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Biomedical subjects

Claudio Celentano

Publications and source records attributed to Claudio Celentano.

10 recordsLinked to original sources

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↗

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↗

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↗

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↗

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↗

Oral misoprostol vs. vaginal gemeprost prior to surgical termination of pregnancy in nulliparae.

BACKGROUND: To compare the efficacy and side-effects of intravaginal gemeprost with those of oral misoprostol for cervical ripening prior to first-trimester pregnancy termination in nulliparous women. METHODS: Retrospective analysis of surgical terminations of pregnancy performed before 90 days of gestation. Intravaginal gemeprost 1 mg or oral misoprostol 800 micro g was administered 2 h before the procedure. RESULTS: In total, 746 women were enrolled into the study, 84 received intravaginal gemeprost and 662 oral misoprostol. Median baseline cervical dilatation was significantly greater in women who received misoprostol before the operation than in those who received gemeprost (7 mm vs. 3 mm; p < 0.0001). The incidence of fever, vomiting and diarrhea was not different between the two groups. The incidence of abdominal pain with request for pain medication, emergency admission to operating room due to vaginal bleeding, hospital stay longer than 24 h and surgical repair of cervical injury due to Hegar dilatation was significantly higher among the gemeprost group than the misoprostol group. CONCLUSIONS: In cervical priming prior to first-trimester pregnancy termination in nulliparous women, oral misoprostol is more effective and is associated with fewer side-effects and complications than intravaginal gemeprost.

Abortifacient Agents, Nonsteroidal↗

Early resolution of increased nuchal translucency in a fetus with trisomy 18.

The normal timing for first-trimester nuchal translucency screening of aneuploidies is 10 to 14 weeks' gestation. We describe a fetus with trisomy 18 that presented at 11 weeks with increased nuchal thickness. Reevaluation at 12 and 13 weeks showed early return to normal of the increased nuchal measurement.

Adult↗

Effect of betamethasone administration on fetal heart rate tracing: a blinded longitudinal study.

OBJECTIVE: Computerized fetal heart rate (FHR) analysis revealed that antenatal corticosteroids transiently suppress multiple parameters of fetal well-being, potentially leading to the erroneous diagnosis of fetal distress and to unnecessary iatrogenic delivery of premature infants. Our aim was to determine whether clinicians who visually analyze FHR tracings detect these suppressive effects, thereby potentially affecting their clinical management decisions. METHODS: Singleton pregnancies admitted for preterm labor between 26 and 34 weeks' gestation received two doses of betamethasone, 24 h apart, and were monitored daily between 16:00 and 19:00 h for 5 days. FHR tracings were randomly coded and presented in a non-consecutive order to four clinicians, who were unaware of the time of steroid administration. FHR baseline, FHR variability, number of accelerations and amplitude of maximal FHR acceleration were determined. Variability was scored semiquantitatively based on a modified Hon score. Analysis of variance (ANOVA) with repeated measures was used for primary analysis and followed up with the Wald test of significance. Corrections for multiple comparisons were made and only p < 0.005 considered significant. ANOVA was also used to assess the uniformity of trend in the interpretation by the four examiners for each given day. RESULTS: Baseline FHR was elevated, FHR variability was decreased, and the number of accelerations decreased on day 1 (p < 0.0001; p < 0.0001; p < 0.0001) and day 2 (p > 0.0001; p < 0.0001; p < 0.0001) in comparison to day 0. On day 3, the FHR baseline, variability and number of accelerations returned to pre-exposure values (p = NS). The maximal amplitude of FHR accelerations showed a trend towards reduction (p = 0.08). Subgroup analysis by gestational age (group I = 26-30 weeks and group II = 30-34 weeks) showed the same response patterns and significance levels for both groups. CONCLUSIONS: Betamethasone causes profound, but transient, suppression of FHR parameters, which can mimic fetal distress. This effect is clinically recognized by visual FHR analysis. Clinicians need to be aware of this phenomenon, in order to avoid unwarranted iatrogenic delivery.

Anti-Inflammatory Agents↗