1,721,002 research outputs found
Prenatal ultrasound signs of Aarskog‐Scott syndrome in a twin pregnancy: A case report
Full text linkThe transvaginal probe as a uterine manipulator: a new technique to simplify transabdominal chorionic villus sampling in cases with difficult access to the trophoblast.
No full textOBJECTIVES: To evaluate the efficacy of using the transvaginal probe to manipulate the uterus and change the position of the trophoblast, and to simplify access to the chorionic villus under difficult conditions. METHODS: One thousand five hundred and thirty-nine procedures were performed in our centre in 1524 pregnant women from September 2006 to September 2009. In 90 of these, a difficult access to the trophoblast was observed and uterine manipulation under continuous ultrasound guidance with a double needle technique, was applied to obtain the sample. Of these, 86 samples were taken from singleton pregnancies and 4 from two bichorionic twin pregnancies RESULTS: One thousand five hundred and thirty-nine transabdominal chorionic villus sampling (TA-CVS) procedures were conducted on 1524 pregnant women. As many as 1449 were performed without manipulation with the transvaginal probe and in 90 cases the manipulation was carried out. In 89 cases, access to the trophoblast was difficult and the uterus was manipulated, which enabled an adequate TA-CVS to be performed with a single aspiration. In one case, TA-CVS was not performed due to significant pelvic pain in a patient with a fixed, retroflexed uterus and a previous history of endometriosis. CONCLUSIONS: Uterine manipulation with the transvaginal probe may be a useful solution in cases where TA-CVS is limited by difficult access to the trophoblast. Copyright © 2011 John Wiley & Sons, Ltd
Development of the Fetal Vermis: New Biometry Reference Data and Comparison of 3 Diagnostic Modalities-3D Ultrasound, 2D Ultrasound, and MR Imaging
Full text linkNormal biometry of the fetal posterior fossa rules out most major anomalies of the cerebellum and vermis. Our aim was to provide new reference data of the fetal vermis in 4 biometric parameters by using 3 imaging modalities, 2D ultrasound, 3D ultrasound, and MR imaging, and to assess the relation among these modalities. A retrospective study was conducted between June 2011 and June 2013. Three different imaging modalities were used to measure vermis biometry: 2D ultrasound, 3D ultrasound, and MR imaging. The vermian parameters evaluated were the maximum superoinferior diameter, maximum anteroposterior diameter, the perimeter, and the surface area. Statistical analysis was performed to calculate centiles for gestational age and to assess the agreement among the 3 imaging modalities. The number of fetuses in the study group was 193, 172, and 151 for 2D ultrasound, 3D ultrasound, and MR imaging, respectively. The mean and median gestational ages were 29.1 weeks, 29.5 weeks (range, 21-35 weeks); 28.2 weeks, 29.05 weeks (range, 21-35 weeks); and 32.1 weeks, 32.6 weeks (range, 27-35 weeks) for 2D ultrasound, 3D ultrasound, and MR imaging, respectively. In all 3 modalities, the biometric measurements of the vermis have shown a linear growth with gestational age. For all 4 biometric parameters, the lowest results were those measured by MR imaging, while the highest results were measured by 3D ultrasound. The inter- and intraobserver agreement was excellent for all measures and all imaging modalities. Limits of agreement were considered acceptable for clinical purposes for all parameters, with excellent or substantial agreement defined by the intraclass correlation coefficient. Imaging technique-specific reference data should be used for the assessment of the fetal vermis in pregnanc
Fetal thymus volume estimation by virtual organ computer-aided analysis in normal pregnancies
No full textThe thymus has a pyramidal shape, which is best shown in coronal planes. The aim of this study was to evaluate the potential of virtual organ computer-aided analysis to estimate fetal thymus volume in normal pregnancies. Three-dimensional volume data sets from the axial upper mediastinal section were acquired from 37 normal pregnancies between 12 and 35 weeks' gestation. Thymus volume was calculated by virtual organ computer-aided analysis by 2 separate examiners. In 12 cases, volumes were also acquired with 4-dimensional sonography and spatiotemporal image correlation software to assess the variability in thymus size between the systolic and diastolic periods of fetal heart motion. Linear regression analysis was used to assess the relationship between the fetal thymus volume and gestational age. Paired Student t tests were used to evaluate both the level of agreement for interobserver and intraobserver variability and the difference between diastolic and systolic thymus volumes. Identification of the borders of the thymus and calculation of its volume were successful in 28 patients (77.7%). Statistically significant linear growth of the thymus during pregnancy, from 12 to 35 weeks, was found. The growth coefficient for each gestational age was 0.43 (95% confidence interval, 0.355 to 0.504; P < .001). The difference in thymus size between systole and diastole was minor (0.0798 cm(3); 95% confidence interval, -0.044 to 0.203 cm(3)). Interobserver and intraobserver variability was not statistically significant. Although the thymus has a complex shape, it was possible to determine its borders and to calculate its volume by virtual organ computer-aided analysis in 77.7% of cases. Linear growth during pregnancy was found, and the minor changes during systole and diastole could be explained by condensation of the soft tissue of the thymus secondary to cardiac activity
Vermian biometric parameters in the normal and abnormal fetal posterior fossa: three-dimensional sonographic study
No full textThe purposes of this study were to describe a 3-dimensional sonographic technique for evaluation of the fetal vermis and to compare vermian biometric parameters in fetuses with a normal and an abnormal posterior fossa. A prospective study was conducted from 2006 through 2008 on 12 fetuses with an abnormal posterior fossa and 73 healthy control fetuses from 18 to 35 weeks' gestation. Three-dimensional scans of the fetal head were performed in the axial plane, using static volume contrast imaging in the C-plane. The vermian perimeter, cross-sectional area, and superoinferior diameter were measured and compared between abnormal and normal fetuses using the Wilcoxon nonparametric test. Linear regression analysis was used to describe trends of the vermis during gestation. The z scores for perimeter, cross-sectional area, and superoinferior diameter measurements in the abnormal posterior fossa group in each 2-week interval were calculated. Twelve fetuses with an abnormal posterior fossa were recruited: 3 with a Blake pouch cyst, 1 vermian cyst, 1 enlarged cisterna magna, 2 Dandy-Walker malformation, 4 partial vermian agenesis, and 1 hemicerebellar hypoplasia. The vermian cross-sectional area was reduced significantly in the fetuses with an abnormal posterior fossa compared with the control fetuses starting at 18 to 19 weeks' gestation (P = .01); the mean vermian superoinferior diameter was lower only from 22 to 23 weeks (P = .01); and the mean vermian perimeter was decreased from 28-29 weeks' gestation (P = .03). Linear regression analysis of the parameters showed that fetuses with an abnormal posterior fossa had a statistically significantly lower growth rate than control fetuses during gestation (P < .001). Measurements of the cross-sectional area were more useful than those of the perimeter and superoinferior diameter in distinguishing between fetuses with a normal and an abnormal posterior fossa during the early stages of gestation
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele
No full textno abstrac
Anti-Mullerian hormone measurement on any day of the menstrual cycle strongly predicts ovarian response in assisted reproductive technology
No full textBACKGROUND: Recently, a new marker, the anti-Mullerian hormone (AMH), has been evaluated as a marker of ovarian response. Serum AMH levels have been measured at frequent time-points during the menstrual cycle, suggesting the complete absence of fluctuation. The aim of this study was to evaluate whether serum AMH measurement on any day of the menstrual cycle could predict ovarian response in women undergoing assisted reproductive technology (ART). METHODS: This study included 48 women attending the IVF/ICSI programme. Blood withdrawal for AMH measurement was performed in all the patients independently of the day of the menstrual cycle. RESULTS: Women in the lowest AMH quartile (< 0.4 ng/ml) were older and required a higher dose of recombinant FSH than women in the highest quartile (> 7 ng/ml). All the cancelled cycles due to absent response were in the group of the lowest AMH quartile, whereas the cancelled cycles due to risk of ovarian hyperstimulation syndrome (OHSS) were in the group of the highest AMH quartile. This study demonstrated a strong correlation between serum AMH levels and ovarian response to gonadotrophin stimulation. CONCLUSION: For the first time, clinicians may have a reliable serum marker of ovarian response that can be measured independently of the day of the menstrual cycle
L'induzione della crescita follicolare nelle donne con anovulazione [Ovulation induction in anovulatory women]
No full textOvulation induction therapy is administered to stimulate follicular growth and induce ovulation in anovulatory infertile women. In anovulatory women with polycystic ovary syndrome, the treatment of choice is clomiphene citrate, whereas in clomiphene nonresponders, gonadotrophins are given as secondary therapy. Currently, insulin-sensitizing agents are used in the treatment of polycystic ovary syndrome to restore menstrual cyclicity. In selected patients, laparoscopic drilling has also been suggested. In anovulatory patients affected with hypogonadotropic hypogonadism, treatment is based on gonadotrophin replacement therapy or pulsatile gonadotrophin-releasing hormone infusion. In ovulation induction therapy the clinician's attention should be directed at restoring normal ovary function. When pharmacotherapy is required, monofollicular growth should be induced to reduce the risk of multiple pregnancy
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester
No full textBranchio-oto-renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability, prenatal diagnosis has a limited prognostic value in mutation-positive cases. We report the first branchio-oto-renal syndrome molecular prenatal diagnosis and ultrasonographic follow-up, showing a normal renal growth until the 24th week of pregnancy, a growth deceleration during the third trimester and a renal volume recovery during the first months of life
Pre- and post-natal growth in two sisters with 3-M syndrome
No full text3-M syndrome (OMIM #273750) is a rare autosomal recessive growth disorder characterized by severe pre- and post-natal growth restriction, associated with minor skeletal abnormalities and dysmorphisms. Although the 3-M syndrome is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. We report a family with variable phenotypic features of 3-M syndrome and we describe the prenatal and postnatal growth pattern of two affected sisters with a novel homozygous CUL7 mutation (c.3173-1G>C), showing a pre- and post-natal growth deficiency and a normal cranial circumference
- …
