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Biomedical subjects

G Monni

Publications and source records attributed to G Monni.

At least 19 recordsLinked to original sources
PubMed2006

Intracardiac Doppler assessment of left valve inflow in first-trimester fetuses with increased nuchal translucency: preliminary observations in trisomy 21.

OBJECTIVES: To perform a qualitative assessment of the pulsed Doppler waveform profile at the level of left atrioventricular valve inflow in first-trimester fetuses with increased nuchal translucency thickness (NT), in order to compare those with trisomy 21 and those with normal karyotype. METHODS: This was a review of 285 consecutive fetuses with increased NT. Pulsed Doppler velocity waveforms of left atrioventricular valve inflow were recorded. The E-wave, A-wave and velocity profile in the aorta were displayed. Cases were classified into two patterns: Pattern A included those in which the E-wave velocity crossed the A-wave before the baseline in all waveforms; Pattern B included those in which the lowest E-wave velocity crossed the baseline but not the A-wave in at least one of the profiles. The karyotype was determined and the frequency of occurrence of Patterns A or B in fetuses with normal karyotype and those with trisomy 21 were compared. RESULTS: Of the 285 cases, 230 were assigned to Pattern A and 55 to Pattern B. There were 47 cases of trisomy 21, 22 had other chromosomal abnormalities, and 212 had a normal karyotype; in four cases the karyotype was unknown. Among the 212 karyotypically normal fetuses, five had heart defects, five had other structural defects, three suffered spontaneous intrauterine death and one was terminated. Pattern A was found in 200/212 (94.3%) cases with normal karyotype, in 12/47 (25.5%) cases with trisomy 21, and in 17/22 (77.3%) cases with other chromosomal abnormalities. Pattern B was found in 12/212 (5.7%) cases with normal karyotype, in 35/47 (74.5%) cases with trisomy 21 (chi-square test, P < 0.001), and in 5/22 (22.7%) cases with other chromosomal abnormalities. CONCLUSIONS: Intracardiac Doppler qualitative assessment of left valve inflow in first-trimester fetuses with increased NT shows differences between normal and trisomy 21 fetuses, probably reflecting differences in myocardial function.

Adult↗
PubMed2004

Safety of azamethiphos in eel, seabass and trout.

The safety of azamethiphos (AZA), an organophosphorous insecticide and the active ingredient of Salmosan, was evaluated in the European eel, seabass and rainbow trout. Fish were bathed in 0.1 ppm AZA for a period of 60, 120 or 240 min. After termination of each treatment fish were transferred to clean aquaria and randomly sampled over 21 days. Compared to controls, brain acetylcholinesterase (AChE) was inhibited up to 44, 56 and 62% in eels, seabass and trout, respectively, with the inhibition being significant for up to 4 days in eels and seabass and 7 days in trout. As result of the AChE depression, fish displayed motor hyperactivity and erratic jumping at the onset of treatment. Mortality was observed only in trout following exposure for 240 min. A variable correlation observed among species between the level of exposure, the reduced activity of brain AChE and the signs of toxicity suggest that brain AChE should be considered as an indicator of exposure rather than as an index of toxicity of AZA. The present data indicate that at the therapeutic dosage of 0.1 ppm AZA for 1h can be safely used in eels, seabass and trout. The extended treatment times up to 240 min were equally safe for eels and seabass but not for trout.

Acetylcholinesterase↗
PubMed2004

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

Fetal nucleated red blood cells (FNRBCs) circulate in the maternal blood throughout pregnancy. Even if the frequency of fetal cells in the maternal circulation remains to be ascertained, complications of pregnancy such as fetal cells aneuploidies, preeclampsia, abnormal Doppler of the uterine artery without symptoms of preeclampsia, fetal growth restriction and polyhydramnios are associated with an increased feto-maternal trafficking. Based on these observations, previous studies have suggested that determination of the fetal nucleated red blood cell count (FNRBCC) might be a useful non-invasive screening test, either alone or in combination with existing maternal tests, for the non-invasive assessment of aneuploidies, in particular Down syndrome (DS). In this paper we have evaluated the distribution of FNRBCC in a set of 18 normal pregnancies and 18 pregnancies with a trisomy 21-affected fetus, matching for gestational age, maternal age, and, when possible, fetal gender, in order to quantify the difference in the number of fetal cells between the two populations. Maternal blood was collected from each pregnant woman two to three weeks after amniocentesis after knowing the cytogenetic results. Correlation of FNRBCC with the gestational week and clinical status (affected vs. non affected) by multiple regression analysis provided significant results (p < 0.001). Adjusted values of FNRBCC were 48 +/- 10.2 in controls and 301 +/- 17.01 in DS cases, corresponding to a 6.27 fold increase. These retrospective results prompt a prospective evaluation of the use of FNRBCC for screening purposes.

Adult↗
PubMed2002

Antigenicity of Pseudodactylogyrus anguillae and P. bini (Monogenea) in the European eel (Anguilla anguilla, L.) under different oxygenation conditions.

The antibody response of European eels (Anguilla anguilla, L.) to the branchial parasites Pseudodactylogyrus anguillae and P. bini under hyperoxygenation conditions was studied. The antigenic fractions of parasites were detected by means of electrophoretic techniques (SDS-PAGE) and by Western blot analysis. The results obtained demonstrate that under hyperoxygenation conditions, the eels responded to a greater number of proteins, and this was correlated with a decrease in the level of infestation.

Anguilla↗
PubMed2002

Twin pregnancy achieved through TESE in an adult male exstrophy.

Bladder exstrophy is a rare anomaly, it compromises bladder functions, and in males it occurs with an impairment of reproductive functions, because of erectile and ejaculatory deficit. Advancements in the surgical treatment of bladder exstrophy have allowed an improvement of the bladder functions while spontaneous conception is still impaired. This is a case report of a pregnancy and subsequent birth of twins following testicular sperm extraction, on a man born with classical bladder exstrophy with infertility due to an ejaculation.

Adult↗
PubMed2001

Prenatal sonographic diagnosis of Klippel-Trénaunay-Weber syndrome with cardiac failure.

This report describes the prenatal sonographic diagnosis of a case of Klippel-Trénaunay-Weber syndrome. The sonographic appearance of this disorder was characterized by the presence of multiple distorted cystic areas involving the right leg and abdomen and cardiomegaly with early fetal heart failure. Despite the prenatal detection of the extensive cutaneous and visceral involvement, the infant died soon after birth of high-output cardiac failure and Kasabach-Merritt syndrome.

Abdomen↗
PubMed2001

Nuchal translucency and the acceptance of invasive prenatal chromosomal diagnosis in women aged 35 and older.

OBJECTIVE: To investigate the effect of nuchal translucency screening on use of prenatal diagnosis for chromosomal abnormalities in women aged 35 and older. METHODS: Two groups of women, referred to our center for prenatal karyotype diagnosis because of maternal age, were compared: one in 1995 and the other in 1999 after the introduction of nuchal translucency measurement. Each woman received nondirective genetic counseling, and for the 1999 group, nuchal translucency results were also discussed. Risks of transabdominal chorionic villi sampling (CVS) and amniocentesis, laboratory techniques, genetic results, and local experiences were discussed. Patient's decision to undergo prenatal diagnosis, acceptance of the nuchal translucency test (in the 1999 group), and the rate of chromosomal abnormalities diagnosed by transabdominal CVS and amniocentesis, were considered. RESULTS: Two hundred twenty-one of 982 (22%) women in the 1995 group and 421 of 1386 (30%) in the 1999 group, after nondirective genetic counseling declined invasive diagnosis (P <.05). In the 1999 cohort, 1088 of 1089 (99.9%) women of appropriate gestational age had nuchal translucency measurement. Among women seen in 1995, 214 opted for transabdominal CVS (31%) and 476 (69%) for amniocentesis. Nineteen abnormal karyotypes were detected, six by transabdominal CVS and 13 (68.5%) by amniocentesis. In 1999, 266 women (29%) opted for transabdominal CVS and 650 (71%) for amniocentesis. Twenty abnormal karyotypes were detected, 13 (65%) by transabdominal CVS and seven (35%) by amniocentesis (P <.05). CONCLUSION: Knowledge of nuchal translucency could lead to a decrease in the demand for invasive diagnosis and to a more frequent diagnosis by first-trimester transabdominal CVS.

Abortion, Therapeutic↗
PubMed2001

Fetal nuchal translucency screening in 12495 pregnancies in Sardinia.

OBJECTIVE: To examine the distribution of fetal nuchal translucency thickness in normal and chromosomally abnormal fetuses in Sardinia and to determine the effectiveness of screening by a combination of fetal nuchal translucency and maternal age. METHODS: Fetal nuchal translucency thickness and crown-rump length were measured at 10-14 weeks of gestation in 12 495 pregnancies. A reference range of fetal nuchal translucency thickness for crown-rump length was determined from the 10 001 singleton pregnancies with known normal pregnancy outcome. The median nuchal translucency thickness for crown-rump length was determined by regression analysis of the calculated median values of nuchal translucency thickness for each 0.1 mm interval in crown-rump length. The proportions of unaffected fetuses and those with trisomy 21 or other chromosomal defects with nuchal translucency thickness > 1.5 and 2.0 multiples of the regressed normal median for crown-rump length were calculated. The distribution of estimated risks based on maternal age and fetal nuchal translucency thickness according to The Fetal Medicine Foundation software were also determined and the sensitivity and false-positive rates were calculated. RESULTS: In the 10 001 normal pregnancies, the median fetal nuchal translucency thickness increased with crown-rump length (median nuchal translucency thickness = 0.3496 + 0.018 x crown-rump length) (r2 = 0.4411). In the singleton pregnancies, there were 64 fetuses with trisomy 21 and 46 with other chromosomal defects. The fetal nuchal translucency thickness was > 1.5 multiples of the median in 510 (5%) of the normal fetuses, in 52 (81%) of the trisomy 21 fetuses and in 33 (72%) of those with other chromosomal defects. The respective values for nuchal translucency thickness > 2.0 multiples of the median were 195 (2%), 41 (64%) and 32 (70%). In 184 multiple pregnancies, there were four fetuses with chromosomal abnormalities and in three of these the nuchal translucency thickness was > 1.5 multiples of the median. Screening by a combination of maternal age and fetal nuchal translucency thickness with a risk cut-off of 1 in 300 identified 90% of trisomy 21 pregnancies and 85% of all other chromosomal defects for a false-positive rate of 9%. CONCLUSION: Screening for chromosomal defects by measurement of nuchal translucency thickness identifies 80% of fetuses with trisomy 21 for a false-positive rate of 5%. In our population with a median maternal age of 33 years, screening by a combination of maternal age and fetal nuchal translucency thickness with a risk cut-off of 1 in 300 identified 90% of trisomy 21 pregnancies for a false-positive rate of 9%.

Crown-Rump Length↗
PubMed2000

First trimester umbilical artery pulsatility index in fetuses presenting enlarged nuchal translucency.

The aim of this prospective study was to evaluate an umbilical artery pulsatility index (UAPI) in first trimester fetuses who present enlarged nuchal translucency (NT) measurements. UAPI was measured in 121 single fetuses with NT > or =95th centile, from 10+3 to 13+6 weeks (crown-rump length (CRL) > or =38 mm - < or =84 mm). In these fetuses there were 20 trisomy 21, and six other chromosomal abnormalities (three trisomy 18 and three monosomy X). Eighty-nine cases had normal karyotype and delivered a baby without evidence of congenital malformations. Five fetuses with normal karyotype assessed antenatally were excluded from the comparison, because of evidence of congenital malformation. A fetus with normal karyotype that was spontaneously miscarried at 14 weeks' after chorionic villus sampling was also excluded. UAPI of fetuses with enlarged NT was compared with those of 65 singleton fetuses with normal NT and normal karyotype, which were used to establish our terms of reference (5th centile, median and 95th centile). UAPI of 7/20 (35%) Down syndrome and 42/89 (47%) normal karyotype fetuses presenting enlarged NT were above the median, and respectively 2/20 (10%) and 14/89 (15.7%) were above 95th centile of normal NT and normal karyotype fetuses. No significant differences were demonstrated in the UAPI values amongst normal karyotype fetuses with normal NT or normal karyotype fetuses with an enlarged NT or trisomy 21 fetuses with an enlarged NT.

Adult↗
PubMed2000

Prenatal ultrasound diagnosis of congenital cystic adenomatoid malformation of the lung: a report of 26 cases and review of the literature.

OBJECTIVES: To evaluate the sonographic appearances and prenatal natural history of congenital cystic adenomatoid malformation of the lung. METHODS: In each case a detailed examination of the thoracic lesion and a complete fetal survey was performed. The pregnancies that elected to continue were followed to term. RESULTS: A total of 26 cases were identified. The pregnancy was electively terminated in nine cases (35%). All the remaining 17 pregnancies ended in liveborn infants (100%). The lesion disappeared completely in three fetuses (18%). Of the 14 infants in whom the lesion was confirmed at birth nine required surgery in the neonatal or post-natal period. Five children did not undergo surgery. CONCLUSIONS: Conservative management appears to be an adequate medical practice in cases of isolated congenital unilateral cystic adenomatoid malformation of the lung, in the absence of hydrops and/or acute polyhydramnios.

Adult↗
PubMed2000

Transient hyperechogenicity of the fetal pericardium: a case report.

An unusually echogenic fetal pericardium was visualized using ultrasound at 21 weeks' gestation. Serial prenatal examinations revealed its progressive, spontaneous resolution. Follow-up examinations of the newborn and infant failed to demonstrate any clinical or echocardiographic abnormality. The occurrence of this unusual pericardial abnormality and its transient nature should be considered during sonographic examination of the fetus.

Adult↗
PubMed2000

Nuchal translucency in multiple pregnancies.

AIM: To evaluate the prevalence of increased nuchal translucency (NT) in multiple pregnancies and its relation to fetal karyotype and pregnancy outcome. METHODS: We measured fetal nuchal translucency (NT) in 6,338 women pregnant from 10+3 to 13+6 weeks by ultrasound and evaluated the prevalence of NT=95th centile in 115 multiple pregnancies, including 100 pairs of twins (70 dichorionic and 30 monochorionic placentas), 9 triplets, 5 quadruplets, and one quintuplet. Chorionicity, fetal karyotype, and pregnancy outcome were also evaluated in 400 singleton pregnancies. RESULTS: NT=95th centile in a single fetus was found in 10/70 cases of dichorionic twin pregnancies (14%), in two quadruplets, in 7/30 monochorionic twin pregnancies (23.3%), and in both fetuses in one dichorionic twin pregnancy. In the control group, NT=95th centile was found in 17/400 (4.2%) cases. In multiple pregnancies, two cases of trisomy 21 and one of 47, XXY were found. NT=95th centile was found in 2/2 fetuses with trisomy 21 (one dichorionic twin pregnancy and one tetrachorionic pregnancy), but not in the 47, XXY trisomy (trichorionic triplet pregnancy). A skeletal dysplasia and a Goldenhar syndrome were found among the 10 dichorionic pregnancies with increased NT. Three intrauterine deaths of both fetuses, one congenital heart disease, and a case of twin-to-twin transfusion occurred in 7 monochorionic pregnancies with increased NT. CONCLUSION: Increased NT in multiple pregnancies indicates fetuses at risk of chromosomal abnormalities and fetal malformation, and monochorionic twin pregnancies at higher risk of adverse outcome.

Adult↗
PubMed1999

Fetal nuchal translucency and prenatal diagnosis of beta-thalassaemia.

In Sardinia, fetal karyotyping for couples at risk for beta-thalassaemia is offered only to women >/=35 years and for specific risk of chromosomopathies. This policy is not easily accepted by the couples who incessantly request additional karyotyping. In order to select those at highest risk of chromosomal abnormalities among young women, fetal nuchal translucency (NT) thickness measurement was performed in 510 fetuses to assess the chromosomal risk before chorionic villus sampling. A risk >/=1/100 was judged positive and worthy of additional karyotyping. 126 cases interrupted the pregnancy after a result of homozygous beta-thalassaemia, hence 384 pregnancies were included in the study. 22 (5.7 per cent) fetuses were found NT positive. A total of three chromosomal abnormalities were detected. The NT test was positive in all three cases of chromosomopathies detected (100 per cent) and in 19 of 381 (4.98 per cent) normal karyotype fetuses. No features of major chromosomal abnormalities were reported among the newborns whose NT had resulted normal. These preliminary results have confirmed the efficacy of NT testing to assess the risk of trisomy 21 and other chromosomopathies and enhanced its utility in pregnancies already suited to sampling in the first-trimester for Mendelian disorders.

Adult↗