser endoscópica en una de las unidades de referencia de medicina fetal de España tras un entrenamiento apropiado del operador (AU)

Objective: To evaluate the outcomes of monochorionic diamniotic (MCDA) twin pregnancies with severe twin-to-twin transfusion syndrome (TTTS) or selective fetal growth restriction (FGR) treated by endoscopic laser separation of placental vessels in our unit. Material and methods: Fetoscopic laser therapy was performed in 22 MCDA pregnancies, including 17 for severe TTTS, and five for selective FGR. Presurgical severity, obstetric complications, and fetal survival were analyzed. Results: In 15 of the 17 (88%) cases of severe TTTS, at least one twin survived. In the five cases of selective FGR, the fetus with normal growth survived in three cases, including one in which the growth restricted fetus also survived. Conclusions: The results demonstrate the successful implementation of endoscopic laser surgery in a fetal medicine center in Spain after appropriate training of the operator (AU)