[Split hand-foot: sonographic detection at 12 weeks]. / Ectrodactilia: detección ecográfica a las 12 semanas.

Split hand-foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. Inour case, it was detected early by ultrasound in the twelfth week of gestation. The sonographic findings were bilateral split hands and feet. No other alterations were observed in the rest of the systematic assessment of the foetal anatomy. The pathological findings were consistent with the sonographic diagnosis. Prenatal diagnosis by corionic villus sampling was performed and voluntary termination of gestation decided.

Prenatal diagnosis of umbilical cord cyst: Clinical significance and prognosis.

OBJECTIVE: Clarify the prognosis of the prenatal ultrasound diagnosis of umbilical cord cysts at any gestation trimester and to assess the ultrasound findings and chromosomal alterations associated to this entity. MATERIALS AND METHODS: Between 2003 and 2015 a multicenter study was carried out, collecting, in five centers in Spain, the associated findings and perinatal outcomes of 27 cases of umbilical cord cysts, regardless of gestational age of diagnosis. A bibliographic review was conducted to identify previous studies in order to compare them with our data. RESULTS: In our sample, the prognosis of this finding and the neonatal outcome, when isolated, is favorable, regardless of gestational age at diagnosis, multiple or unique presentation or vanishing or persistent cysts. CONCLUSIONS: It is important to properly assess the umbilical cord cyst and when is diagnosed, it is recommended to conduct a meticulous ultrasound examination searching for other associated malformations. In our study the prognosis of this finding seems to be favorable when isolated. Also, there is no relation between prognosis and gestation weeks at diagnosis. On the other hand, when we find this entity with associated anomalies, it is recommended to assess the need to carry out a karyotype.

Síndrome de Ballantyne: segundo episodio en una embarazada. Reporte de caso y revisión de la bibliografía / Ballantyne syndrome: Second episode in a pregnant woman. Case report and literature review

Resumen ANTECEDENTES: El síndrome de Ballantyne es un cuadro poco frecuente asociado con hidrops fetal, en el que la madre refleja los síntomas fetales. Es decisivo diferenciarlo de la preeclampsia porque comparten signos de hipertensión y proteinuria. Su etiopatogenia se desconoce pero se han propuesto teorías asociadas con el desequilibrio entre factores angiogénicos y antiangiogénicos. CASO CLÍNICO: Paciente de 29 años, controlada en la consulta de Medicina Materno-Fetal debido al antecedente de síndrome de Ballantyne en el embarazo previo. En la ecografía de control a las 26 semanas se detectaron placentomegalia, ascitis fetal e incremento del líquido amniótico. Las ecografías posteriores demostraron polihidramnios e hidrops a las 28 semanas. Enseguida de la aparición del edema se estableció el diagnóstico de síndrome del espejo recidivante e hidrops no inmunitario. Se hospitalizó para drenaje del líquido. La amniorrexis se produjo a las 29 + 6 semanas. Una semana después se inició la dinámica uterina y el embarazo finalizó a las 31 semanas, después de la ruptura prematura de membranas. El neonato fue un varón de 3200 g, Apgar 2-6-8 al minuto, 5 y 10 minutos, respectivamente. Después del estudio postnatal se estableció el diagnóstico de perforación ileal múltiple. El recién nacido requirió 5 intervenciones quirúrgicas, con posoperatorio tórpido y se dio de alta a los 3 meses de vida. CONCLUSIONES: El síndrome del espejo es infradiagnosticado, a pesar de su potencial para complicar gravemente el embarazo asociado con hidrops. La recuperación de la madre suele ser favorable a los pocos días de posparto aunque la morbilidad y la mortalidad fetal son elevadas.

Abstract BACKGROUND: Ballantyne syndrome is characterized by the triad: fetal, placental and maternal edema. It is an uncommon condition associated with fetal hydrops, in which mother reflects fetal symptoms. It is essential to differentiate from preeclampsia, since there are common signs such as hypertension and proteinuria. Etiopathogenesis is unknown, although theories associated with an imbalance between angiogenic and antiangiogenic factors have been postulated. Treatment consists of ending the pregnancy or improving the fetal situation. CLINICAL CASE: We present the case of a 29-years pregnant woman controlled in the Maternal-Fetal Medicine Unit due to the history of Ballantyne Syndrome in the previous gestation. In the follow-up ultrasound performed at 26-weeks, placentomegaly, fetal ascites and increased amniotic fluid were detected. Subsequent ultrasounds showed polyhydramnios and fetal hydrops at 28-weeks. After maternal edema began, she was diagnosed with recurrent Mirror Syndrome and non-immune hydrops. Admission was indicated and amniodrainage was performed due to symptomatic polyhydramnios. Finally, premature rupture of membranes occurred at 29+6-weeks. She started uterine dynamic after one week, ending in a preterm delivery at 31-weeks after premature rupture of membranes. A 3200gr male was born with Apgar Scores 2-6-8 at 1, 5 and 10min respectively and, after postnatal study, he was diagnosed with multiple ileal perforation. Five surgical interventions were necessary, with a complicated postoperative period and could be discharged at 3 months of age. CONCLUSIONS: Mirror syndrome is an underdiagnosed pathology of unknown incidence that can seriously complicate gestation associated with fetal hydrops. Maternal recovery is favorable few days after delivery, but it leads to high fetal morbi-mortality.