Available evidence on fetal liver changes detected by ultrasound in pregnant women with gestational diabetes mellitus: Systematic review.

The aim of this systematic review was to examine the available scientific literature on ultrasound-detected fetal liver changes in pregnant women with gestational diabetes mellitus (GDM) and to explore the potential of these markers to inform clinical management and improve outcomes. A total of four articles investigating fetal liver changes in GDM pregnancies were selected. The studies varied in methodology, gestational age studied, and diagnostic criteria for GDM. Fetal liver indices, such as fetal liver length and fetal liver volume, emerged as potential markers for identifying GDM and predicting adverse outcomes. Studies suggest an association between fetal liver changes and GDM, with implications for both maternal glycemic control and fetal metabolic adaptation. Variability in study methodology highlights the need for standardized approaches to assess fetal hepatic indices and their correlation with GDM outcomes.

Prenatal Cardiac Ultrasound Markers of Outcomes in Ebstein's Anomaly: An International Multicenter Case Series.

This study aimed to analyze prenatal cardiac ultrasound markers of outcome in fetuses with Ebstein's anomaly (EA). From a retrospective database, 35 fetuses diagnosed with EA at fetal medicine centers in Brazil, Italy, and Poland were retrieved. The primary outcome was perinatal mortality. We analyzed prenatal cardiac ultrasound markers of outcomes and perinatal follow-up. Gestational age at diagnosis, extracardiac fetal anomalies, spontaneous fetal demise, and gestational age at each event were recorded. In postnatal survivors, data on cardiac surgery and short-term postoperative outcomes were collected. Our study included a cohort of 35 fetuses with EA (mean gestational age of 29.4 weeks), in which 6 fetuses were excluded due to termination of pregnancy (3), pregnancy still ongoing (2), and missed follow-up (1). Of the remaining 29 cases, severe tricuspid regurgitation and absence of anterograde pulmonary flow (pulmonary atresia) were observed in 88%. Significant cardiomegaly accounts for 58% of these data with a mean cardiothoracic ratio of 0.59. The cardiovascular profile (CVS) score ≤ 6 in six patients with one survival (4 fetal deaths, one stillbirth, and one survival). All fetuses with CVS score of 5 had intrauterine demise. Seventeen fetuses were born alive (53.1% of 29 cases). Of the remaining fetuses, one (1%) fetal was a stillbirth, six (20%) fetuses were neonatal deaths, and five (17%) fetuses were fetal deaths. Of the nineteen patients who underwent surgery to correct the cardiac defect, 17 survived after surgery. Among the survivors, biventricular cardiac repair was performed using the cone technique (da Silva's approach) in the majority of cases. We observed 2 abnormal karyotypes among in the remaining 29 fetuses. One of the patients with abnormal karyotype was a fetus with ascites and large for gestational age. The other patient with abnormal karyotype underwent cardiac surgery and progressed to neonatal death. Nine patients (25%) had extracardiac anomalies (genitourinary anomalies and single umbilical artery), being that 2 of them are alive and 4 died (2 had fetal and 2 neonatal death). Fetal EA is associated with high mortality. The most common prenatal marker associated with non-survival was CVP score ≤ 6. Fetuses that survived and underwent postnatal corrective surgery are significantly favorable outcomes.

Ultrasound Parameters Can Accurately Predict the Risk of Malignancy in Patients with "Indeterminate TIR3b" Cytology Nodules: A Prospective Study.

The increase in the incidence of thyroid nodules with cytological findings of TIR3b requires the identification of predictive factors of malignancy. We prospectively evaluated 2160 patients from January 2018 to June 2022 and enrolled 103 patients with indeterminate cytology TIR3b nodules who underwent total (73 patients) and hemi-thyroidectomy (30 patients). Among them, 61 had a histological diagnosis of malignancy (30 classic papillary thyroid carcinoma, 19 had follicular papillary thyroid carcinoma variant, 3 had Hurtle cell carcinoma and 9 had follicular thyroid carcinoma), while 42 had a benign histology. Clinical, ultrasonographic and cytological characteristics were recorded. In addition, BRAF mutation was analysed. Patients with a histological diagnosis of malignancy had a higher frequency of nodule diameter ≤11 mm (p = 0.002), hypoechogenicity (p < 0.001), irregular borders (p < 0.001), peri- and intralesional vascular flows (p = 0.004) and microcalcifications (p = 0.001) compared to patients with benign histology. In contrast, patients with benign histology had more frequent nodules with a halo sign (p = 0.012) compared to patients with histological diagnosis of malignancy. No significant differences were found in BRAF mutation between the two groups. Our study suggests that the combination of ultrasonographic and cytological data could be more accurate and reliable than cytology alone in identifying those patients with TIR3b cytology and a histology of malignancy to be referred for thyroidectomy, thus reducing the number of patients undergoing thyroidectomy for benign thyroid disease.

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing.

We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16/17 weeks of gestation. The patient was referred to our center for an invasive prenatal diagnosis. The patient's blood and placenta were sampled for whole-genome sequencing-based NIPT and array comparative genomic hybridization (aCGH), respectively. Both investigations revealed trisomy 2. Further prenatal genetic testing in order to confirm trisomy 2 in amniocytes and/or fetal blood was highly questionable because oligohydramnios and fetal growth retardation made amniocentesis and cordocentesis technically unfeasible. The patient opted to terminate the pregnancy. Pathological examination of the fetus revealed internal hydrocephalus, atrophy of brain structure, and craniofacial dysmorphism. Conventional cytogenetic analysis and fluorescence in situ hybridization revealed chromosome 2 mosaicism with a prevalence of trisomic clone in the placenta (83.2% vs. 16.8%) and a low frequency of trisomy 2, which did not exceed 0.6% in fetal tissues, advocating for low-level true fetal mosaicism. To conclude, in pregnancies at risk of fetal chromosomal abnormalities that refuse invasive prenatal diagnosis, whole-genome sequencing-based NIPT, but not targeted NIPT, should be considered. In prenatal cases of trisomy 2, true mosaicism should be distinguished from placental-confined mosaicism using cytogenetic analysis of amniotic fluid cells or fetal blood cells. However, if material sampling is impossible due to oligohydramnios and/or fetal growth retardation, further decisions should be based on a series of high-resolution fetal ultrasound examinations. Genetic counseling for the risk of uniparental disomy in a fetus is also required.

First-trimester ultrasound diagnostic features of placenta accreta spectrum in low-implantation pregnancy.

OBJECTIVE: Low-implantation pregnancy (LIP) is an important marker for the diagnosis of placenta accreta spectrum (PAS) in the first trimester. Many grayscale and color Doppler ultrasound markers of PAS have been defined in the second and third trimesters of pregnancy, but have not been studied in the first trimester. The aim of this study was to determine whether PAS sonographic markers could be used in the first trimester to differentiate patients with LIP who develop PAS from those who do not. METHODS: This was a retrospective case-control study of women who delivered at our institution between 2009 and 2019. Cases were women with PAS who delivered by Cesarean hysterectomy and who had undergone first-trimester ultrasound demonstrating LIP. Controls were women with persistent placenta previa without PAS who delivered by Cesarean section without postpartum hemorrhage and who had undergone first-trimester ultrasound demonstrating LIP. Sonographic images were reviewed by an investigator blinded to pregnancy outcome and ultrasound reports. Images were reviewed for presence of abnormal uteroplacental interface, increased lower uterine segment hypervascularity and placental lacunae, with or without swirling on grayscale or color Doppler ultrasound. RESULTS: Following review of the electronic health records, 21 cases and 46 controls met the inclusion criteria. Placental lacunae were present in 18/21 (85.7%) cases and 7/46 (15.2%) controls (odds ratio (OR), 33.4; 95% CI, 7.7-144.4; P < 0.001). The number of lacunae was significantly higher in cases compared with controls, with a median of five lacunae present in cases compared with a median of one lacuna in controls (P < 0.001). The median size of the lacunae was also significantly larger in cases compared with controls, measuring 10.03 (interquartile range (IQR), 7.3-12.05) mm and 4.15 (IQR, 4.05-5.05) mm, respectively (P = 0.001). Lacunae swirling on grayscale or color Doppler ultrasound was noted only in PAS cases, with 10/12 (83.3%) having swirling on grayscale ultrasound and 12/12 (100%) having swirling on color Doppler (P < 0.001). Presence of an abnormal uteroplacental interface was also observed only in PAS cases, at a rate of 17/20 (85.0%) (P < 0.001). Lower uterine segment (uterovesical, subplacental and/or intraplacental) hypervascularity was present in 14/14 (100%) cases and only 1/12 (8.3%) controls (P < 0.001). CONCLUSION: In women at risk of PAS, ultrasound markers of PAS can and should be assessed as early as in the first trimester. The use of a first-trimester prenatal ultrasound screening protocol and standardized approach to ultrasound examination in at-risk mothers may help increase detection of PAS and enable planning for optimal management of affected pregnancies. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Outcomes of both complex and isolated cases of infants with large stomach on fetal ultrasound.

BACKGROUND: A sonographically large fetal stomach has been associated with gastrointestinal obstruction, per case reports, and is often followed up with serial ultrasound examinations. The frequency of this phenomenon has not been systematically studied, resulting in challenges in counseling parents about the prognosis and making cost-benefit analysis of serial ultrasound follow-up difficult to assess. OBJECTIVE: This study aimed to determine the frequency at which an enlarged fetal stomach as the sole abnormality on fetal ultrasound reflects a bowel obstruction to aid in parental counseling and determine the best practice for follow-up. STUDY DESIGN: We performed a retrospective cohort study of all prenatal sonographic cases in which a large fetal stomach was visualized between January 1, 2002, and June 1, 2016. The inclusion criteria required a fetal diagnosis of a large stomach, defined as an increased measurement in ≥2 dimensions based on a nomogram, that resulted in a liveborn delivery within the Johns Hopkins Health System. We excluded pregnancy loss, pregnancy termination, and cases delivered outside of the Johns Hopkins Health System. Cases were subclassified as isolated or complex based on the absence or presence of additional ultrasound findings at initial presentation of the enlarged stomach. The perinatal outcomes and maternal demographics were determined and compared between isolated and complex cases. RESULTS: Of 57,346 total cases with ultrasound examinations in the Johns Hopkins Health System within the study time frame, 348 fetuses had enlarged stomachs, with 241 (69.3%) who met the inclusion criteria as follows: 161 (66.8%) isolated and 80 (33.2%) complex. Of the 161 isolated cases, 1 resulted in neonatal small bowel obstruction (0.62%). Of note, 158 of the isolated large stomach cases (98.1%) had no postnatal abnormalities of any kind. Of the 80 complex cases, 18 (22.5%) resulted in neonatal gastrointestinal obstruction (14 cases of duodenal atresia and 4 cases of jejunal atresia). Those with isolated findings were significantly less likely to deliver preterm (n=24 [14.9%] vs n=35 [43.8%]; P<.001), be complicated by polyhydramnios (n=18 [11.2%] vs n=23 [28.8%]; P<.001), have a neonatal intensive care unit admission (n=31 [19.3%] vs n=76 [95.0%]; P<.01), or have a major surgical procedure (n=2 [1.2%] vs n=66 [82.5]; P<.001) compared with complex cases. CONCLUSION: We found that 0.62% of isolated large fetal stomachs (1 of 161) were associated with neonatal intestinal obstruction. Of the complex cases with an enlarged stomach, 18 of 80 (22.5%) were found to have a gastrointestinal obstruction; by definition, none of these complex cases began as an isolated large stomach as their initial ultrasound finding, but rather had other concurrent sonographic abnormalities, including a double bubble sign and intestinal dilation. With a prevalence of <1% resulting in the development of a small bowel obstruction, our results suggest that, when isolated, a large stomach does not seem to warrant serial prenatal ultrasound follow-up or postnatal imaging and is likely to reflect an incidental finding.

First-Trimester Cranial Ultrasound Markers of Open Spina Bifida.

OBJECTIVES: To evaluate cranial ultrasound markers during a first-trimester routine ultrasound examination for screening for open spina bifida (OSB). METHODS: Midsagittal and axial images of the fetal head obtained from fetuses with spina bifida and unaffected control fetuses at 11 weeks to 13 weeks 6 days were analyzed retrospectively. The observed markers of the posterior brain included the 4- versus 3-line view, the brain stem (BS)-to-brain stem-occipital bone (BSOB) distance ratio (BS/BSOB), the position relationship between the maxillo-occipital (MO) line and the midbrain-BS junction, and the crash sign status. RESULTS: This study included 9 OSB cases, 2 closed spina bifida (CSB) cases, and 200 unaffected controls. Eight of 9 OSB cases had informative midsagittal views of the head. The 3-line view (abnormal) and BS/BSOB greater than 1 (abnormal) were observed in 87.5% (7 of 8) and 100% (8 of 8), respectively. The midbrain-BS junction was below or nearly on the MO line (abnormal) in 100% (8 of 8). Seven of the cases had informative axial views of the head. The crash sign (abnormal) was observed in 85.7% (6 of 7). A 3-line view was seen in all of the cases that had a positive crash sign. Neither of the 2 cases of CSB and none of the controls had any of the 4 first-trimester intracranial ultrasound markers of OSB. CONCLUSIONS: The 4 first-trimester intracranial ultrasound markers investigated in this study appear to be very good markers of OSB, especially a BS/BSOB greater than 1 and an abnormal MO line. The crash sign and 3-line view were observed in the same fetus. In our study, these ultrasound findings were not helpful in CSB.

Development of a prenatal clinical care pathway for uncomplicated gastroschisis and literature review.

BACKGROUND: Gastroschisis is an abdominal wall defect wherein the bowel is herniated into the amniotic fluid. Controversy exists regarding optimal prenatal surveillance strategies that predict fetal well-being and help guide timing of delivery. Our objective was to develop a clinical care pathway for prenatal management of uncomplicated gastroschisis at our institution. METHODS: We performed a review of literature from January 1996 to May 2017 to evaluate prenatal ultrasound (US) markers and surveillance strategies that help determine timing of delivery and optimize outcomes in fetal gastroschisis. RESULTS: A total 63 relevant articles were identified. We found that among the US markers, intraabdominal bowel dilatation, polyhydramnios, and gastric dilatation are potentially associated with postnatal complications. Prenatal surveillance strategy with monthly US starting at 28weeks of gestational age (wGA) and twice weekly non-stress testing beginning at 32wGA is recommended to optimize fetal wellbeing. Timing of delivery should be based on obstetric indications and elective preterm delivery prior to 37wGA is not indicated. CONCLUSIONS: Close prenatal surveillance of fetal gastroschisis is necessary due to the high risk for adverse outcomes including intrauterine fetal demise in the third trimester. Decisions regarding the timing of delivery should take into consideration the additional prematurity-associated morbidity.

The role of ultrasound in prediction of intra-operative blood loss in cases of placenta accreta spectrum disorders.

PURPOSE: To assess the value of various grey-scale ultrasound, 2D color Doppler, and 3D power Doppler sonographic markers in predicting major intraoperative blood loss during planned cesarean hysterectomy for cases diagnosed with placenta accreta spectrum (PAS) disorders. METHODS: 50 women diagnosed with PAS were scanned the day before planned delivery and hysterectomy for various sonographic markers indicative of placental invasion. These women were then later divided according to blood loss in two groups: group A (minor hemorrhage, < 2500 ml), and group B (major hemorrhage, > 2500 ml), and the data were analyzed. RESULTS: The odds ratio (OR) for major hemorrhage was as follows for the following sonographic markers: 'number of lacunae > 4' OR 3.8 95% CI (1.0-13.8) (p = 0.047); 'subplacental hypervascularity' OR 10.8 95% CI (1.2-98.0) (p = 0.035); 'tortuous vascularity with 'chaotic branching' OR 10.8 95%CI (1.2-98.0) (p = 0.035); 'numerous coherent vessels involving the serosa-bladder interface OR 14.6 95% CI (2.7-80.5) (p = 0.002); and 'presence of bridging vessels OR 2.9 95% CI (1.4-6.9) (p = 0.005). Only the presence of numerous coherent vessels involving the bladder-serosal interface (p = 0.002) was proven to be independent predictor of major hemorrhage during hysterectomy. CONCLUSION: The use of 2D color Doppler and 3D power Doppler can help predict massive hemorrhage in cases of PAS disorders.

The test accuracy of antenatal ultrasound definitions of fetal macrosomia to predict birth injury: A systematic review.

OBJECTIVES: To determine which ultrasound measurement for predicted fetal macrosomia most accurately predicts adverse delivery and neonatal outcomes. STUDY DESIGN: Four biomedical databases searched for studies published after 1966. Randomised trials or observational studies of women with singleton pregnancies, resulting in a term birth who have undergone an index test of interest measured and recorded as predicted fetal macrosomia ≥28 weeks. Adverse outcomes of interest included shoulder dystocia, brachial plexus injury (BPI) and Caesarean section. RESULTS: Twenty-five observational studies (13,285 participants) were included. For BPI, the only significant positive association was found for Abdominal Circumference (AC) to Head Circumference (HC) difference > 50 mm (OR 7.2, 95 % CI 1.8-29). Shoulder dystocia was significantly associated with abdominal diameter (AD) minus biparietal diameter (BPD) ≥ 2.6 cm (OR 4.2, 95 % CI 2.3-7.5, PPV 11 %) and AC > 90th centile (OR 2.3, 95 % CI 1.3-4.0, PPV 8.6 %) and an estimated fetal weight (EFW) > 4000 g (OR 2.1 95 %CI 1.0-4.1, PPV 7.2 %). CONCLUSIONS: Estimated fetal weight is the most widely used ultrasound marker to predict fetal macrosomia in the UK. This study suggests other markers have a higher positive predictive value for adverse outcomes associated with fetal macrosomia.

Síndrome de Down y su pesquisa durante el primer trimestre de la gestación / Down Syndrome and Screening During Pregnancy First Trimester

RESUMEN Introducción: La pesquisa prenatal de anomalías cromosómicas, mediante el uso de marcadores epidemiológicos y ecográficos del primer trimestre permite identificar gestantes con riesgo incrementado de síndrome de Down. Objetivos: Analizar la edad materna, la translucencia nucal, el ductus venoso y el hueso nasal, durante el cribaje del primer trimestre, en las gestantes que se realizaron diagnóstico prenatal citogenético, con el fin de evaluar la efectividad del mismo en la detección temprana del síndrome Down y su utilidad para la reducción del número de pruebas invasivas. Métodos: Se realizó un estudio descriptivo retrospectivo de corte transversal y se analiza una muestra de 3439 gestantes a las que se realizó el estudio citogenético indicado en el Centro Provincial de Genética Médica de La Habana, en el período comprendido entre el 3 de enero de 2006 y el 30 de diciembre de 2008. Resultados: La edad materna avanzada mostró una sensibilidad de un 87 por ciento del test y una tasa de falsos positivos de 99 por ciento. La translucencia nucal se comportó con una sensibilidad de 10 por ciento. El hueso nasal no mostró asociación con los cariotipos positivos para síndrome de Down. Al no realizarse sistemáticamente la presencia del ductus venoso, no se pudo establecer una asociación estadística. La estimación de riesgo de síndrome de Down basada únicamente en la edad materna avanzada determina una alta tasa de falsos positivos. Por lo que este marcador, unido a la evaluación de los marcadores ecográficos del primer trimestre para recalcular el riesgo individual, puede aumentar la efectividad en el diagnóstico y disminuir el número de pruebas invasivas. Conclusiones: La estimación de riesgo de síndrome de Down basada únicamente en la edad materna avanzada determina una alta tasa de falsos positivos. Por lo que este marcador, unido a la evaluación de los marcadores ecográficos del primer trimestre para recalcular el riesgo individual, puede aumentar la efectividad en el diagnóstico y disminuir el número de pruebas invasivas(AU)

ABSTRACT Introduction: The prenatal investigation of chromosomal abnormalities through the use of epidemiological and echographic markers on the first trimester, allows to identify pregnant women with an increased risk of Down syndrome. Objectives: To analyze maternal age, nuchal translucency, venous ductus and nasal bone, during the first trimester screening, in pregnant women who underwent prenatal cytogenetic diagnosis, in order to evaluate effectiveness in early detection of Down syndrome and the value for reducing the number of invasive tests. Methods: A descriptive retrospective cross-sectional study was carried out and a sample of 3439 pregnant women was studied. The cytogenetic study ordered at Havana Provincial Center for Medical Genetics was carried out from January 3, 2006 to December 30, 2008. Results: Advanced maternal age showed 87 percent sensitivity and 99 percent of false positive rate. Nuchal translucency accounted 10 percent of sensitivity. The nasal bone showed no association with positive karyotypes for Down syndrome. A statistical association of the venous ductus presence could not be established since the search was not systematically. Conclusions: The estimation of Down syndrome risk based solely on advanced maternal age determines high false positive rate. Therefore, this marker, together with the evaluation of the first trimester ultrasound markers for recalculating the individual risk, can increase the diagnostic effectiveness and decrease the number of invasive tests(AU)

Sonographic Markers in the Prediction of Fetal Complex Gastroschisis.

OBJECTIVE: To investigate the ultrasound (US) markers predictive of complex gastroschisis (CG), mortality, and morbidity in fetuses with gastroschisis. MATERIALS AND METHODS: This was a retrospective cohort study of 186 pregnancies with isolated fetal gastroschisis. Eight US markers were analyzed. The predictions and associations of US markers with CG, mortality, and morbidity were assessed. Combinations of US markers predictive of CG were investigated. RESULTS: Extra-abdominal bowel dilatation (EABD), intra-abdominal bowel dilatation (IABD), and polyhydramnios were predictive of CG. EABD between 25 and 28 weeks had a sensitivity of 64%, a specificity of 89%, a positive predictive value (PPV) of 56.2%, and negative predictive value (NPV) of 91.8%. The predictions of IABD were sensitivity = 26.7%, specificity = 96.7%, PPV = 61.5%, and NPV = 86.8%. The odds ratios for CG in the presence of 1 and 2 US markers, compared with the absence of a US marker, were 18.3 (95% CI, 3.83-87.64) and 73.3 (95% CI, 6.14-876), respectively. CONCLUSION: US markers predictive of CG were established. The combination of these markers increases the probability of CG.

Análisis de los resultados de amniocentesis genética en un centro privado / Analysis of results of genetic amniocentesis in a private center

La identificación de anomalías cromosómicas fetales es una de las principales tareas a las que debe enfrentarse cualquier obstetra involucrado en el diagnóstico de anomalías congénitas. Se analizaron características clínicas y citogenéticas en gestantes sometidas a amniocentesis. Estudio observacional, descriptivo y retrospectivo, incluyó casos consecutivos en un centro privado de julio de 2010 a enero de 2015. Las muestras fueron procesadas en CGC Genetic (Porto-Portugal). Para el análisis estadístico se utilizó PEPI 4.0X. Se realizaron 67 estudios, en el 98,5% se pudo obtener el cariotipo y de éstos resultaron 74,2% normales y 25,8% anormales: 35,4% Trisomía 21, 17,6% Trisomía 18, Trisomía 13 y Sx Turner respectivamente, entre las principales. Indicaciones: 6,0% edad materna, 14,9% edad materna + alteración ecográfica, 77,6% alteración ecográfica (45,2 malformaciones congénitas mayores, 20,1% translucencia nucal aumentada, 17,7% higroma quístico entre otras). La edad gestacional promedio de la punción fue 19 semanas, la menor a las 15 y la mayor a las 30. El resultado del cariotipo se recibió 12 días posteriores a la técnica en promedio, mínimo 8 días y máximo 29. No se presentaron complicaciones obstétricas. El seguimiento de los casos encontró concordancia entre el cariotipo y el fenotipo del recién nacido. Si bien es un número bajo de muestras, la amniocentesis es un método diagnóstico confiable y de bajo riesgo. El diagnóstico prenatal de cromosomopatías permitió el asesoramiento genético y el manejo obstétrico y pediátrico de los casos de manera adecuada. En los embarazos con cariotipo normal, este resultado alivió la preocupación de muchos padres.

Identification of fetal chromosomal abnormalities is one of the main issues which need tobe addressed by any obstetrician involved in diagnosis of congenital anomalies. Clinical andcytogenetic characteristics were analyzed in pregnant women subjected to amniocentesis.This was an observational descriptive retrospective study that included consecutive cases ina private center from July, 2010 to January, 2015. The samples were processed in CGCGenetic (Porto - Portugal). For the statistical analysis, PEPI 4.0X. was used. Sixty sevenstudies were conducted, in 98.5% karyotype was obtained , 74.2% was normal and 25.8%abnormal: 35.4% Trisomy 21, and 17.6% Trisomy 18, Trisomy 13 and Sx Turnerrespectively. Among the the main indications: 6.0% maternal age, 14.9% maternal ageplus ultrasound alteration, 77.6% ultrasound alteration (45.2% major congenital malformations, 20.1 increased nuchal translucency , 17.7% cystic hygroma among others).The mean gestational age of the puncture was 19 weeks, the lowest 15 and the highest 30. The result of the karyotype was received 12 days after the technique, the minimum 8 daysand the maximum 29. There were no obstetric complications. The follow-up of cases found concordance between the karyotype and the phenotype of the newborn. Although this was alow number of samples, the amniocentesis was reliable diagnostic method with low risk. Theprenatal diagnosis of chromosomopathies allowed the genetic counseling and appropiate obstetric and pediatric management cases. In pregnancies with normal karyotype, thisresult alleviated the concern of many parents.

Fetal ultrasound examination and assessment of genetic soft markers in Sweden: are ethical principles respected?

OBJECTIVE: To explore procedures for providing information, assessment and documentation about ultrasound soft markers in Sweden. DESIGN: Descriptive, quantitative, cross-sectional survey. SAMPLE: Eighty-two percent of all obstetric ultrasound clinics in Sweden (covering >90% of routine fetal ultrasound examinations). METHODS: Postal questionnaire survey between December 2010 and January 2011. MAIN OUTCOME MEASURES: Items about provision of information, risk estimation, and follow-up strategies in relation to observed ultrasound soft markers. RESULTS: More than 96% of all fetal routine ultrasound examinations were performed at 15-21 gestational weeks, primarily by midwives. Half of the clinics replying wanted prospective parents to be provided with information, but 38 (78%) of the clinics did not routinely inform about assessment of soft markers before the examination. Follow up and decisions on whether to give information when soft markers were found were based on the number and type of the observed markers, whether other structural deviations existed, and on the woman's age and anxiety level. Only at eight clinics (17%) were parents informed about all soft marker findings. At 13 clinics (28%) observed markers were documented/recorded, even though the women were not informed. CONCLUSIONS: Information regarding the assessment and importance of observed soft markers seems to be inconsistent and insufficient. Provision of information and documentation of findings appear to be handled differently at obstetric ultrasound clinics. This suggests that Swedish ethical principles relating to healthcare and ultrasound examinations are incompletely followed and national guidelines appear to be necessary.

Ultrasound subclinical markers in assessing vascular changes in cognitive decline and dementia.

Aging is often associated with some cognitive impairment. Greater population life expectancy is one explanation for increased incidence of cognitive impairment cases. Large numbers of people with cognitive impairment and dementia is becoming one of the most important medical and social problems worldwide. Therefore, prevention of cognitive impairment is an imperative. Dementia includes a heterogeneous group of disorders, the most common being Alzheimer's disease and vascular dementia. Most cardiovascular risk factors, such as hypertension, diabetes mellitus, hypercholesterolemia, atrial fibrillation, and smoking, are not exclusively risk factors for vascular dementia, but also for Alzheimer's disease. Early changes in the blood vessel wall can be detected by early ultrasound screening methods which allow us to detect changes before the disease becomes clinically evident. Intracranial hemodynamics can be assessed by transcranial Doppler sonography (TCD), functional TCD with various functional tests, and TCD detection of cerebral emboli. Extracranial circulation (carotid and vertebral arteries) can be assessed by means of color Doppler flow imaging. Novel ultrasound technology enables non-invasive, portable, bedside detection of early vascular changes such as arterial stiffness, measurement of the intima-media thickness, pulse-wave velocity, flow-mediated dilation, or endothelial dysfunction in order to obtain information necessary to determine more closely the relation between vascular status and disease development, so that the evolution of cardiovascular disease can be prevented or at least postponed. Early disease detection enables in-time management, and studies have shown that careful control of vascular risk factors can postpone or even reverse disease progression.

Translucencia intracraneal en fetos de embarazo de 11-13 semanas + 6 días / Intracranial translucency in 11-13-week + 6 day old fetuses

El trabajo multidisciplinario de profesionales especializados hace que el seguimiento del embarazo y la prevención de riesgo consigan optimizar cada vez más los resultados en medicina materno-fetal. El mejoramiento progresivo en el cálculo del riesgo, con marcadores ecográficos y séricos ha permitido establecer con mayor precisión el diagnóstico de cromosomopatías y patologías fetales, entre ellas la espina bífida. Aunque la práctica más difundida del screening prenatal es su aplicación en el segundo trimestre, hoy existe más exactitud si se realiza en el primer trimestre de la gestación. La translucencia intracraneal es muy poco conocida a nivel mundial como marcador ecográfico. Para lo cual se propuso realizar la medición de la translucencia intracraneal en los fetos con embarazos entre 11-13 semanas + 6 días y correlacionarla con la aparición de espina bífida en el II trimestre del embarazo, durante el período mayo 2010-2011. Se realizó un diseño prospectivo, longitudinal, no probabilístico, donde la población estuvo representada por 1583 pacientes evaluadas en la Unidad de Perinatología de la Ciudad Hospitalaria "Dr. Enrique Tejera" de Valencia y la muestra constituida por 74 fetos de embarazos entre 11 y 13 semanas + 6 días. En 66,66% la translucencia intracraneal midió entre 2,1 y 3mm, sin evidencias ecográficas de anomalías de cabeza y columna en el II trimestre; 60.81% nació por cesárea; la relación femenino/masculino casi 1/1, 89.18%, con peso al nacer de 2500-4000g, 6.75% de recién nacidos pre término, y en éstos 80% de mortalidad. No se encontró espina bífida en los recién nacidos.

Pregnancy tracking and risk prevention through a multidisciplinary work of professionals increasingly optimizes outcomes in maternal-fetal medicine. The progressive improvement of risk calculation with ultrasound and serum markers has allowed the diagnosis of fetal chromosomal anomalies and pathologies more accurately, including spina bifida. Although prenatal screening is widely performed in the second trimester, it is more precise when done in the first trimester. Intracranial translucency is little known worldwide as an ultrasound marker. For this reason, measurement of intracranial translucency in fetuses between 11-13 weeks + 6 days was carried out, as well as its correlation with the occurrence of spina bifida in the second trimester of pregnancy, This prospective, longitudinal and non-probabilistic study done between May 2010 - 2011 had a population of 1583 patients evaluated in the Perinatology Unit at "Dr. Enrique Tejera" City Hospital in Valencia-Venezuela. The sample consisted of 74 fetuses between 11 and 13 weeks + 6 days. 66.66% intracranial translucency measured between 2.1 and 3 mm, without sonographic evidence of head and spine abnormalities in the second trimester; 60.81% were born by C-section; female / male ratio was almost 1 /1; 89.18% had a birth weight of 2500-4000g. 6.75% were preterm infants, with 80% mortality in this group. No newborns with spina bifida were found.

Marcadores ecográficos de cromosomopatías en el I trimestre de la gestación: ductus venoso / Ultrasound markers of chromosomal defects in the first trimester of pregnancy: ductus venosus

La evaluación Doppler del flujo en el ductus venoso en el primer trimestre ha venido a contribuir con información clínica relevante en las orientaciones a los padres. No sólo se mostró eficaz en el rastreo de anomalías cromosómicas, como la trisomía 21, disminuyendo la tasa de procedimientos invasivos, sino también en el rastreo de cardiopatías congénitas, redefiniendo el grupo de alto riesgo a ser sometido a ecocardiografía precoz. Por su parte, un flujo anormal en el ductus venoso asociado a la translucencia nucal aumentada en uno o en ambos fetos de un embarazo monocoriónico parece una combinación sensible para rastrear precozmente el síndrome de transfusión feto fetal. En todas estas situaciones, el ductus venoso se muestra un marcador eficaz de insuficiencia/disfunción cardíaca.

Doppler evaluation of the flow in the ductus venosus in the first trimester of pregnancy has contributed with clinical information relevant for parents counselling. Not only was effective in tracking chromosomal abnormalities such as trisomy 21, decreasing the rate of invasive procedures, but also in tracking congenital heart disease, redefining the high risk group to be subjected to early echocardiography. Also, an abnormal flow in the ductus venous linked to the nuchal translucency increased in one or both fetuses of a monochorionic pregnancy seem a sensitive combination to early trace the feto-fetal transfusion syndrome. In all these situations, the ductus venous shows to be an effective marker of cardiac dysfunction or insufficiency.

Marcadores sonograficos de cardiopatías congénitas: desproporción de las cavidades cardiacas / Sonographic markers of congenital heart disease: disproportion of the cardiac cavities

La coartación aórtica es una cardiopatía congénita (Cc) de muy difícil diagnóstico antenatal. La forma neonatal es de presentación crítica con dependencia ductal, por lo que la sospecha antenatal permite programar un adecuado manejo neonatal inmediato. En esta tercera publicación, destacamos la importancia de la visualización de una desproporción de las 4 cámaras como marcador sonográfico de Cc. En nuestra serie de Cc, hemos detectado 8 fetos con desproporción de las 4 cámaras; 3 de ellos resultaron portadores de coartación aórtica y 2 portadores de aneuploidias. Reportamos los hallazgos in utero, el resultado postnatal y la conducta más apropiada para la inclusión de este signo como marcador de coartación aórtica.

Coarctation of the aorta remain difficult to identify during the antenatal period. Prenatal detection of the shelf of the coarctation may be difficult to image in the fetus, perhaps related to the normal patency of the ductus arteriosus. The neonatal form is critical and ductus dependent. Antenatal detection could be useful to programme in utero transport or a more opportune intervention in the neonatal period. One of the markers of coarctation of the aorta is ventricular discrepancy or disproportion of the four-chamber view. Among 8 fetuses with disproportion diagnosed in our series, there were 3 coarctation and 2 chromosomal abnormalities. We discuss the clues for in utero detection of disproportion. We considered that the diagnosis of discrepancy between the chambers at the level of the four-chamber view is a tool for the prenatal diagnosis of coarctation of the aorta.