Clinical implications of an anatomical variant of the ductus venosus.
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Adult↗
Biomedical subjects
P L Venturini
Publications and source records attributed to P L Venturini.
Prenatal diagnosis of a nasal glioma in the mid trimester.
We report a case of fetal nasal glioma diagnosed at 21 weeks of gestation. The glioma appeared as a moderately hypoechoic mass arising from the junction between the medial aspect of the left orbit and the lateral aspect of the nose, and showing no internal vascularization on color and power Doppler ultrasonography. Fetal magnetic resonance imaging (MRI) excluded the possibility of an encephalocele by ruling out underlying bone defects. After an uneventful pregnancy, the nasal glioma was resected without complications at 4 months of age. The differential diagnosis of fetal paranasal facial masses is discussed.
Adult↗
Timing of mid-trimester sacral ossification: reply.
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Adult↗
A newly described thoracic vascular malformation in fetuses with Down syndrome.
OBJECTIVES: To report the association between thoracic vascular malformations observed in the first trimester of pregnancy and Down syndrome. METHODS: The clinical features were reviewed of seven fetuses undergoing chorionic villus sampling (CVS) for increased nuchal translucency (NT) thickness, in which color Doppler ultrasonography revealed a vascular malformation in the fetal thorax. RESULTS: The crown-rump length of the fetuses ranged from 58 to 78 mm and NT measurements ranged from 2.9 to 10.0 mm. Color Doppler allowed the identification of a highly vascular structure in the posterolateral portion of the fetal thorax, in proximity to the costovertebral angle, at the level of a four-chamber view of the heart. The lesions had a globular shape and were 4-6 mm in diameter, occupying almost one third of the hemithorax. Down syndrome was diagnosed in five out of the seven cases. In the only affected case that underwent postmortem examination, a hemangioma of the chest wall was demonstrated. In the two fetuses with normal karyotype, the lesion disappeared by mid-gestation. CONCLUSION: We report an association between the prenatal Doppler finding of a vascular tumor in the fetal chest and Down syndrome.
Cardiovascular Abnormalities↗
Fetal spine ossification: the gender and individual differences illustrated by ultrasonography.
The spatial and temporal pattern of manifestation of ossification nuclei of the spinal column in fetal life have been well established by histologic and radiologic studies. Sonographic evaluation of the fetal spine depends on visualization of the ossification centers, but the sequence of development of ossification centers in the vertebral column obtained by embryologists and sonographers and radiology are conflicting. We carried out a longitudinal study to establish the ultrasonographic appearance and timing of development of primary ossification centers of the fetal spine in the first and second trimesters of pregnancy. A total of 80 mothers were evaluated during their pregnancy with two echographic controls; in the first trimester, the spine length was measured and, in the second trimester of pregnancy, the timing of ossification of the bodies and neural arches of sacral vertebrae and the difference in appearance between the female and male genders were evaluated. Spinal length measurements obtained in the first trimester and percentage of detection of sacral vertebral structures increased progressively with a regular pattern in relation to gestational age. Spinal length at first ultrasound examination was slightly correlated with time of appearance of sacral bodies and arches. Ossification timing was significantly earlier in females than in males. The study has attempted to improve our understanding of the sonographic detection of the spinal ossification. Data presented give some further information on the stages of appearance of sacral vertebrae body centers during intrauterine development. Differences between genders and interindividual variations in ossification timing were observed at a very early stage of development. This could be of value when fetal growth is evaluated. Moreover, further knowledge of spinal development may be useful for early diagnosis of spinal abnormalities and for fetal biometrics.
Adult↗
Sperm aneuploidy and recurrent pregnancy loss.
Experiments of double target in-situ hybridization were performed separately for chromosomes 1-17, 8-18 and sex chromosomes on sperm samples from 20 couples suffering from three or more recurrent first trimester abortions. For a subset of this study population, additional experiments of multicolour fluorescence in-situ hybridization for chromosomes 4, 7, 12, 13, 15, 18, 21, and 22, were performed on the bases of the available data from abortive tissue karyotyping. A markedly high rate of sperm disomy (14.5-15.5%) was scored in only two cases. For three other patients, the cumulative disomy rates for chromosomes 1, 17, 8, 18, X and Y also increased but at a lower level (7.8-9.5%). For the remaining 15 patients, the frequency of sperm aneuploidy was moderately increased or normal. Men with recurrent pregnancy loss (RPL) and poor semen quality had baseline sperm aneuploidy and diploidy rates higher than men with normal semen parameters (with or without RPL). Using probes for chromosomes 1, 17, 8, 18, X and Y, significantly elevated frequencies of sperm aneuploidy (not diploidy) were found in 10% of men with a history of RPL. Their rate of sperm aneuploidy was 30-34%. For the other men, changes in sperm aneuploidy were not thought to affect RPL. Poor semen quality per se impacted negatively on sperm aneuploidy and diploidy, thus making the interpretation of clinical data more difficult.
Abortion, Habitual↗
Ossification timing of sacral vertebrae by ultrasound in the mid-second trimester of pregnancy.
OBJECTIVES: The aim of the study was to establish the ossification timing of sacral vertebrae by ultrasonography in the second trimester of pregnancy, for the diagnosis of caudal regression syndrome with isolated sacral agenesis. METHODS: The study was carried out on 77 normal single pregnancies, at gestational ages ranging from 15 to 21 weeks, using high-resolution transabdominal echography. The sacral region was visualized in a coronal plane, when the fetus was in anterodorsal position. The level of ossification of sacral vertebrae (S1 to S5) at each gestational age was recorded. Each sacral region was examined three times by the same observer and the nucleus was considered as present when it was visualized at least two times out of three. Blind assessment was performed three times by a second observer, who was not present at the previous examination, for interobserver and intraobserver error analysis. RESULTS: Interobserver and intraobserver error calculation demonstrated the reproducibility of the method. Concordance between the two observers as evaluated by Cohen Kappa index was 0.77 (C.I. 95%, 0.69-0.85).S1 ossification nuclei were visualized in all fetuses at 15 weeks and S2 nucleus was found in all fetuses within 17 weeks. S3 nucleus was detected in 45% of fetuses by the beginning of the 16th week. S4 was visualized in 55% of the cases at 18 weeks and progressively in a higher percentage of cases during the following weeks of gestation. CONCLUSION: The data obtained showed that the sequence of development of sacral region ossification was related to gestational age. This observation allows clinicians to accurately exclude isolated sacral agenesis at 16 to 17 weeks of gestation, when the S1-S2 ossification nuclei are visualized. This opportunity may be of particular value in the offspring of diabetic mothers.
Adult↗
Effect of fetal gender on first-trimester ductus venosus blood flow.
OBJECTIVES: Recent reports have suggested that nuchal translucency (NT) measurements in the first trimester may be influenced by fetal gender. Since both NT and central venous blood flow are considered to be related to fetal cardiac function, we investigated gender-related differences in first-trimester ductus venosus Doppler indices. METHODS: A total of 73 male and 79 female normal fetuses at 10-14 weeks of gestation were included in the study. The pulsatility index for veins (PIV), peak velocity during ventricular systole (S-wave), time-averaged maximum velocity (TAMV) and A-wave velocity (A-wave) were recorded in each case and converted to the corresponding Z-scores. RESULTS: The mean Z-score values of PIV, S-wave and TAMV were significantly lower in male fetuses compared to female fetuses (P < 0.01 for all three indices). By contrast, A-wave velocities were not different in the two groups. The correlation between S-wave velocity and TAMV was significant in both male (P < 0.001) and female (P < 0.001) fetuses, while PIV did not appear to be related to TAMV either in males (P = 0.90) or in females (P = 0.49). A-wave velocity had a significant negative correlation with PIV in both groups. Finally, PIV was significantly correlated with S-wave velocity in female fetuses (P < 0.01) but not in males (P = 0.14). CONCLUSION: These findings suggest that early cardiovascular development may be different in male and female fetuses.
Adult↗
A defective expression of ICAM-1 (CD54) on secretory endometrial cells is associated with endometriosis.
A defect in the cytolytic activity against autologous endometrial cells refluxed in the peritoneal cavity has been hypothesized as being involved in the etiology of endometriosis, although its causes have not been definitively identified. Cell adhesion molecules are necessary not only for cell-to-cell contact but also for the binding of immune effectors to their targets. In this study, the expression of CD54, CD58 and CD106, three adhesion molecules with a crucial role in cytotoxic mechanisms, was quantitatively studied on fresh endometrial cells by immunofluorescence and flow cytometry. Samples were collected from endometriosis patients (n=10) and controls (n=12), either during the follicular or luteal phase of the cycle. While no significant differences were observed for CD58 and CD106, a significantly reduced expression of CD54 in the secretory endometrial cells of women with endometriosis was observed (-75% with respect to apparently healthy controls). These findings could account for an apparently cyclic defect in the expression of CD54 that could result in poor binding of immune effectors to secretory endometrial cells in vivo. The defective recognition and removal of refluxed endometrial cells could, at least in part, be involved in the pathogenesis of endometriosis.
Adult↗
Spine length measurement in the first trimester of pregnancy.
OBJECTIVES: The aim of the study was to evaluate spine length as an indicator of skeletal growth in the first trimester of pregnancy and to provide a nomogram of spine length at the end of the first trimester of pregnancy. METHODS: The study was carried out on 420 single pregnancies, at gestational ages ranging from 11 to 14 weeks, using high-resolution transabdominal echography. Biparietal diameter and crown-rump length (CRL) were measured to date the pregnancy. Using the same scanning plane used to measure CRL, the whole spine length in antero-dorsal position can be visualized as a double hyperechoic line from 10 weeks of gestation onwards. Spine length was measured three times by one observer and the mean of the three measurements was considered as definitive. Forty fetuses had multiple measurements for interobserver and intraobserver error analysis. RESULTS: Linear relationship between spine length, and gestational age, biparietal diameter and CRL were demonstrated. Spine length (millimetres) as a function of gestational age (days) was expressed by the regression equation: spine length = 1.09 x (gestational age in days) -60.56, with a determination coefficient of R(2) = 0.744. Spine length ranged from 21.5 mm at 11 weeks to 41.9 mm at 14 weeks. CONCLUSION: The data obtained showed that spine length increased progressively from the end of the first trimester to the beginning of the second. A high correlation between spine length, gestational age, biparietal diameter, and CRL was observed. Spine length measurement could therefore be considered a good indicator of fetal growth.
Adult↗
Reference values for ductus venosus Doppler flow measurements at 10-14 weeks of gestation.
OBJECTIVES: To calculate reference ranges for ductus venosus Doppler measurements obtained transabdominally at 10-14 weeks of gestation. DESIGN: Two hundred and one normal fetuses with a crown-rump length (CRL) ranging from 38 to 88 mm were examined in a cross-sectional study. The pulsatility index for veins (PIV), peak velocity during ventricular systole (S-wave), lowest forward velocity during atrial contraction (A-wave) and time-averaged maximum velocity (TAMXV) were recorded from the ductus venosus. Flow velocity waveforms were also classified as normal or abnormal according to the presence (normal) or absence or reversal (abnormal) of frequencies during atrial contraction. RESULTS: Three of 201 fetuses showed an abnormal flow pattern (1.5%; 95% exact confidence interval, 0.3-4.3%). In the 198 fetuses with a normal flow pattern, the mean PIV ranged from 1.07 at a CRL of 38 mm to 1.00 at a CRL of 88 mm (r = -0.093; P = 0.19). A significant increase in mean blood flow velocity with increasing CRL was noted for the S-wave (27.0 cm/s to 33.6 cm/s; r = 0.17; P = 0.02), the A-wave (5.9 cm/s to 7.8 cm/s; r = 0.14; P = 0.04) and the TAMXV (19.4 cm/s to 25.3 cm/s; r = 0.19; P < 0.01). Crown-rump length-specific reference ranges for each parameter were calculated using the method of scaled absolute residuals. CONCLUSIONS: Abnormal ductus venosus flow patterns could be observed in normal fetuses, even if they ocurred with a low prevalence. Reference values for Doppler measurements were established in fetuses with normal patterns of flow.
Blood Flow Velocity↗
Reference values for fetal limb biometry at 10-14 weeks of gestation.
OBJECTIVES: To calculate reference ranges for fetal limb measurements obtained by transabdominal ultrasound at 10-14 weeks of gestation. METHODS: Six hundred and six normal fetuses were examined transabdominally in a cross-sectional study by a single observer. The crown-rump length of the fetuses ranged from 31 to 78 mm. Measurement of the length of the humerus, ulna, femur, tibia and foot was attempted from the longest section of each structure. To assess intraobserver repeatability, three sets of repeated measurements were obtained in 26 fetuses. RESULTS: An appropriate ultrasound measurement was obtained in a percentage of cases ranging from 93.2% to 97.9%. A significant correlation was found between crown-rump length measurements and humerus length (r = 0.74, P < 0.001), ulna length (r = 0.70, P < 0.001), femur length (r = 0.77, P < 0.001), tibia length (r = 0.69, P < 0.001) and foot length (r = 0.58, P < 0.001). Crown-rump length-specific reference ranges for each measurement were calculated with the method of scaled absolute residuals. The study of intraobserver variability showed coefficients of variation ranging from 7.9 to 10.0% and intraclass correlation coefficients ranging from 0.89 to 0.94. CONCLUSIONS: Fetal limb size is strongly correlated with crown-rump length. Despite a significant biological variability of the measurements, the availability of reference ranges could be of help in the early diagnosis of fetal skeletal dysplasias.
Biometry↗
Gestational choriocarcinoma arising in a cornual pregnancy.
A of a case of cornual pregnancy associated with initial transformation to choriocarcinoma is reported. Appropriate monitoring of HCG titers following conservative management of ectopic pregnancy is important not only to diagnose persistent ectopic gestation, but to avoid missing trophoblastic disease, albeit rarely.
Adult↗
Reproducibility of ductus venosus Doppler flow measurements at 11-14 weeks of gestation.
OBJECTIVES: To assess the intra- and interobserver repeatabilities of fetal ductus venosus Doppler measurements at 11-14 weeks of gestation. DESIGN: Flow velocity waveforms were recorded transabdominally. Intraobserver repeatability was studied in 22 fetuses in whom four repeated measurements were performed by the same observer. Interobserver repeatability was assessed in 54 fetuses in each of whom two observers performed two repeated measurements. The pulsatility index for veins (PIV), peak velocity during ventricular systole (S wave), peak velocity during atrial contraction (A wave) and time-averaged maximum velocity (TAMV) were recorded. Reproducibility of the Doppler measurements was analyzed by calculating repeatability coefficient, coefficient of variation (CV), intraclass correlation coefficient (ICC), mean differences and their limits of agreement. Cohen's k-coefficient was used for categorical data. RESULTS: Intraobserver repeatability was good with a CV of 10%, 13%, 22% and 13% and an ICC of 0.85, 0.94, 0.94 and 0.95, respectively, for PIV, S wave, A wave and TAMV. Interobserver repeatability was also good, and no bias between the observers was detected. A CV of 8.8%, 14%, 27% and 15% and an ICC of 0.86, 0.84, 0.87 and 0.84, respectively, for PIV, S wave, A wave and TAMV were obtained. There was 100% agreement for the detection of normal/abnormal blood flow. CONCLUSIONS: Intra- and interobserver repeatability of all parameters was acceptable, allowing for the detection of moderate to large changes in Doppler measurements.
Adult↗
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
Thanatophoric dysplasia is the most common type of lethal skeletal dysplasia. It can usually be diagnosed with ultrasound, but differential diagnosis with other osteochondrodysplasias is not always possible. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been demonstrated to cause two distinct subtypes of the disorder. We describe a case of thanatophoric dysplasia type I diagnosed at 18 weeks of gestation by ultrasonography. Genomic DNA obtained by chorionic villus sampling showed a C to G substitution at position 746 in the FGFR3 gene, resulting in a Ser249Cys substitution already known to be associated with type I disease. Implications for perinatal management are discussed.
Adult↗
Frequency of hyper-, hypohaploidy and diploidy in ejaculate, epididymal and testicular germ cells of infertile patients.
The hypothesis that sperm aneuploidy and diploidy increase as a function of spermatogenesis impairment was addressed. Ejaculated semen samples from a series of men (n = 22) with very low total normal motile count (1 x 10(6)) was analysed in terms of sperm aneuploidy and diploidy by in-situ hybridization and compared with controls (n = 10). Germ cell aneuploidy was also analysed in an additional series of infertile patients presenting unexplained infertility (n = 3), congenital absence of the vas deferens (CAVD) (n = 6) and non-obstructive azoospermia (n = 3) undergoing IVF, microsurgical epididymal sperm aspiration (MESA)/ICSI and testicular sperm extraction (TESE)/ICSI cycles respectively. In-situ hybridization for chromosomes 1, 17, X and Y was performed on ejaculate, epididymal and testicular spermatozoa. Significantly higher sperm aneuploidy and diploidy rates where found (for the four chromosomes analysed) in spermatozoa from oligoasthenoteratozoospermia (OAT) over controls (18 versus 2.28% and 2.8 versus 0.13% respectively; P < 0.001). Testicular germ cells had even higher rates of sperm aneuploidy and diploidy. However, in this group it was difficult to determine whether the cells analysed were dysmorphic spermatozoa or spermatids. The data warrant further investigation on the cytogenetic abnormalities found in most germ cells identified in testicular tissue biopsies of azoospermic patients.
Adult↗
Extent of correlation between first and second trimester markers for Down's syndrome screening.
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Biomarkers↗
A prospective, randomized, controlled clinical study of a new subcutaneous, purified, urinary FSH preparation for controlled ovarian hyperstimulation in in vitro fertilization.
The aim of this study was to evaluate the clinical efficacy and safety of a new urinary follicle stimulating hormone (FSH) preparation (Fostimon) in patients undergoing in vitro fertilization-embryo transfer or intracytoplasmic sperm injection. Metrodin HP was adopted as a reference drug, as its purity and therapeutic efficacy are well known. Sixty normo-ovulatory patients aged 18-38 years with normal basal FSH and body mass index < 25 kg/m2 were selected for the study. After gonadotropin releasing hormone analogue pituitary desensitization, patients were randomized to receive either Fostimon or Metrodin HP at the initial dosage of 225 IU for 6 days. Thereafter, the dosage was tailored according to the ovarian response. Both drugs were administered by the subcutaneous route. The primary end-points were: number of follicles larger than 15 mm, levels of 17 beta-estradiol on the day of human chorionic gonadotropin (hCG) injection and number of oocytes recovered. The secondary end-points were: number of FSH ampules used, day of hCG injection and pregnancy rate. FSH kinetic curves were calculated during the treatment period with both products. Safety was evaluated by pre- and post-treatment blood biochemistry and hematology, and recording all side-effects. Local tolerance was investigated at each visit. None of the parameters evaluated showed a statistically significant difference between the two groups. Local tolerance was always recorded as good/excellent by both the patients and the physician. In conclusion, Fostimon proved to be an effective and safe drug for assisted reproductive cycles.
Adolescent↗