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Biomedical subjects

G Monni

Publications and source records attributed to G Monni.

At least 37 records · Page 2Linked to original sources
PubMed1999

[Fertilization in vitro and microinsemination. 6 years of experience in the Ospedale Microcitemico of Cagliari].

BACKGROUND: In this study the results of six years experience (1993-1998) in IVF, ICSI and assisted hatching on 442 sterile couples for a total of 868 cycles are reported. Since 1997 ICSI has also been carried out in cases of azoospermia extracting mobile spermatozoa from the epididymal (MESA) or from the testicle (TESE). METHODS: Ages ranged from 20 to 48 and mean years sterility was 5.868 cycles were carried out of which 153 (17.62%) were for IVF, 705 (81.22%) for ICSI and 10 (1.15%) for MESA and TESE. Assisted hatching was performed through "partial zona dissection" in 329 cases on a total of 987 embryos. RESULTS: The pregnancy rates per embryo transfer in IVF and ICSI cycles were 22.4 and 19.96% respectively. Results considering patients age were: 33.87% below 35, 29.55% between 35 and 38 and 6.60% above 38. In the group of 189 assisted hatching patients the evolutive pregnancy rate rose from 15.78 to 26.40% and multiple pregnancies from 28.63 to 42%. CONCLUSIONS: ICSI has offered high rates of fertilization and pregnancy even in extreme cases of oligoasthenospermia or cases of azoospermia adopting MESA or TESE techniques. A decisive factor on pregnancy rates is age, very low over 38 years. Assisted Hatching further increased the pregnancy rates.

Adult↗
PubMed1998

Can fetal iliac bone measurement be used as a marker for Down's syndrome screening?

OBJECTIVE: The aim of this study was to assess the application of iliac bone length measurement in screening for Down's syndrome. DESIGN: Measurement of fetal iliac bone length was prospectively carried out in 609 pregnant women at the time of amniocentesis, and correlated with the results of karyotype analysis. SUBJECTS: Following exclusion of cases with chromosomal abnormalities other than trisomy 21, cases with intrauterine growth impairment or structural abnormalities and cases with incomplete follow-up, 466 karyotypically normal fetuses and 14 fetuses with trisomy 21 were included in the analysis. METHODS: Centiles, standard deviations, expected values by means of linear regression analysis of the iliac bone, in relation to the biparietal diameter, were calculated in the normal fetuses. In order to identify pregnancies at risk for trisomy 21, where a 'longer' than normal iliac bone was expected, three cut-offs previously proposed by other authors and three new criteria were employed. Sensitivity, false-positive rate and likelihood ratio were calculated to assay the different cut-off criteria. RESULTS: Eleven of the 14 (79%) fetuses affected by trisomy 21 had an iliac bone length greater than the 50th centile of normal values. The most useful threshold was an iliac bone length > or = 2 SD of the normal (29% sensitivity and 2% false-positive rate). CONCLUSIONS: This study confirms that fetuses with Down's syndrome tend to have a longer iliac bone length measurement than those with normal karyotype. However, due to the different methods used in different centers, the application of this measurement does not offer sufficiently convincing results for it to be used when screening for Down's syndrome.

Adult↗
PubMed1998

In utero stem cell transplantation.

AIM: To investigate feasibility, safety, and efficacy of in utero transplantation of hemopoietic stem cells. METHODS: A 10-week fetus was found to have b-thalassemia major after prenatal diagnosis by chorionic villus sampling and DNA analysis. The couple asked for prenatal treatment and, after extensive genetic counseling and local Ethical Committee approval, CD34+ hematopoietic progenitor cells purified from paternal bone marrow were injected to the fetus intraperitoneally, under ultrasound guidance. RESULTS: A healthy 3.5 kg fetus was spontaneously delivered with no clinical or laboratory signs of graft-versus-host-disease. Analysis of the cord blood by high-pressure liquid chromatography revealed the absence of adult HbA, typical of b-thalassemic patients. Analysis of the Hb chain synthesis showed no clear signs of b-chain presence. CONCLUSIONS: In utero transplantation of hematopoietic progenitor cells was not successful for b-thalassemia. Caution should be taken when considering other applications than immunodeficiency diseases.

Adult↗
PubMed1997

Cerebro-costo-mandibular syndrome: early sonographic prenatal diagnosis.

In this case report the sonographic appearance of cerebro-costo-mandibular syndrome is described. Increased fetal nuchal translucency (at 11 weeks), micrognathia (at 12 weeks) and failure to ultrasound to identify the ribs (at 18 weeks) were revealed with serial scanning. These cardinal findings allowed the prenatal diagnosis of cerebro-costo-mandibular syndrome to be made at 18 weeks' gestation.

Abnormalities, Multiple↗
PubMed1996

A study on the distribution of Bothriocephalus andresi (Cestoda, Pseudophyllidea) in Citharus linguatula.

The distribution of Bothriocephalus andresi (Porta, 1911) in a population of Citharus linguatula (L.) caught off the Tuscan coasts was studied for one year. The negative binomial model proved useful for analysing the distribution of the parasite (B. andresi) in the host population. The ability of the parasite to adjust not only to its own environment but also to that of its host was clear, as it may be evinced from the greater amount of eggs and, hence, of larvae noticed in the period when there was abundance of plankton (high number of intermediate hosts). The balance achieved between host and parasite populations was also evident, and the modulation of the intensity of the infestation was such that it may be imputed to a greater immune response in the host.

Animals↗
PubMed1994

Umbilical artery velocity waveforms before and after chorionic villus sampling.

Because a vascular aetiology has been suggested for the limb and oromandibular defects described after chorionic villus sampling (CVS), to determine whether transabdominal (TA) CVS causes noticeable changes in umbilical artery velocity waveforms in first-trimester pregnancies, the pulsatility index (PI) of the umbilical artery was evaluated before and after TA-CVS in 175 pregnancies sampled between 10.0 and 13.0 weeks' gestation. In 139 uncomplicated pregnancies, the mean PI values (with 95 per cent confidence interval) were before TA-CVS 2.751 (2.692-2.809), after 10 min 2.723 (2.697-2.809), and after 1 h 2.781 (2.722-2.840). There were no significant changes in PI relative to the CVS procedure either in pregnancies with an abnormal result or in those ending in spontaneous abortion. Our data do not support any statistically significant change in umbilical artery PI relative to TA-CVS in first-trimester pregnancies. This procedure, despite its invasive character, does not appear to affect the feto-placental circulation.

Adult↗
PubMed1994

Improvement of prenatal diagnosis of Wilson disease using microsatellite markers.

This paper describes a case of prenatal diagnosis for Wilson disease (WD) carried out in an at-risk couple of Sardinian descent, following non-directive genetic counselling. Diagnosis was obtained by using eight microsatellites located within or flanking the WD locus, six of which were 100 per cent and two 50 per cent informative. The use of several markers may limit the occurrence of misdiagnosis resulting from recombination or instability of repeats.

Child, Preschool↗
PubMed1994

Psychological implications and acceptability of preimplantation diagnosis.

The aim of this study was to ascertain the degree of acceptability of preimplantation diagnosis with blastocentesis in 180 women at risk for beta-thalassaemia awaiting chorionic villus sampling (CVS). The women were asked to fill in a questionnaire some days before sampling. All women who had had previous therapeutic abortion found blastocentesis acceptable. Only 30% of women who had not had previous therapeutic abortion chose blastocentesis, whilst 25% of primigravid women opted for blastocentesis. From these preliminary data it seems that obstetric experience is an important factor in the reproductive choice of women at high genetic risk.

Adult↗
PubMed1993

Early transabdominal chorionic villus sampling in couples at high genetic risk.

OBJECTIVE: The purpose of the study was to evaluate the feasibility and safety of transabdominal chorionic villus sampling before 9 weeks' gestation. STUDY DESIGN: Two hundred pregnancies at risk for beta-thalassemia (n = 198) or Duchenne muscular dystrophy (n = 2) underwent transabdominal CVS at 6 through 8 weeks. Sampling success and fetal loss are expressed in percentages. RESULTS: Sampling was successful in all cases (100%). Forty-eight fetuses were affected by beta-thalassemia and one by Duchenne muscular dystrophy. The percentage of fetal loss, expressed as a proportion of continuing pregnancies, was 4.0%. All women (n = 144) have been delivered, and no misdiagnoses have occurred. We observed one anencephalus and one mild limb defect consisting of absence of distal phalanges of index and little fingers of both hands and distal phalanges of both little toes. CONCLUSION: Transabdominal CVS before 9 weeks is a reliable and relatively safe method for prenatal diagnosis in patients at high risk for genetic diseases. However, further studies are necessary to assess the risk to the fetus.

Adult↗
PubMed1992

Transabdominal chorionic villus sampling: fetal loss rate in relation to maternal and gestational age.

In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA-CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing gestational age at sampling from 4.3 per cent before 9 weeks to 0.4 per cent at or after 13 weeks, the difference being statistically significant (p < 0.025). The fetal loss rate increased from 1.6 per cent in women under 30 to 2.4 per cent in women of 40 years or over, but the difference was not statistically significant. Considering that the total fetal loss rate before 28 weeks' gestation was on average 1.91 per cent (1.3 per cent under 35 years and 2.8 per cent in women of 35 or over), we believe that TA-CVS is a safe and effective technique for prenatal diagnosis of genetic diseases.

Adult↗
PubMed1992

Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population.

This paper reports our experience of molecular screening and fetal diagnosis of beta-thalassemia in 457 at risk couples of Italian descent. Molecular screening was carried out by dot blot analysis on amplified DNA with oligonucleotide probes complementary to the eight most common mutations in Italians [beta zero 39 (C----T); beta zero 6 (-A); beta+ -87 (C----G); beta+ IVSI nt 110 (G----A); beta zero IVSI nt 1 (G----A); beta+ IVSI nt 6 (T----C); beta zero IVSII nt 1 (G----A); beta+ IVSII nt 745 (C----G)]. By using this approach, we have been able to define the mutation in 92.8% of cases. The rest (all but four) were defined by direct sequencing and this led to the detection of nine rare mutations [beta zero 76 (-C); beta+ IVSI nt 5 (G----A); beta+ IVSI nt 5 (G----C); beta+ IVSI -1 (cod 30) (G----C); beta+ -87 (C----T), beta zero -290 bp del.; beta+ -101 (C----T)], and to the characterization of a novel mutation consisting of the deletion of the G at the invariant AG of the IVSII splice acceptor site of the beta-globin gene (beta IVSII nt 850 -1 bp). In the remaining four cases, the beta-globin gene showed entirely normal sequences and the beta-globin gene cluster was intact, as indicated by Southern blot analysis. Fetal diagnosis was carried out by dot blot analysis with the oligonucleotide probes defined in the parents. The procedure is simple and reliable, and the results can be obtained within 1 week of sampling. No misdiagnosis has so far occurred. The results indicate that fetal diagnosis of beta-thalassemia by DNA analysis may be obtained in practically all cases (even in a population showing marked heterogeneity of beta-thalassemia) by the combination of dot blot analysis for detecting common mutations, and direct sequencing for defining those that are uncommon.

Base Sequence↗
PubMed1991

Early antenatal sonographic diagnosis of conjoined syncephalus-craniothoraco-omphalopagus twins. Case report.

The paper describes the prenatal ultrasonographic diagnosis of conjoined syncephalus-craniothoraco-omphalopagus twins at 13 weeks' gestation. The mother, after genetic counseling, decided to interrupt the pregnancy. The fetal karyotype, the maternal serum and amniotic fluid alpha-fetoprotein levels were normal. The diagnosis was confirmed by pathologic examination of the fetus after termination of pregnancy.

Adult↗
PubMed1990

Fetal hydrops in Sardinia: implications for genetic counselling.

This paper describes the first case of Hb Bart's hydrops fetalis syndrome in the Sardinian population. Despite the high frequency of a-thalassemia, fetal hydrops is extraordinarily rare in the Sardinian population because a-thalassemia is more usually the result of the single a-thalassemia globin gene deletion and is very rarely produced by the deletion of two a-globin genes. The fetus, the product of a consanguineous marriage at risk for beta-thalassemia, was monitored by chorionic villi DNA analysis which detected the heterozygous state for the codon 39 nonsense mutation. Follow-up ultrasound examination showed fetal hydrops, which led us to carry out further investigation. Hemoglobin and a-globin gene analysis on cord blood obtained by cordocentesis revealed the homozygous state for the most common deletion ao-thalassemia in Mediterranean populations. Retrospective evaluation of the father's hematological features showed very low MCH-MCV for a beta-thalassemia carrier which may indicate co-inherited a-thalassemia. These findings indicate that careful evaluation of red cell indices of parents at risk for beta-thalassemia and adequate consideration of the consanguinity may point to co-inherited a-thalassemia and lead to the appropriate analysis.

Chorionic Villi Sampling↗