Ultrassonografia tridimensional na prática obstétrica: mito ou realidade?

Guastalla Civil Hospital Maternal-Fetal Medicine Unit Department of Obstetrics and GynecologyUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de ObstetríciaUNIFESP, EPM, Depto. de ObstetríciaSciEL

Array comparative genomic hybridization (a-CGH): estado-da-arte e perspectiva

Guastalla Civil Hospital Department of Obstetrics and GynecologyUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de ObstetríciaUNIFESP, EPM, Depto. de ObstetríciaSciEL

First trimester diagnosis of iniencephaly associated with fetal malformations and trisomy 18: Report of a new case and gene analysis on folate metabolism in parents

ABSTRACT  Iniencephaly is a rare congenital malformation consisting of a complex alteration of the embryonic development occurring around the third post‐fertilization week and characterized by a hyper‐retroflexion of the cephalic pole. We report a case of iniencephaly associated with acrania‐encephalocele, spina bifida and abnormal ductus venosus in a fetus with trisomy 18 diagnosed at 12 week's gestation in a 41‐year‐old woman. A co‐occurrence between aneuploidy and iniencephaly was documented and polymorphisms on folate metabolism‐related genes were investigated in the parents to assess possible etiologic factors and recurrence risk for neural tube defects (NTD). An homozygous state for the MTRR polymorphism was diagnosed in the mother, identifying a clinical risk for NTD. Once iniencephaly or any other NTD are suspected, genetic analysis, second level ultrasound and fetal karyotype are recommended. Autopsy should also be performed in all cases of early ultrasound‐based diagnosis of fetal malformations

Placental and Umbilical Cord Anomalies Diagnosed by Two- and Three-Dimensional Ultrasound

The aim of this review is to present a wide spectrum of placental and umbilical cord pathologies affecting the pregnancy. Placental and umbilical cord anomalies are highly associated with high-risk pregnancies and may jeopardize fetal well-being in utero as well as causing a predisposition towards poor perinatal outcome with increased fetal and neonatal mortality and morbidity. The permanent, computerized perinatology databases of different international centers have been searched and investigated to fulfil the aim of this manuscript. An extended gallery of prenatal imaging with autopsy correlation in specific cases will help to provide readers with a useful iconographic tool and will assist with the understanding and definition of this critical obstetrical and perinatological issue

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration

Abstract Objective Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. Materials and Methods We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. Results Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed. Conclusion Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders

Ectopia cordis: prenatal diagnosis, perinatal outcomes, and postnatal follow-up of an international multicenter cohort case series

Objective: This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). Methods: This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients. Results: Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion. Conclusions: Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature

Il test multiplo della translucenza nucale, free "beta"-hCG e PAPP-A nello screening delle aneuploidie fetali del 1. trimestre

Dottorato di ricerca in scienze ostetriche e ginecologiche. 10. ciclo. A.a. 1999-2000. Coordinatore A. MerialdiConsiglio Nazionale delle Ricerche - Biblioteca Centrale - P.le Aldo Moro, 7, Rome; Biblioteca Nazionale Centrale - P.za Cavalleggeri, 1, Florence / CNR - Consiglio Nazionale delle RichercheSIGLEITItal