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Biomedical subjects

G Errante

Publications and source records attributed to G Errante.

15 recordsLinked to original sources

Fetal nasal bone and trisomy 21 in the second trimester.

OBJECTIVES: To assess the feasibility of measuring nasal bone length in the second trimester of pregnancy and to confirm if fetal nasal bone absence or hypoplasia is a marker for Down syndrome. METHODS: Fetal nasal bone assessment was performed in 439 consecutive singleton pregnancies at high risk of Down syndrome between 15 and 21 weeks. All ultrasound examinations were performed transabdominally by five skilled sonographers. If the nasal bone was present, its length was measured. The biparietal diameter: nasal bone length ratio (BPD/NBL) was also calculated. RESULTS: Nasal bone assessment was successfully achieved in all fetuses. The nasal bone was absent in 2(0.47%) of the 417 unaffected fetuses and in 10(55.5%) of the 18 fetuses with trisomy 21. Of the 8 Down syndrome cases with a nasal bone present, 4 had nasal bone hypoplasia and 4 had a normal nasal bone. BPD/NBL was 9 or greater in 7 of the 8 fetuses affected by trisomy 21 with nasal bone present and in 86 (20.6%) of the 417 normal fetuses; it was 10 or greater in 5 of the 8 (62.5%) fetuses affected by trisomy 21 and in 41 of the 417 (9.8%) euploid fetuses. CONCLUSIONS: Nasal bone absence is a marker for Down syndrome in the second trimester of pregnancy. Inclusion of nasal bone length into the second-trimester screening protocol could potentially obviate the false-negative cases from other screening tests. The measurement of nasal bone length in the second trimester seems to provide additional benefits beyond the assessment of the presence or absence of the nasal bone.

Adult↗

Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1906 fetuses.

OBJECTIVE: The aim of this study is to evaluate the significance of nasal bone ossification as a marker for trisomy 21 at 11 to 14 weeks' gestation in an unselected obstetric population referred to our Centre. METHODS: A total of 1906 consecutive fetuses undergoing nuchal translucency scan at 11 to 14 weeks' gestation were evaluated for the presence of hypoplasia/absence of nasal bone. The data obtained were correlated with fetal karyotype. RESULTS: A successful view of the fetal profile was obtained in 1752 fetuses (91.9%). The nasal bone was hypoplastic/absent in 12 of 19 fetuses with chromosomal abnormalities. There were 10 cases of trisomy 21, in 8 of which hypoplastic/absent nasal bone was observed. Furthermore, absence of nasal bone was recorded in 24 of 1733 chromosomally normal fetuses. CONCLUSIONS: Nasal bone evaluation may improve the detection of trisomy 21 in the first trimester in an unselected obstetric population. Although numerically limited, our experience confirms that delayed nasal bone ossification (hypoplasia/absence of nasal bone) is rarely observed in chromosomally normal fetuses (1.4%). An appropriate training of operators is mandatory in order to achieve an acceptable performance.

Adolescent↗

Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report.

Prenatal diagnosis of short-rib polydactyly syndrome is possible and has been reported in literature, but a precise ultrasound diagnosis is not easy. We report a case in which three-dimensional ultrasound was used in the evaluation of the disorder. The contribution and potential application of three-dimensional sonography in the prenatal diagnosis of short-rib polydactyly syndrome and other fetal skeletal malformations is discussed.

Adult↗

Minor sonographic signs of trisomy 21 at 15-20 weeks' gestation in fetuses born without malformations: a prospective study.

A prospective study was performed on 2119 pregnancies that underwent genetic amniocentesis. Indications for amniocentesis were either maternal age (> or =35) or triple-test results (risk> or =1/380). The study covered a 36-month period and assessed the prevalence of minor ultrasound markers both in fetuses with Down syndrome and normal control fetuses at 15-19 week' gestation. Only fetuses with normal karyotype or trisomy 21 were considered. Six minor sonographic markers were considered: nuchal thickness, pyelectasia, femur observed/expected and humerus observed/expected ratios, bowel echogenicity, and choroid plexus cysts. One or more ultrasound soft markers were present in 23 out of 33 fetuses with Down syndrome (70%) and in 572 out of 2069 normal fetuses (28%).

Amniocentesis↗

Identification of anthocyanins in berries by narrow-bore high-performance liquid chromatography with electrospray ionization detection.

Qualitative determination of anthocyanins in extracts of red fruits by narrow-bore HPLC/ESI-MS was carried out. This method was used to investigate anthocyanin contents of black bilberry (Vaccinium myrtillus L.), blackberry (Rubus sp.), and mulberry (Morus nigra). An ultraviolet diode array and a mass spectrometer with ESI source were used for detection. Anthocyanin identifications were made by using retention time data and UV-vis and mass spectra and comparing them with those of commercially available standard compounds. The method allowed the identification of fourteen anthocyanins in black bilberry extract, six anthocyanins in blackberry extract, and five anthocyanins in mulberry extract.

Anthocyanins↗

Determination of anthocyanins in blood orange juices by HPLC analysis.

Determination of anthocyanins in fresh and concentrated juices can be a parameter for the assessment of authenticity and quality of blood orange juices. This work reports an HPLC/UV-Vis method developed for quantitative determination of anthocyanins in blood orange juices, by using a calibration curve obtained for standard cyanidin-3-glucoside. Samples analysed have been obtained from fruits of different trees (one for each of the varieties: 'Moro', 'Tarocco', 'Sanguinello' and 'Sanguinello nocellare') harvested about every 15 days during the 1998 productive season. Seasonal variation has been also evaluated. HPLC results were compared with spectrophotometric measurements, using a calibration curve obtained for cyanidin-3-glucoside solutions. The two methods showed good agreement, but the results obtained greatly differed with the data reported in the literature.

Anthocyanins↗

Anomalies of the fetal venous system: a report of 26 cases and review of the literature.

OBJECTIVE: To evaluate sonographic appearance, natural history, and neonatal outcome of fetal venous anomalies. METHODS: We performed an observational study, including all fetuses affected by abnormalities of the venous system diagnosed by ultrasound during the prenatal period. RESULTS: 26 fetuses were identified. Other malformations were present in 5 cases (19.2%), 1 fetus had trisomy 21, and 1 fetus had intrauterine growth retardation (IUGR). Twenty-five pregnancies ended in liveborn infants, and there was 1 case of unexplained intrauterine death in the fetus with IUGR affected by varix of the umbilical vein. CONCLUSIONS: Fetal venous anomalies are very rare and may be associated with fetal malformations or IUGR. Conservative management appears to be an adequate medical practice in the absence of other fetal problems, but in the presence of a varix of the umbilical vein, serial follow-up scans are needed to exclude the onset of hydrops or thrombosis of the varix.

Abnormalities, Multiple↗