Prenatal Diagnosis of Umbilical Cord Angiomyxoma: Case Studies and Literature Review of 45 Cases.

We describe two cases of umbilical cord (UC) angiomyxoma diagnosed prenatally by sonography in the second trimester of pregnancy. In both cases, a complex mass was detected at the placental insertion site, characterized by an echoic nodule surrounding the umbilical vessels and distal edematous Wharton's jelly. Follow-up scans showed that the mass grew mainly at the expense of its edematous component, with normal uteroplacental Dopplers throughout the remaining of the pregnancy. However, late-onset fetal growth restriction complicated the progress of pregnancy, requiring delivery by Cesarean section at 37 weeks' gestation in both cases. Neonatal courses were unremarkable. An extensive review of the English literature was also performed, collecting 45 similar cases including ours. Our experience as well as the review of the literature confirms that UC angiomyxoma is an uncommon, sporadic condition that is usually detected incidentally during prenatal sonography and presents as an isolated finding. Nevertheless, it represents a high-risk condition for pregnancy complications including prematurity, fetal growth restriction, and fetal demise.

Fetal "Phrygian Cap" Gallbladder: Malformation or Deformation?

A series of five fetuses with a Phrygian cap gallbladder, a condition infrequently reported in the antenatal period, is reported. In all cases, examination of the fetal gallbladder displayed the characteristic folding of the fundus over the body. No associated findings were detected. The gallbladder length was longer than normal in all cases, suggesting that this anomaly could represent a deformity rather than a primary malformation. This might be caused by excessive longitudinal growth of the gallbladder, eventually folding after the fundus reaches the anterior border of the liver and is then diverted laterally by the abdominal wall.

Neuroimaging Findings in Fetal Hemimegalencephaly: Case Study and Review.

BACKGROUND: Limited information exists in the prenatal literature regarding the neuroimaging features of fetal hemimegalencephaly. SUMMARY: This report describes ultrasound and magnetic resonance imaging (MRI) findings in a second-trimester fetus with an isolated, severe form of hemimegalencephaly. The most prominent imaging findings included unilateral enlarged cerebral hemisphere and ipsilateral ventriculomegaly causing cerebral asymmetry, midline shift, and macrocephaly. Abnormal cortical development imaging signs were also evident. A literature review encompassing 23 reports describing 36 cases, including ours, is presented. KEY MESSAGES: Characteristic ultrasound findings for the diagnosis of hemimegalencephaly are not always apparent prenatally. Asymmetric ventriculomegaly emerges as the most common but nonspecific presenting feature during routine second- or third-trimester ultrasound scans. Subsequent high-resolution prenatal neurosonography and fetal MRI facilitate definitive prenatal diagnosis, showcasting associated features primarily related to cortical migration, differentiation, and maturation. Postnatally, the prognosis is poor due to intractable seizures, hemiplegia, and progressive neurodevelopmental delay.

Role of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review.

INTRODUCTION: The detection of absent septi pellucidi (ASP) during obstetric ultrasound is a rare event. However, the clinical implications of this finding are significant. ASP can be associated with severe central nervous system anomalies such as holoprosencephaly, agenesis/dysgenesis of the corpus callosum, schizencephaly, severe ventriculomegaly, and open neural tube defects. In such cases, the prognosis is poor. When no such anomalies are identified, isolated ASP usually carries a good prognosis. However, some fetuses thought to have isolated ASP actually have septo-optic dysplasia (SOD), which is associated with optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and developmental delay. CASE PRESENTATION: A case in which fetal 3.0 Tesla magnetic resonance imaging (MRI) was considered crucial to definitively diagnose isolated ASP is presented. A review of the literature was conducted and analyzed to determine the role of MRI in the evaluation of fetuses with ASP, with special consideration on the differential diagnosis between isolated ASP and SOD. CONCLUSION: Differentiating isolated ASP from SOD is imperative for adequate prenatal counseling. Unfortunately, making a prenatal diagnosis of SOD requires visualization and evaluation of the fetal optic nerves, chiasm, and pituitary gland, which is very demanding and not always possible using ultrasound. Fetal MRI has the potential of obtaining high-quality images of the fetal brain, and therefore this technique can be used for establishing the differential diagnosis in utero.

¿Podría contribuir la resonancia magnética a detectar la ventriculomegalia fetal aislada aparte de otras anormalidades?

Objetivo. Determinar el papel de la resonancia magnética (RM) cerebral en fetos que presentan ventriculomegalia aislada (VMA) en la evaluación ecográfica del cerebro fetal. Métodos. Se evaluaron retrospectivamente los hallazgos por ecografía y RM de 197 fetos diagnosticados con VMA entre noviembre de 2018 y noviembre de 2020. Se excluyeron los fetos con cariotipos anormales, anomalías adicionales o etiologías relacionadas a ventriculomegalia. Se comparó los resultados de ecografía y RM tanto en términos de medidas ventriculares medias como de grado de VMA. Resultados. Las mediciones de la RM fueron significativamente mayores en la VMA leve (10,33±0,38 mm frente a 11,11±0,51 mm, p<0,001) en comparación con la ecografía. En la VMA leve, la RM midió los ventrículos más anchos que la ecografía, con una diferencia media de 0,78 mm. No hubo diferencias significativas en las mediciones por ecografía y RM en cuanto a los valores medios de la VMA moderada y grave. Hubo buena concordancia entre la ecografía y la RM en la detección de la gravedad de la VMA derecha, izquierda y la media (Κ=0,265, Κ=0,324 y Κ=0,261, respectivamente). Los análisis de regresión lineal revelaron una relación estadísticamente significativa entre las mediciones de ecografía y RM de la VMA derecha, izquierda y la media (p<0,001, p<0,001 y p<0,001, respectivamente). La RM mostró una concordancia perfecta con la ecografía en detectar la lateralidad de la VMA (Κ=1,0, p<0,001). Conclusiones. En fetos con VMA leve detectada por ecografía se debe considerar la evaluación por RM del cerebro fetal para un diagnóstico preciso. Este enfoque puede proporcionar una estrategia eficaz en el manejo prenatal y el asesoramiento de estos embarazos.

Objective: To assess the role of brain magnetic resonance imaging (MRI) in fetuses presenting with isolated ventriculomegaly (IVM) in the ultrasound (US) evaluation of the fetal brain. Methods: US and MRI findings of 197 fetuses diagnosed with IVM between November 2018 and November 2020 were retrospectively evaluated. Fetuses with abnormal karyotypes, additional anomalies, or known etiologies for ventriculomegaly were excluded. US and MRI findings were compared both in terms of mean ventricular measurements and IVM grade. Results: MRI measurements were significantly higher in mild IMV (10.33 ± 0.38 mm vs. 11.11 ± 0.51 mm, p< 0.001) compared to US. In mild IVM, MRI measured ventricles larger than US with a mean difference of 0.78 mm. There was no significant difference in US and MRI measurements in terms of mean values in moderate and severe IVM. There was good agreement between US and MRI in detecting right, left and mean IVM severity (Κ=0.265, Κ=0.324, and Κ=0.261, respectively). Linear regression analyses revealed a statistically significant relationship between US and MRI measurements of the right, left, and mean IVM (p<0.001, p<0.001, and p<0.001, respectively). MRI showed perfect agreement with US in detecting IVM laterality (Κ=1.0, p<0.001). Conclusions: In fetuses with mild IVM detected by US, fetal brain MRI evaluation should be considered for accurate diagnosis. This approach may provide effective strategies in the antenatal management and counseling of these pregnancies.

Transient fetal intrathoracic cyst first detected during the 11- to 13-week scan: A resolving pericardial cyst?

Introduction: The prenatal detection of an intrathoracic cyst during the first trimester of pregnancy is an exceedingly rare condition. In this report, we describe a case of first-trimester intrathoracic cyst causing cardiac dextroposition, which resolved by 24 weeks' gestation. Case report: A 5-mm intrathoracic cyst causing cardiac dextroposition was detected during the routine sonographic scan performed at 12 weeks + 2 days. The cyst remained stable in size until 20 weeks and was no longer identified during focused fetal echocardiography at 24 weeks. Discussion: Our case demonstrates that a first-trimester intrathoracic cyst can have a benign course, either by remaining stable in size or even undergoing complete resolution during the second trimester. A focused sonographic examination should therefore be undertaken as follow-up to determine the final prognosis of these lesions. Conclusion: The etiology of intrathoracic cysts detected in the first trimester is unclear and could represent a resolving pericardial cyst.

Umbilical artery pulsatility index and half-peak systolic velocity in second- and third-trimester fetuses with trisomy 18 and 13.

OBJECTIVES: To analyze umbilical artery (UA) Doppler velocimetry and its possible role in placenta-mediated fetal growth restriction (FGR) in second- and third-trimester fetuses with trisomy 18 and 13. METHODS: UA pulsatility index (PI) and half-peak systolic velocity deceleration time (hPSV-DT) were measured in fetuses with trisomy 18 and 13. Correlation with gestational age, birthweight, and perinatal outcome was analyzed. RESULTS: A total of 80 measurements were taken from 33 fetuses with trisomy 18 and 19 with trisomy 13. Overall, there was a high prevalence of abnormal UA Doppler velocimetry. In fetuses with trisomy 18, 54% (27/50) of the UA PI values and 58% (29/50) of the UA hPSV-DT values were abnormal. In fetuses with trisomy 13, 80% (24/30) of the UA PI values and 87% (26/30) of the UA hPSV-DT values were abnormal. The prevalence of abnormal UA Doppler velocimetry increased with gestational age in both types of aneuploidy. However, this trend was only significant for trisomy 13 (p<0.05). All fetuses with trisomy 18 and 86% of fetuses with trisomy 13 were classified at birth as FGR. There were no perinatal survivors in this series. CONCLUSIONS: A high prevalence of abnormal UA Doppler velocimetry was found in second- and third-trimester fetuses with trisomy 18 and 13, which further increased with gestational age. These results may well correlate with alterations described previously in the placenta, suggesting placental insufficiency has an important role in the development of FGR in these autosomal aneuploid fetuses.

Fetal Genotype-Phenotype Sex Discordance: A Case of 5-Alpha-Reductase Deficiency.

OBJECTIVE: To describe the prenatal and postnatal diagnostic workup leading to the diagnosis of 5-alpha-reductase type 2 deficiency (5AR2D) in a case of 46,XY disorder of sex development (DSD). CASE REPORT: A first-trimester noninvasive prenatal test (NIPT) on maternal blood revealed a male fetus with a low risk of aneuploidy. However, a female fetus was identified at the second-trimester scan. A repeat sample revealed similar results and ruled out the possibility of both a sample swap or a vanishing twin. At birth, phenotypically female external genitalia were evident, with testes noted in the labioscrotal area. Neonatal blood confirmed a 46,XY complement and a 46,XY DSD genetic panel revealed a 5AR2D. CONCLUSION: Our case and others described in the literature demonstrate that fetal sex discordance detected by a combination of NIPT and subsequent ultrasound examination can be associated with several biological conditions, with DSD being the most significant.

Prenatal Diagnosis of Fetal Lymphangioma: A Case Series.

Fetal lymphangioma is an uncommon congenital malformation that is mainly comprised of the subcutaneous tissue of the neck. This malformation can develop in other areas like the thoracic and axillary regions, though rarely. We report 6 consecutive cases of lymphatic malformation in a fetal center in Dominican Republic. In our case series fetal chest lymphangiomas were present in 2 fetuses. In addition, 2 cases of axillary lymphangiomas also involved the thoracic region. Adequate management by a multidiciplinary team is necessary to provide a better approach to delivery.

Congenital hepatic cyst: Prenatal and postnatal imaging findings.

INTRODUCTION: Congenital hepatic cyst is a rare hepatobiliary malformation that can present as an asymptomatic, unilocular, upper abdominal cystic mass in the fetus. CASES: We report two cases of congenital hepatic cyst in which the diagnosis was made by prenatal ultrasound at 25 and 33 weeks' gestation. The diagnosis was confirmed postnatally by abdominal ultrasound and radiologic imaging studies. Although the infants remained asymptomatic, laparoscopic excision was performed due to the increasing size of the cyst in both cases. Pathological examination of the resected specimens confirmed a simple cyst in one case and an epidermoid cyst in the other. CONCLUSIONS: Our cases and those described in the literature demonstrate the usefulness of incidental prenatal detection of congenital hepatic cyst, especially during late pregnancy. Such a diagnosis can allow for proper perinatal surveillance, selection of the route of delivery, and timely postnatal surgical intervention if required.

Ultrasound Core Laboratory for the Household Air Pollution Intervention Network Trial: Standardized Training and Image Management for Field Studies Using Portable Ultrasound in Fetal, Lung, and Vascular Evaluations.

Ultrasound Core Laboratories (UCL) are used in multicenter trials to assess imaging biomarkers to define robust phenotypes, to reduce imaging variability and to allow blinded independent review with the purpose of optimizing endpoint measurement precision. The Household Air Pollution Intervention Network, a multicountry randomized controlled trial (Guatemala, Peru, India and Rwanda), evaluates the effects of reducing household air pollution on health outcomes. Field studies using portable ultrasound evaluate fetal, lung and vascular imaging endpoints. The objective of this report is to describe administrative methods and training of a centralized clinical research UCL. A comprehensive administrative protocol and training curriculum included standard operating procedures, didactics, practical scanning and written/practical assessments of general ultrasound principles and specific imaging protocols. After initial online training, 18 sonographers (three or four per country and five from the UCL) participated in a 2 wk on-site training program. Written and practical testing evaluated ultrasound topic knowledge and scanning skills, and surveys evaluated the overall course. The UCL developed comprehensive standard operating procedures for image acquisition with a portable ultrasound system, digital image upload to cloud-based storage, off-line analysis and quality control. Pre- and post-training tests showed significant improvements (fetal ultrasound: 71% ± 13% vs. 93% ± 7%, p < 0.0001; vascular lung ultrasound: 60% ± 8% vs. 84% ± 10%, p < 0.0001). Qualitative and quantitative feedback showed high satisfaction with training (mean, 4.9 ± 0.1; scale: 1 = worst, 5 = best). The UCL oversees all stages: training, standardization, performance monitoring, image quality control and consistency of measurements. Sonographers who failed to meet minimum allowable performance were identified for retraining. In conclusion, a UCL was established to ensure accurate and reproducible ultrasound measurements in clinical research. Standardized operating procedures and training are aimed at reducing variability and enhancing measurement precision from study sites, representing a model for use of portable digital ultrasound for multicenter field studies.

Giant hepatic hemangioma in the fetus: case reports and updated review of the literature.

OBJECTIVES: To describe three cases of giant fetal hepatic hemangioma detected by prenatal ultrasound in the third trimester of pregnancy and further confirmed by fetal magnetic resonance imaging (MRI). An updated review of the literature was also carried out. RESULTS: In one case, there was an unexpected intrauterine demise at 35 weeks. The other two women delivered liveborn infants at term. The first of these two neonates had a stormy neonatal course and underwent endovascular embolization with limited clinical success. The infant presented multiple medical complications and was discharged home at five months of age. The second infant had an uneventful postnatal course. Subsequent follow-up scans showed progressive shrinkage of the lesion with no associated complications. A review of the English literature revealed a total of 42 cases prenatally diagnosed by ultrasound. The most relevant clinical and ultrasound findings are presented and the diverse perinatal outcomes related to this condition are discussed. CONCLUSIONS: Fetal hepatic hemangiomas are exceedingly rare vascular tumors; however, they can be associated with several life-threatening conditions. They are usually detected by ultrasound, either incidentally or in the context of nonimmune hydrops secondary to high-output cardiac failure. Our review documents the increasing role of fetal MRI in the prenatal diagnosis and management of these cases. However, the improvement in prenatal diagnostic imaging techniques has not been associated with a better perinatal prognosis in the reported cases.

Umbilical artery pulsatility index and half-peak systolic velocity deceleration time in fetuses with trisomy 21.

Objective: To analyze placental vascular resistance and the role of placental insufficiency in the etiology of reduced fetal growth in fetuses with trisomy 21 as determined by umbilical artery (UA) Doppler velocimetry.Methods: Second- and third-trimester UA Doppler ultrasound studies were performed in fetuses with trisomy 21 at the time of clinically indicated obstetric ultrasound assessment. The UA pulsatility index (PI) and half-peak systolic velocity deceleration time (hPSV-DT) were measured and recorded. Perinatal outcome was reviewed and the results from UA Doppler velocimetry were compared with birthweight according to gestational age at the time of the delivery.Results: A total of 60 fetuses with trisomy 21 were studied and information from 147 UA Doppler studies was analyzed. Overall, at least one of the UA PI and hPSV-DT values was abnormal in 82% (n = 49) and 90% (n = 54) of the cases, respectively. The incidence of abnormal UA PI values increased with gestational age from 39% (7/18) before 21 weeks to 78% (18/23) after 35 weeks (p < .05). The increase was even more evident for UA hPSV-DT values from 28% (5/18) before 20 weeks to 91% (21/23) after 35 weeks (p < .01). After exclusion of four fetuses with hydrops or isolated hydrothorax/ascites, 16 (29%) were classified at birth as small for gestational age (SGA), 34 (61%) as adequate for gestational age, and six (11%) as large for gestational age, with a mean birthweight z-score of -0.36. When only considering the last Doppler ultrasound assessment prior to delivery, UA PI and hPSV-DT values were abnormal in 73% (41/56, mean z-score = +1.72) and 82% (46/56; mean z-score = -2.18) of the cases, respectively. Mean gestational age at delivery and birth weight were significantly lower in the group with abnormal compared to normal UA PI and hPSV-DT values. Similarly, the incidence of SGA fetuses was significantly higher in the group with abnormal compared to normal UA PI and hPSV-DT values, with 94 (n = 15) and 100% of the 16 SGA newborn infants having abnormal UA PI and hPSV-DT values prior to delivery, respectively.Conclusions: Trisomy 21 fetuses have a progressively higher incidence of abnormal UA impedance indices throughout pregnancy, which suggests developing placental vascular resistance as the pregnancy progresses. This alteration likely begins around the mid second trimester and increases with gestational age; however, increasing placental vascular resistance seems to produce a discrete decrease in fetal growth, despite severe alteration of the UA Doppler impedance indices. As a general hypothesis, we postulate that trisomy 21 fetuses have increasing placental vascular resistance but there may be some factors that protect these fetuses from severe fetal growth restriction.

Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis.

Introduction: Fetuses with trisomy 18 will occasionally also have ectopia cordis. Case report: A routine ultrasound scan at 12 weeks' gestation revealed a large fetal anterior thoraco-abdominal wall defect with an extrathoracic heart and a liver-containing omphalocele. Chorionic villus sampling revealed a 47,XY,+18 karyotype. Additional anomalies detected after termination of the pregnancy included a cleft lip and palate and left radial agenesis. Conclusions: The prenatal diagnosis of ectopia cordis associated with aneuploidy can be made in the first trimester of pregnancy. An extrathoracic heart located in a liver-containing omphalocoele should be considered a thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell.

Splenic cyst as a rare cause of fetal abdominal cystic mass: A multicenter series of nine cases and review of the literature.

INTRODUCTION: Congenital splenic cysts are a rare cause of abdominal cystic masses in the fetus. We describe nine cases of this condition, the largest reported experience to date. A review of the literature for similar cases was also performed. METHODS: Cases of congenital splenic cyst were collected from three prenatal diagnostic centers and from a dedicated website of prenatal diagnosis. Information regarding clinical and sonographic findings was obtained by reviewing ultrasound reports and medical records. An electronic search of the Pubmed/MEDLINE database for similar cases, with subsequent manual cross-referencing, was performed and the relevant information from the articles was retrieved. RESULTS: A total of nine cases were added to the currently existing literature of 32 cases. In all but one of our cases, the prenatal detection of the splenic cyst was made in the third trimester, with a median gestational age at diagnosis of 30 weeks (range 22-37). The splenic cyst was confirmed after delivery in all but one case, which was lost to follow up. Postnatal sonographic examinations performed in the remaining eight cases showed that the cyst increased in size in two (25%), was stable in size in one (12%), decreased in size in one (12%), and completely regressed in the other four cases (50%). No complications associated with the cysts were reported in the infants. CONCLUSIONS: Congenital splenic cyst appears to be a benign condition with no known risk of perinatal complications. Nevertheless, differential diagnosis with other fetal cystic masses of the left upper abdominal quadrant and postnatal sonographic follow up to monitor the size of the cyst are important issues to be considered in the perinatal management of these cases.

New Insights into the Natural History of Congenital Zika Virus Syndrome.

We describe the prenatal evolution of the brain findings in a patient with proved Zika virus infection at 8 weeks of gestation showing the very early appearance at 17 weeks of ventriculomegaly and signs of brain parenchymal involvement without microcephaly. The involvement of the brain becomes more evident at 22 and 27 weeks with the apparition of calcifications and microcephaly. Interestingly, the postnatal findings failed to show significant worsening when compared to these prenatal findings.

Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery.

Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign). In cases with positive findings, evaluation must include a focused examination of the spine for defects. In cases of closed SB and SB occulta, the cranial and posterior fossa features will not be present as they are not associated with leaking of spinal fluid and resultant hindbrain herniation, highlighting the fact that the spine should be examined thoroughly whenever possible during the second-trimester scan. In tertiary fetal medicine centers, two-dimensional and three-dimensional ultrasound allows an accurate determination of the location, type, extent, and upper level of the spinal defect as well as the presence of associated anomalies. Fetal magnetic resonance imaging should be restricted to candidates for intrauterine surgery as part of the preoperative protocol.

Associations of maternal personal exposure to air pollution on fetal weight and fetoplacental Doppler: A prospective cohort study.

We determined the influence of maternal air pollution exposure during each trimester of pregnancy on fetal and birth weight and fetoplacental hemodynamics. In total, 366 women with singleton pregnancies were prospectively followed in the city of São Paulo, Brazil. Nitrogen dioxide (NO2) and ozone (O3) were measured during each trimester using passive personal samplers. We evaluated fetal weight and Doppler velocimetry data from the umbilical, middle cerebral, and uterine arteries in the 3rd trimester, and birth weight. Multivariate analysis was performed, controlling for known determinants of fetal weight. Exposure to higher levels of O3 during the 2nd trimester was associated with higher umbilical artery pulsatility indices (PIs) [p=0.013; beta=0.017: standard error (SE)=0.007]. Exposure to higher levels of O3 during the 3rd trimester was associated with lower umbilical artery PIs (p=0.011; beta=-0.021; SE=0.008). Our results suggest that in the environment of São Paulo, O3 may affects placental vascular resistance.

Infección por Virus Zika en el embarazo / Virus Zika infection in pregnancy

La infección viral por Zika se ha diseminado desde fechas recientes en las Américas. Venezuela no ha escapado a la emergente enfermedad, y al ser una población rica en población de mosquitos Aedes Aepypti y sin memoria inmunológica al virus nos hace muy susceptibles a tener una amplia distribución de la infección en muy corto tiempo, similar a lo ocurrido con otras enfermedades transmitidas por mosquitos como el Dengue y el Chikungunya. Las mujeres embarazadas tienen un potencial de infección y de transmisión materno fetal mucho mayor por los cambios fisiológicos en sus sistemas inmunológicos, y la transmisión vertical del virus implica un riesgo para que el feto tenga compromiso en su anatomía en diferentes regiones, principalmente afectando el SNC. En este trabajo se describe la problemática, métodos de diagnóstico materno y fetal de las complicaciones y resumen de protocolos sugeridos por instituciones de salud mundiales, orientadas a médicos, obstetras y otros prestadores de salud, actualizados hasta marzo del 2016. Al ser una enfermedad de aparición nueva, las publicaciones existentes a la fecha son también muy recientes, sin estudios científicos concluyentes en cuanto al verdadero riesgo que implica la infección para la embarazada, su progenie y para la población en general.

Zika virus infection has spread in the Americas in the recent years. Venezuela has not escaped this emerging disease, and as we own a rich population of Aedes mosquitoes and also people without immunological memory to the virus makes us very susceptible to a wide distribution of the infection in a very short time, similar to what happened with other diseases spread by mosquitoes such as Dengue and Chikungunya. Pregnant women have an increased potential for infection and its transmission to their offspring due to their physiological changes in the immune system, and the vertical transmission of the virus poses a risk to the fetus, who has a higher chance to be affected mainly in the CNS, as recent publications claim. In this paper we summarize the problem, diagnosis data according to Venezuela and we resume guidelines to physicians in different fields, updated until March 2016. As Zika infection is a new emerging disease, published papers are few and non-conclusive about the true risk it implies to the pregnant women, her offspring and for the general population.

Diagnóstico prenatal y manejo perinatal en enfermedades raras / Prenatal diagnosis and management of rare diseases

El diagnóstico y manejo prenatal de enfermedades raras involucra un estudio multidisciplinario. Desde una visión obstétrica, herramientas de imagenología como la ultrasonografía y en menor medida la resonancia magnética fetal (RMF) son esenciales para el diagnóstico de anomalías morfológicas y sospecha de defectos cromosómicos. Para el diagnóstico de enfermedades cromosómicas el estudio de cariograma obtenido de vellosidades coriales, líquido amniótico o sangre fetal mediante técnicas invasivas tal como biopsia corial, amniocentesis o cordocentesis ha sido hasta hace poco el gold standard del diagnóstico. Nuevas técnicas moleculares capaces de detectar microdeleciones como es el microarray nos ha permitido aproximarnos al origen de las enfermedades raras. Se revisarán además algunos de los defectos anatómicos raros y su enfoque neonatal.

Prenatal diagnosis and management of rare diseases is a multidisciplinary task. From the obstetric vision, prenatal diagnosis is based on fetal images obtained by ultrasound or magnetic resonance and fetal chromosomes study. The study of fetal morphology allows us the diagnosis of fetal abnormalities and the suspicion of chromosomal defects. Fetal chromosomal study is obtained either by chorionic villus sampling, amniocentesis and cordocentesis, all associated to fetal risk. New screening techniques such as fetal DNA on maternal blood or the study of fetal micro deletions using micro Array on amniotic fluid has extended diagnostic opportunity of rare fetal diseases. We will review some of the most common rare diseases and the neonatal approach.