Ultrasound assessment of maternal adipose tissue during 1st trimester screening for aneuploidies and risk of developing gestational diabetes.

INTRODUCTION: The objective of the present study is to compare the sonographic measurement of subcutaneous adipose thickness and visceral adipose thickness during 1st trimester screening for aneuploidies between non-diabetic pregnant women and patients who develop 1st trimester or 2nd trimester gestational diabetes mellitus (GDM). MATERIAL AND METHODS: Adipose thickness was measured by transabdominal ultrasound imaging in pregnant women attending our clinic for screening for fetal aneuploidies between 11 and 13 weeks of gestation. During the 1st trimester all patients were evaluated for fasting glycemia in accordance with the International Association of Diabetes and Pregnancy Study Groups (IADPSG) recommendations. Patients with confirmed fasting glycemia (FPG) ≥92 mg/dL were diagnosed as 1st trimester GDM. Patients with FPG <92 mg/dL underwent a 75-g oral glucose tolerance test between 24 and 28 weeks. RESULTS: The study population included 238 non-diabetic women, 29 women with 1st trimester GDM and 28 women with 2nd trimester GDM. Mean subcutaneous adipose thickness and visceral adipose thickness values in non-diabetic women were 9.8 mm (standard deviation [SD = 4.9) and 7.2 mm (SD = 3.5), respectively. Values in women with 1st trimester GDM were 12.8 mm (SD = 6.5) and 9.9 mm (SD = 4.4). In the 2nd trimester GDM group, the mean subcutaneous adipose thickness was 11.1 mm (SD = 4.6) and the mean visceral adipose thickness 10.5 mm (SD = 5.3). Multiple logistic regression analysis showed that visceral adipose thickness, but not subcutaneous adipose thickness, was significantly and independently associated with both 1st trimester GDM (OR 1.15, 95% CI 1.02-1.29) and 2nd trimester GDM (odds ratio [OR] 1.19, 95% confidence interval [CI] 1.05-1.34). CONCLUSIONS: Sonographic thickness of maternal visceral adipose tissue was greater in women with GDM than in non-diabetic patients, independently of other known risk factors associated with GDM in the 1st and in the 2nd trimester of pregnancy. Thus, this measurement may be considered of clinical use in 1st trimester screening.

Maternal Subcutaneous and Visceral Adipose Ultrasound Thickness in Women with Gestational Diabetes Mellitus at 24-28 Weeks' Gestation.

OBJECTIVE: To compare the sonographic measurement of maternal subcutaneous and visceral adipose thickness between pregnant women with gestational diabetes mellitus (GDM) and patients with nondiabetic pregnancies. METHODS: Adipose thickness was measured by transabdominal ultrasound in pregnant women attending our antenatal clinics at 24-28 weeks' gestation. All patients underwent a 75-g oral glucose challenge as a diagnostic test for GDM. RESULTS: The study population comprised 56 women with a positive glucose challenge test and 112 nondiabetic pregnancies. Measurements of subcutaneous and visceral adipose tissues were converted into multiples of the median (MoM), adjusted for gestational age. The mean subcutaneous thickness MoM in patients with GDM was significantly higher compared to nondiabetic pregnancies (1.31 vs. 1.07; p = 0.011). Similarly, the mean visceral thickness MoM was higher in women with a positive oral glucose tolerance test compared to controls (1.61 vs. 1.06; p < 0.001). Multivariate logistic regression analysis demonstrated that visceral adipose thickness, but not subcutaneous thickness, was significantly and independently associated with GDM (odds ratio 34.047, 95% confidence interval 9.489-122.166). CONCLUSIONS: Sonographic thickness of maternal visceral adipose tissue at 24-28 weeks' gestation was higher in women with GDM compared to nondiabetic pregnancies, independently from other known risk factors associated with GDM.

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.

OBJECTIVE: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS). METHODS: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n = 69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with <10 × 106 reads (n = 54) were excluded for downstream data analysis. Follow-up data (invasive testing results or neonatal information) were available for all samples. Performances in terms of specificity/sensitivity and Z-score distributions were evaluated. RESULTS: All positive samples for trisomy 21 (T21) (n = 43), trisomy 18 (T18) (n = 6) and trisomy 13 (T13) (n = 7) were correctly identified (sensitivity: 99.9%); 5 false positive results were reported: 3 for T21 (specificity = 98.9%) and 2 for T13 (specificity = 99.4%). Besides FF, total cfDNA concentration seems another important parameter for MPS, since it influences the number of reads. CONCLUSIONS: The overall test accuracy allowed us introducing NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10 + 4 weeks of gestation. Sex chromosome aneuploidy assessment needs further validation due to the limited number of aneuploid cases in this study.

First trimester contingent screening for trisomies 21,18,13: is this model cost efficient and feasible in public health system?

PURPOSE: To evaluate the effectiveness of three different first trimester screening models for trisomies 21, 18 and 13, in terms of detection rate, invasive test rate and final costs. MATERIAL AND METHODS: We analyzed the distribution of risk for trisomies 21, 18 and 13 in a population of 20,831 singleton pregnancies based on maternal age, fetal heart rate, nuchal translucency, free beta human chorionic gonadotropin and pregnancy-associated plasma protein A (Combined test). On the basis of our data, we estimated the performance and cost of screening for trisomies using three different models at specific cutoffs: Combined test; Cell free DNA test and Contingent screening test. RESULTS: Using Combined test, DR for major trisomies was estimated to be 94.92%, invasive test rate was 6.3%. cfDNA would result in a DR of 97.92%, with an invasive test rate of 3.64%. Contingent screening approach would result in an overall DR of 97.82, with a rate for invasive procedure of 1.36% and a final cost lower than other screening policies (2,338,433 euro vs 5,796,060 of cfDNA and 2,385,473 of Combined test). CONCLUSIONS: Contingent screening test could be a cost-efficient and feasible first trimester screening test for aneuploidies in public health system.

First trimester fetal anatomy study and identification of major anomalies using 10 standardized scans.

OBJECTIVE: to validate the use of the first trimester scan not just as a screening tool for chromosomal anomalies, but also as a method to identify the major anatomic anomalies using 10 standardized scans. METHODS: five years of prospective study analyzing the fetal anatomy of 5924 patients with a singleton pregnancy during the first trimester screening for chromosomopathies. A check list of 10 predetermined scans had been used. The follow up consisted of two more scans in the second and third trimester, according to the local protocol, and a final evaluation of neonatal outcome at birth. RESULTS: in the 5924 examined patients, the percentage of major malformations is 0.74%, most of all discovered in the first trimester (47.7%). The Detection Rate for the malformations related to the nervous system is about 50% and for the malformations of the abdomen, heart and skeleton is slightly lower (43.5%). CONCLUSIONS: first trimester ultrasound using 10 standardized scans is a valid screening method for chromosomopathies and also an effective method to identify many of the major fetal anato - mical anomalies.

Sonographic diagnosis of fetal cardiac rhabdomyomas and cerebral tubers: a case report of prenatal Tuberous Sclerosis.

UNLABELLED: The rhabdomyoma constitutes more than 60% of all cardiac tumors that are diagnosed in the prenatal and postnatal age. In more than 50% of cases, it is the first clinical manifestation of tuberous sclerosis (TS), autosomal dominant genetic condition and multisystem involvement. METHODS: we report a case of cardiac rabdomyomatosis in twin pregnancy bicorial biamniotic, with suspicion for tuberous sclerosis, diagnosed at our hospital. For the diagnosis of cardiac rhabdomyomas we used the two-dimensional ultrasound, and 3D echocardiography. For the diagnosis of intracranial subependymal nodules an ultrasound and RMN were used. Cesarean section was performed at 34 weeks. The diagnosis of tuberous sclerosis was confirmed at birth by genetic testing. RESULTS: at birth, instrumental examinations have confirmed the ultrasonographic findings and genetic testing for the detection of tuberous sclerosis confirmed the suspected diagnosis. The cardiac lesions regressed spontaneously and the brain showed no progression. CONCLUSION: the study of the fetal heart ultrasound has allowed an early prenatal diagnosis of cardiac neoplasms, allowing control of their development and their association with other lesions which then actually appeared in the suspicion of a genetic disease much more complex than the Tuberous Sclerosis.

Satisfactory rate of postprocessing visualization of standard fetal cardiac views from 4-dimensional cardiac volumes acquired during routine ultrasound practice by experienced sonographers in peripheral centers.

The aim of this study was to evaluate the feasibility of visualizing standard cardiac views from 4-dimensional (4D) cardiac volumes obtained at ultrasound facilities with no specific experience in fetal echocardiography. Five sonographers prospectively recorded 4D cardiac volumes starting from the 4-chamber view on 500 consecutive pregnancies at 19 to 24 weeks' gestation undergoing routine ultrasound examinations (100 pregnancies for each sonographer). Volumes were sent to the referral center, and 2 independent reviewers with experience in 4D fetal echocardiography assessed their quality in the display of the abdominal view, 4-chamber view, left and right ventricular outflow tracts, and 3-vessel and trachea view. Cardiac volumes were acquired in 474 of 500 pregnancies (94.8%). The 2 reviewers respectively acknowledged the presence of satisfactory images in 92.4% and 93.6% of abdominal views, 91.5% and 93.0% of 4-chamber views, in 85.0% and 86.2% of left ventricular outflow tracts, 83.9% and 84.5% of right ventricular outflow tracts, and 85.2% and 84.5% of 3-vessel and trachea views. The presence of a maternal body mass index of greater than 30 altered the probability of achieving satisfactory cardiac views, whereas previous maternal lower abdominal surgery did not affect the quality of reconstructed cardiac views. In conclusion, cardiac volumes acquired by 4D sonography in peripheral centers showed high enough quality to allow satisfactory diagnostic cardiac views.

Satisfactory rate of post-processing visualization of fetal cerebral axial, sagittal, and coronal planes from three-dimensional volumes acquired in routine second trimester ultrasound practice by sonographers of peripheral centers.

OBJECTIVE: The aim of this study was to evaluate the feasibility to visualize central nervous system (CNS) diagnostic planes from three-dimensional (3D) brain volumes obtained in ultrasound facilities with no specific experience in fetal neurosonography. METHODS: Five sonographers prospectively recorded transabdominal 3D CNS volumes starting from an axial approach on 500 consecutive pregnancies at 19-24 weeks of gestation undergoing routine ultrasound examination. Volumes were sent to the referral center (Department of Obstetrics and Gynecology, Università Roma Tor Vergata, Italy) and two independent reviewers with experience in 3D ultrasound assessed their quality in the display of axial, coronal, and sagittal planes. RESULTS: CNS volumes were acquired in 491/500 pregnancies (98.2%). The two reviewers acknowledged the presence of satisfactory images with a visualization rate ranging respectively between 95.1% and 97.14% for axial planes, 73.72% and 87.16% for coronal planes, and 78.41% and 94.29% for sagittal planes. The agreement rate between the two reviewers as expressed by Cohen's kappa coefficient was >0.87 for axial planes, >0.89 for coronal planes, and >0.94 for sagittal planes. The presence of a maternal body mass index >30 alters the probability of achieving satisfactory CNS views, while existence of previous maternal lower abdomen surgery does not affect the quality of the reconstructed planes. CONCLUSIONS: CNS volumes acquired by 3D ultrasonography in peripheral centers showed a quality high enough to allow a detailed fetal neurosonogram.

Relación entre el largo del fémur fetal y la edad gestacional en la población Venezolana: estudio ultrasonográfico de 1465 casos / Relationship between of the fetal femur lenght and gestational age in Venezuelan population: ultrasonographic study of 1465 cases

Em 1.465 pacientes embarazadas, representando una sección transversal de la población venezolana, se estudió el largo del fémur desde la l4ª hasta la 41ª semana de gestación y se contruyó una curva de crecimiento del mismo, que repite la tendencia general observada en la literatura mundial, pero presenta, respecto a éstas, una mayor dispersión de los valores al comienzo del embarazo. La curva de la desviación estandard presenta luego un decurso paralelo al promedio y no es sino a la 38ª semana cuando muestra una moderada abertura alcanzando valores comparables a los de la literatura. Se discuten las causas que puedan explicar esta diferencia

Estudio ultrasonográfico del núcleo de osificación de la epífisis distal del fémur: tiempo de aparición, desarrollo y relación con el largo del fémur / Ultrasonographic evaluation of the distal femoral epiphyseal ossification nucleus time of appearence, development and relationship with the length of the femur

En 415 pacientes con embarazos normales desde 28 semanas hasta término, se estudió por ultrasonido el tiempo de aparición y las características de desarrollo del N.O.E.D.F. El primer núcleo fue visto a la 28ª semana y de allí en adelante el porcentaje de positividad aumentó a 86% para la 34ª semana y desde la 37ª semana prácticamente todos los fetos presentaron N.O.E.D.F. Igualmente, se observó un aumento progresivo de tamaño desde la forma lineal, pequeña, a la ovalada, mediana y a la grande que es típica del EAT. Esto fue cierto también para casos individuales seguidos longitudinalmente. Se observó, además, que a núcleos grandes correspondió fémur grande y que los otros tipos de núcleos coincidieron, en conjunto, con fémur más pequeño pero sin otra tendencia diferencial dentro del grupo. Se discuten las implicaciones clínicas de los datos encontrados relacionándolas en particular con el diagnóstico de edad gestacional y con los procesos de aumento de peso y de maduración del feto

Relación entre el peso del recién nacido y las características del núcleo de osificación de la epífisis distal del fémur / Relationship between the newborn's weight and the characteristics of the distal femoral epihyseal ossification nucleus

Em 162 casos, desde la semana 34ª hasta término, se demostró que existe una relación entre las características del N.O.E.D.F. y el peso del recién nacido, en el sentido de que a núcleo más grande correspondió peso mayor. Esta relación adquiere su pleno significado cuando se evaluá junto con las características de aparición y desarrollo del N.O.E.D.F. en las distintas épocas gestacionales