The use of cardiac ultrasound imaging in first-trimester prenatal diagnosis of congenital heart diseases.

This study aims to explore ultrasound (US) cardiac and echocardiographic features that may enable the early diagnosis of various major congenital heart diseases (CHDs). Focusing on providing useful US tools for this assessment, high resolution of US cardiac images of various CHDs, such as hypoplastic left heart syndrome, conotruncal anomalies, and univentricular heart, were evaluated. Results show that early US detection of most major CHDs is feasible during first-trimester ultrasonography cardiac evaluation. Concerns about safety issues, findings on early fetal cardiovascular hemodynamics, and cardiac lesions that can progress during the course of pregnancy were also discussed.

Spontaneous third ventriculostomy in patients undergoing fetal surgery for myelomeningocele correction.

INTRODUCTION: Spontaneous third ventriculostomy (STV) is characterized by the spontaneous rupture of one of the ventricle walls due to increased pressure in the third ventricle caused by obstructive hydrocephalus. Clinically, STV results in resolution of signs and symptoms of intracranial hypertension and head circumference stabilization. No spontaneous STV cases in patients with myelomeningocele have been reported in the literature. The objective of this study was to report three cases of STV in patients with type 2 Chiari malformation who underwent intrauterine treatment. CASE PRESENTATION: All patients presented clinically with increased head circumference during outpatient follow-up. Only one patient required a ventriculoperitoneal shunt implantation. The other patients did not require further intervention. CONCLUSION: STV is a rare entity that is difficult to diagnose and should always be suspected in spontaneous hydrocephalus resolution, especially in early childhood. STV is not synonymous with hydrocephalus resolution.

Congenital Brain Abnormalities and Zika Virus: What the Radiologist Can Expect to See Prenatally and Postnatally.

Purpose To document the imaging findings associated with congenital Zika virus infection as found in the Instituto de Pesquisa in Campina Grande State Paraiba (IPESQ) in northeastern Brazil, where the congenital infection has been particularly severe. Materials and Methods From June 2015 to May 2016, 438 patients were referred to the IPESQ for rash occurring during pregnancy or for suspected fetal central nervous system abnormality. Patients who underwent imaging at IPESQ were included, as well as those with documented Zika virus infection in fluid or tissue (n = 17, confirmed infection cohort) or those with brain findings suspicious for Zika virus infection, with intracranial calcifications (n = 28, presumed infection cohort). Imaging examinations included 12 fetal magnetic resonance (MR) examinations, 42 postnatal brain computed tomographic examinations, and 11 postnatal brain MR examinations. Images were reviewed by four radiologists, with final opinion achieved by means of consensus. Results Brain abnormalities seen in confirmed (n = 17) and presumed (n = 28) congenital Zika virus infections were similar, with ventriculomegaly in 16 of 17 (94%) and 27 of 28 (96%) infections, respectively; abnormalities of the corpus callosum in 16 of 17 (94%) and 22 of 28 (78%) infections, respectively; and cortical migrational abnormalities in 16 of 17 (94%) and 28 of 28 (100%) infections, respectively. Although most fetuses underwent at least one examination that showed head circumference below the 5th percentile, head circumference could be normal in the presence of severe ventriculomegaly (seen in three fetuses). Intracranial calcifications were most commonly seen at the gray matter-white matter junction, in 15 of 17 (88%) and 28 of 28 (100%) confirmed and presumed infections, respectively. The basal ganglia and/or thalamus were also commonly involved with calcifications in 11 of 17 (65%) and 18 of 28 (64%) infections, respectively. The skull frequently had a collapsed appearance with overlapping sutures and redundant skin folds and, occasionally, intracranial herniation of orbital fat and clot in the confluence of sinuses. Conclusion The spectrum of findings associated with congenital Zika virus infection in the IPESQ in northeastern Brazil is illustrated to aid the radiologist in identifying Zika virus infection at imaging. (©) RSNA, 2016 Online supplemental material is available for this article.

Antenatal diagnosis of congenital heart disease by 3D ultrasonography using spatiotemporal image correlation with HDlive Flow and HDlive Flow silhouette rendering modes.

This pictorial review describes the assessment of a great variety of types of congenital heart disease by three-dimensional ultrasonography with spatiotemporal image correlation using HDlive and the HDlive Flow silhouette rendering mode. These technologies provide fetal heart surface patterns by using a fixed virtual light source that propagates into the tissues, permitting a detailed reconstruction of the heart structures. In this scenario, ultrasound operators can freely select a better light source position to enhance the anatomical details of the fetal heart. HDlive and the HDlive Flow silhouette rendering mode improve depth perception and the resolution of anatomic cardiac details and blood vessel walls compared to standard two-dimensional ultrasonography.

Fetal posterior fossa malformations: review of the current knowledge.

Ultrasound diagnosis of posterior fossa malformations in the prenatal period is a challenge, having major implications for the counseling and follow-up of pregnant women. The purpose of this study was to review aspects of the ultrasound evaluation of the fetal posterior fossa, as well as to describe the most relevant ultrasound findings of the main posterior fossa malformations that can affect the fetus in the prenatal period.

Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

IMPORTANCE: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. OBJECTIVE: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil. DESIGN, SETTING, AND PARTICIPANTS: We observed 11 infants with congenital ZIKV infection from gestation to 6 months in the state of Paraíba, Brazil. Ten of 11 women included in this study presented with symptoms of ZIKV infection during the first half of pregnancy, and all 11 had laboratory evidence of the infection in several tissues by serology or polymerase chain reaction. Brain damage was confirmed through intrauterine ultrasonography and was complemented by magnetic resonance imaging. Histopathological analysis was performed on the placenta and brain tissue from infants who died. The ZIKV genome was investigated in several tissues and sequenced for further phylogenetic analysis. MAIN OUTCOMES AND MEASURES: Description of the major lesions caused by ZIKV congenital infection. RESULTS: Of the 11 infants, 7 (63.6%) were female, and the median (SD) maternal age at delivery was 25 (6) years. Three of 11 neonates died, giving a perinatal mortality rate of 27.3%. The median (SD) cephalic perimeter at birth was 31 (3) cm, a value lower than the limit to consider a microcephaly case. In all patients, neurological impairments were identified, including microcephaly, a reduction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia deformation sequence (ie, arthrogryposis). Results of limited testing for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, were negative, and the ZIKV genome was found in both maternal and neonatal tissues (eg, amniotic fluid, cord blood, placenta, and brain). Phylogenetic analyses showed an intrahost virus variation with some polymorphisms in envelope genes associated with different tissues. CONCLUSIONS AND RELEVANCE: Combined findings from clinical, laboratory, imaging, and pathological examinations provided a more complete picture of the severe damage and developmental abnormalities caused by ZIKV infection than has been previously reported. The term congenital Zika syndrome is preferable to refer to these cases, as microcephaly is just one of the clinical signs of this congenital malformation disorder.

Fetal posterior fossa malformations: review of the current knowledge / Malformações da fossa posterior fetal: revisão do conhecimento atual

Abstract Ultrasound diagnosis of posterior fossa malformations in the prenatal period is a challenge, having major implications for the counseling and follow-up of pregnant women. The purpose of this study was to review aspects of the ultrasound evaluation of the fetal posterior fossa, as well as to describe the most relevant ultrasound findings of the main posterior fossa malformations that can affect the fetus in the prenatal period.

Resumo O diagnóstico ultrassonográfico das malformações da fossa posterior no período pré-natal é um desafio, com importantes implicações no aconselhamento e acompanhamento dessas gestações. O objetivo deste estudo é revisar aspectos da avaliação ultrassonográfica da fossa posterior do feto e descrever os principais achados ultrassonográficos das principais malformações da fossa posterior que podem acometer o feto no período pré-natal.

Fetal magnetic resonance imaging and three-dimensional ultrasound in clinical practice: applications in prenatal diagnosis.

Three-dimensional ultrasound and magnetic resonance imaging are powerful imaging techniques that are used increasingly in evaluating fetal anatomy. In this chapter, we review the main applications of these imaging modalities in current practice and present an overview of the malformations that may benefit from assessment with three-dimensional ultrasound and magnetic resonance imaging.

Fetal magnetic resonance imaging and three-dimensional ultrasound in clinical practice: general aspects.

Ultrasonography is used routinely during pregnancy to screen and diagnose fetal anomalies. Two-dimensional ultrasound is usually adequate in women at low risk for malformations. When technical factors limit optimal evaluation or a malformation is suspected, further imaging with three-dimensional ultrasound and magnetic resonance imaging is becoming increasingly common. Three-dimensional ultrasound allows the manipulation of data acquired from two-dimensional ultrasound to recreate an infinite number of views, thereby enhancing the ability to evaluate the fetal anatomy. When three-dimensional ultrasound is either unavailable or inadequate, fetal magnetic resonance imaging permits detailed evaluation of the suspected anomaly and assesses the presence of associated anomalies. In this chapter, we review the techniques, advantages, limitations, and clinical applications of these two fetal imaging modalities.

Avaliação crítica dos benefícios e limitações da ressonância magnética como método complementar no diagnóstico das malformações fetais / A critical review of benefits and limitations of magnetic resonance imaging as a complementary method in the diagnosis of fetal malformations

OBJETIVO: Avaliar, por meio da ressonância magnética, uma série de fetos com diagnóstico ultra-sonográfico de malformação, a fim de estabelecer os benefícios e limites diagnósticos proporcionados pela técnica de ressonância magnética fetal, em comparação com a ultra-sonografia. MATERIAIS E MÉTODOS: Foram estudadas 40 mulheres entre 15-35 semanas de gestação com diagnóstico de anomalia fetal durante o exame de ultra-sonografia. As pacientes foram encaminhadas para o estudo complementar com ressonância magnética. As indicações para o estudo da ressonância magnética fetal foram: anomalias do sistema nervoso central, do tórax, do abdome, renais, esqueléticas e tumores. A avaliação pós-natal incluiu a revisão das imagens de ultra-sonografia e ressonância magnética, o acompanhamento do nascimento, exames laboratoriais, radiológicos e necropsia. RESULTADOS: Os resultados mostraram que os estudos complementares com ressonância magnética fetal trouxeram informações adicionais em 60 por cento dos casos estudados. Os benefícios da ressonância magnética fetal foram: ampliação da avaliação global, aumento do campo de avaliação, maior resolução tecidual pelo uso de seqüências, e avaliação em pacientes obesas e com oligoidrâmnio. Os limites da ressonância magnética fetal foram: evitar exame no primeiro trimestre, avaliação do fluxo sanguíneo, movimentação fetal, claustrofobia materna, estudo do coração fetal e esqueleto. CONCLUSÃO: A ressonância magnética fetal pode ser utilizada como método complementar para a avaliação das malformações fetais.

OBJECTIVE: The present study was aimed at evaluating by means of magnetic resonance imaging a series of fetuses with sonographic diagnosis of malformation, establishing the diagnostic benefits and limitations of fetal magnetic resonance imaging as compared with ultrasonography. MATERIALS AND METHODS: Forty women between 15-35 gestational weeks and previously diagnosed with fetal abnormality by ultrasonography were referred to undergo complementary fetal magnetic resonance imaging, particularly for evaluating abnormalities in the fetal central nervous system, thorax, abdomen, renal system, skeletal system, and tumors. The whole evaluation process included a review of the fetal ultrasonography and magnetic resonance images, postnatal follow-up, laboratory tests, imaging studies and necropsy. RESULTS: The present study has demonstrated that complementary magnetic resonance imaging did provide further information in 60 percent of cases, with the following benefits: improved information on the fetus as a whole, with a large field of view, higher anatomic resolution provided by fast sequences, superior soft tissue contrast resolution, besides the fact that the visualization of the fetus is not significantly affected by maternal obesity or oligohydramnios. Limitations of the method include contraindication in the first gestational trimester and in cases of maternal claustrophobia, sensitivity to fetal motion, low sensitivity for detecting cardiovascular and skeletal malformations. CONCLUSION: Fetal magnetic resonance imaging plays a significant role as a complementary method for the diagnosis of fetal anomalies.

Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities

CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy. The trisomy of chromosome 21 has been most evaluated. OBJECTIVE: To define the best fixed cutoff point for nuchal translucency, with the assistance of the ROC curve, and its accuracy in screening all fetal aneuploidy and trisomy 21 in a South American population. TYPE OF STUDY: Validation of a diagnostic test. SETTING: This study was carried out at the State University of Campinas, Campinas, Brazil. PARTICIPANTS: 230 patients examined by ultrasound at two tertiary-level private centers, at 10 to 14 weeks of gestation. DIAGNOSTIC TEST: The participants consisted of all those patients who had undergone ultrasound imaging at 10 to 14 weeks of gestation to measure nuchal translucency and who had had the fetal or neonatal karyotype identified. MAIN MEASUREMENTS: Maternal age, gestational age, nuchal translucency measurement, fetal or neonatal karyotype. RESULTS: Prevalence of chromosomal defects -- 10 percent; mean age -- 35.8 years; mean gestational age -- 12 weeks and 2 days; nuchal translucency (NT) thickness -- 2.18 mm. The best balance between sensitivity and specificity were values that were equal to or higher than 2.5 mm for overall chromosomal abnormalities as well as for the isolated trisomy 21. The sensitivity for overall chromosomal abnormalities and trisomy 21 were 69.5 percent and 75 percent, respectively, and the positive likelihood ratios were 5.5 and 5.0, respectively. CONCLUSION: The measurement of nuchal translucency was found to be fairly accurate as an ultrasound marker for fetal abnormalities and measurements equal to or higher than 2.5 mm were the best fixed cutoff points

Rotinas atualizadas em medicina fetal. 2 - Estudo genético pré-natal / Fetal medicine guidelines update. II - Prenatal genetic diagnosis

Faz-se breve comentário sobre marcadores nåo-invasivos de alteraçöes cromossomiais do feto. Såo considerados os métodos bioquímicos e os métodos biofísicos para o rastreamento de anomalias citogenéticas, reservadas às pacientes de baixo-risco. Aborda-se também os métodos diagnósticos da doença, por procedimento invasivos, v.g., a biópsia de vilo corial, a amniocentese e a cordoncentese, métodos indicados nas pacientes de alto-risco caracterizada por sua história ou por alteraçöes verificadas nos procedimentos nåo-invasivos

Rotinas atualizadas em medicina fetal. 4 - Doppler colorido / Fetal medicine guidelines update. 4 - color-doppler

Faz-se breve comentário sobre a rotina da utilizaçäo dodoppler-colorido em medicina fetal. Sâo considerads suas principais indicaçöes e interpretaçäo de seus resultados no acompanhmento da gestaçäo de primeiro trimestre, no diagnóstico da prenhez ectópica, no estudo de cordäo umbilical, no rastreamento e seguimento da neoplasia trofoblástica gesrtacional e na avliaçäo do perfil hemodinâmico fetal. Breves consideraçöes adicionais sobre a fisiopatologia do sofrimento fetal crônico säo desenvolvidas