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Marco Liberati

Publications and source records attributed to Marco Liberati.

10 recordsLinked to original sources
PubMed2006

Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

Abnormalities, Multiple↗
PubMed2006

Prenatal diagnosis of septal agenesis with normal pituitary function.

Septal agenesis is a rare brain malformation that is characterized by partial or complete absence of the septum pellucidum, either isolated or associated with other brain anomalies. We report a case presenting with septal agenesis and normal optic chiasm and pituitary function in a fetus at 19 weeks of gestation.

Abnormalities, Multiple↗
PubMed2005

Classical lissencephaly associated with dolichocephaly, hair and nail defect.

We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition.

Brain Diseases↗
PubMed2005

Serological testing for celiac disease in women undergoing assisted reproduction techniques.

BACKGROUND: The assertion of a causal relationship between celiac disease and infertility is suggested by several lines of research. Nevertheless, robust evidence has not yet been provided. The present study evaluated, for the first time, the prevalence of celiac disease in women undergoing assisted reproduction techniques (ART). METHODS: Serum samples from 200 Italian women undergoing ART were evaluated for celiac disease by endomisium antibody (EMA) and transglutaminase antibody (t-TGA)-two highly sensitive and specific serological markers. Two hundred women not reporting reproductive problems and having delivered at least one child served as controls. In cases of positive serology, the diagnosis was confirmed by jejunal biopsy. RESULTS: Five (2.5%) women from the study group and two (1.0%) from the control group were found to have celiac disease (P = 0.44). The main indications for ART in women found to have celiac disease were tubal factor in two cases and male infertility in three cases. None of these women reported major gastrointestinal complaints. Extra intestinal signs linked to celiac disease were noted in four out of five patients. CONCLUSION: This study raises the issue of celiac disease screening in ART programmes. Given the available evidence in the literature combined with our observations from this study, the value of serological testing for celiac disease in infertile women remains uncertain. Further studies to address this issue are required.

Adult↗
PubMed2005

Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly.

OBJECTIVE: Isolated elevations in midtrimester maternal serum human chorionic gonadotrophin concentrations (MShCG) have been reported to be associated with a substantially increased likelihood of fetal congenital malformations. The reported malformations included a wide range of organ systems, originating at different embryologic developmental stages. The purpose of our study was to determine the significance of an isolated elevated MShCG (>2.5 MoM) in midtrimester for the detection of fetal structural anomalies in a large population. METHODS: Among 10,144 women who underwent a biochemical triple screen at 15 to 18 weeks' gestation, 463 patients, who had an elevated MShCG, but normal alpha-fetoprotein (AFP) and unconjugated estriol (uE3) levels, were identified. Patients with an integrated calculated Down syndrome risk above 1:250 were excluded. Only nonsmokers, at ages <35 years, without a history of prior fetal anomalies were included. The control group consisted of 463 patients with normal serum analyte concentrations and Down syndrome risks below 1:250, who were matched for maternal age and date of biochemical screen. All patients underwent a detailed genetic sonogram in which an anatomic survey and multiple 'soft markers' for aneuploidy were looked for. Newborns were examined by a senior pediatrician trained in dysmorphology. RESULTS: MShCG levels were 3.18 +/- 0.72 versus 0.99 +/- 0.43 MoM (p < 0.0001) in study and control groups respectively. Sonography revealed 8 versus 6 cases of major congenital anomalies among the 463 patients of their respective groups, and 39 versus 36 sonographic 'soft markers' for aneuploidy. Fetal karyotyping and neonatal examination for dysmorphology revealed 6 chromosomal anomalies (4 Down syndrome; 2 Turner syndrome) among the 8 major malformations in the study group, but none in the controls (p < 0.0001). Three of the 39 fetuses with 'soft markers' and elevated MShCG were found to have trisomy 21. CONCLUSION: Isolated elevation of MShCG does not confer an increased risk of fetal congenital anomalies other than chromosomal abnormalities. However, elevated MShCG levels in combination with sonographic 'soft markers' for aneuploidy were associated with a high incidence of chromosomal anomalies, despite a normal biochemical triple screen risk estimate.

Adult↗
PubMed2005

Comparison of transvaginal sonography with digital examination and transabdominal sonography for the determination of fetal head position in the second stage of labor.

OBJECTIVE: Precise determination of fetal head position in labor is a prerequisite for safe instrumental deliveries, and essential for the assessment of labor progress. Recent studies have cast serious doubts on the accuracy of the time-honored digital vaginal examination (DVE) in comparison to transabdominal ultrasound scans (TUS). However, transabdominal imaging is technically difficult with a deeply engaged fetal head in the second stage of labor. We examined the accuracy and time requirements of transvaginal scans (TVS) in the second stage of labor for determination of fetal head position. STUDY DESIGN: Sixty laboring women in the second stage of labor with a deeply engaged fetal head were examined by experienced nurse midwives and senior residents. Fetal head position was recorded as "time on a 12-hour clock." Subsequently, TUS and TVS were independently performed by a skilled sonographer. Accuracy and time requirements for all 3 examinations were recorded. RESULTS: Fetal head position could be determined in all cases by TVS, but not in 7 cases and 9 cases by DVE and TUS, respectively (P < .03; P < .008). A discrepancy of 60 degrees or more between the DVE and TUS or TVS was found in 13/60 cases (21.7%) and 14/60 cases (23.3%), respectively. A > or = 90 degrees discrepancy was found in 9/60 cases (15%) and 12/60 cases (20%), respectively (P < .02 for comparison of TUS and TVS). In 5 cases, the digital examination erroneously perceived an occiput posterior position as occiput anterior. No significant differences in fetal head position were detected between TUS and TVS, when the examination was technically feasible. The mean time (+/-SD) required for determining fetal head position was shortest for TVS (8.7 +/- 5.8 seconds) in comparison to DVE (22.7 +/- 14.6 seconds; P < .0001) or TAS (31.7 +/- 19.1 seconds; P < .0001). CONCLUSION: Transvaginal sonography was the most successful and accurate method for determination of fetal head position in the second stage of labor, and required the least time for performance. We believe that TVS should be routinely performed in the labor room setting for the determination of fetal head position.

Abdomen↗
PubMed2005

Beat-to-beat estimate of fetal cardiac time intervals using magnetocardiography: longitudinal charts of normality ranges and individual trends.

BACKGROUND: Fetal magnetocardiography (fMCG) records fetal cardiac electro-physiological activity during the second half of gestation. We aimed at assessing normality values, related variability, and trends of fetal cardiac time intervals (fCTI) evaluated longitudinally from beat-to-beat fMCG analysis in uncomplicated pregnancies. MATERIALS AND METHODS: The fMCG were recorded with multi-channel system in shielded room. FCTI were estimated on more than 2600 fetal cardiac cycles from 51 fMCG data sets of uncomplicated pregnancies. Independent component analysis (ICA) allowed reconstructing reliable fetal signals for beat-to-beat identification of fCTI (RR, P wave, PQ, PR, QT, QTc, QRS, ST, and T wave); intra-individual variability analysis and trends were calculated; reference longitudinal charts accounted for intra- and inter-individual variations and were compared with figures estimated on averaged signals. RESULTS: For each data set, fCTI were calculated beat-to-beat on rhythm strips of more than 50 beats (95% overall detection rate). FCTI values, variability, and trends were in good agreement with available reference figures; intervals related to P and T waves were, respectively, underestimated and overestimated with respect to those estimated on averaged signals or obtained by other research groups. Errors were reduced and individual trends could be drawn. CONCLUSIONS: ICA permitted the reconstruction of reliable time course of fetal cardiac signals and the beat-to-beat calculation of time intervals, and normality ranges, with smaller errors with respect to previous studies. The retrieval of fetal traces with clear morphology and the longitudinal character of the study allowed estimating individual trends and beat-to-beat characterization, impossible with cross-sectional studies on averaged beats.

Adult↗
PubMed2004

Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy.

OBJECTIVE: Nonseptated cystic hygromata of the fetal neck in midtrimester of pregnancy have been associated with chromosomal and structural malformations. Consequently, fetal karyotyping is frequently offered. We describe 18 families in which 18 pairs of siblings were affected by transient nonseptated cystic hygromata in utero. METHODS: Over a seven-year period, 18 families came to our attention, with a recurrent diagnosis of fetal nonseptated cystic hygromata in two subsequent pregnancies. Detailed anatomic surveys by transvaginal ultrasound were performed between 14 to 16 weeks' gestation on the basis of self-referral. Sonographic markers for fetal aneuploidy were specifically looked for. Nonseptated cystic hygroma was diagnosed when unilateral or bilateral cystic dilations in the anterolateral aspect of the fetal neck were present, as described by Bronshtein et al. (1989). All patients underwent amniocentesis, fetal echocardiography, and transabdominal follow-up ultrasound scan at 22 to 24 weeks' gestation. RESULTS: Thirty-six sibling fetuses with isolated nonseptated hygromata (unilateral n = 5; bilateral n = 31) were identified. Amniocentesis revealed normal karyotypes in all 36 fetuses, including 20 males and 16 females. Fetal echocardiograms and neonatal pediatric examinations were normal. Sonographic resolution of the cystic hygromata was noted in all cases at the 22 to 24 weeks' follow-up scan. One pregnancy, producing a female newborn, was conceived by a remarried mother. All others were reportedly conceived by the same partners. Probability calculations suggest that if our findings were explained by chance alone, a population base of 367,000 pregnancies would have to be scanned in order to find 18 pairs of siblings with nonseptated cystic hygromata. CONCLUSION: The familial occurrence and identical natural history of the cystic lesions in utero suggest the presence of an inheritable developmental syndrome affecting the lymphatic system in utero, but without long-term sequelae.

Adult↗
PubMed2004

Characterization of fetal arrhythmias by means of fetal magnetocardiography in three cases of difficult ultrasonographic imaging.

Characterization of ultrasound detected fetal arrhythmias is generally performed by means of M-mode and pulsed Doppler echocardiography (fECHO), sonographic techniques that allow only indirect and approximate reconstruction of the true electrophysiological events that occur in the fetal heart. Several studies demonstrated the ability of fetal magnetocardiography (fMCG) to identify fetal arrhythmias. We report on three women, studied after the 32nd gestational week, who were referred for fMCG because of unsatisfying fetal cardiac visualization with fECHO due to maternal obesity, fetus in constant dorsal position hiding the fetal heart, intrauterine growth retardation, and oligohydramnios. Minor pericardial effusion was present in the third patient and digoxin therapy was given. FMCG were recorded with a 77-channel MCG system working in a shielded room. Independent Component Analysis (FastICA algorithm) was used to reconstruct fetal signals. The good quality of the retrieved fetal signals allowed real-time detection of arrhythmias and their classification as supraventricular extrasystoles (SVE), with/without aberrant ventricular conduction and/or atrioventricular block. The time course of the fetal cardiac rhythm was reconstructed for the entire recording duration; hence, fetal heart rate variability could be studied in time and frequency. Since isolated extrasystoles may progress to more hazardous supraventricular tachycardias, the noninvasive antenatal characterization of, even transient, fetal arrhythmias and their monitoring during pregnancy can be of great clinical impact.

Adult↗