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Biomedical subjects

G Cocchi

Publications and source records attributed to G Cocchi.

At least 19 recordsLinked to original sources
PubMed2006

Prenatal diagnosis of open and closed spina bifida.

OBJECTIVE: To identify criteria useful for differentiating closed from open spina bifida antenatally. PATIENTS AND METHODS: A retrospective study of cases of spina bifida diagnosed in a referral center between 1997 and 2004. RESULTS: Of 66 cases of fetal spina bifida diagnosed at a median gestational age of 21 (range, 16-34) weeks, detailed follow-up was available for 57. Of these, open defects were found in 53 (93.0%) and closed defects in four (7.0%). Closed spina bifida was associated in two cases with a posterior cystic mass with thick walls and a complex appearance, while in two cases the spinal lesion could not be clearly differentiated from an open defect, particularly at mid-gestation. Open spina bifida was always associated with typical alterations of cranial anatomy, including the so-called 'banana' and 'lemon' signs, while in closed spina bifida the cranium was unremarkable. When the data were available, levels of amniotic fluid alpha-fetoprotein were always abnormally elevated with open spina bifida and within normal limits with closed forms. CONCLUSION: In this study 7% of cases of spina bifida diagnosed in utero were closed. The differentiation between open and closed forms is best shown by the sonographic demonstration of abnormal or normal cranial anatomy.

Diagnosis, Differential↗
PubMed2003

Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy).

OBJECTIVES: Collection and assessment of data from the Emilia-Romagna Region on the occurrence of congenital heart defects in order to identify an homogeneous group of patients for further aetiologic and genetic studies. MATERIALS AND METHODS: The present study is based on 1549 stillborn and live born babies affected by congenital heart defect out of 330,017 consecutive births (4.7 per 1000). RESULTS: The frequency and type of congenital heart defects have been identified together with the sex ratio, associated extracardiac anomalies, chromosomal anomalies and the risk of precurrence in relatives. The impact of prenatal diagnosis on prevalence was low during the study period. CONCLUSIONS: The study has provided epidemiological data for public health surveillance of congenital heart defects in the Emilia-Romagna region. The creation of a system for the nationwide recording of congenital heart defects designed with regard to the sources of ascertainment, the diagnostic criteria, and the system of classification is emphasised.

Female↗
PubMed2000

Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems.

Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring. We pooled data from 11 birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring Systems. We identified 666 infants, born from 1983 through 1993, who had a non-syndromal limb defect plus at least one other major malformation (rate 12.9/100,000 population). We used observed/expected ratios and log-linear models to detect association patterns. We found that specific limb defects occurred with relatively distinct sets of malformations. Preaxial limb defects occurred more frequently with microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeleton defects; postaxial defects with hypospadias; transverse defects with craniofacial defects, micrognathia, ring constrictions, and muscular defects; intercalary defects with omphalocele; split hand/foot with encephalocele; and amelia with anorectal atresia, omphalocele, severe genitalia defects, unilateral kidney dysgenesis, gastroschisis, and ring constriction. Log-linear modeling identified higher order associations among some of these same malformations.

Cleft Palate↗
PubMed2000

Teratogenic effects of antiepileptic drugs: use of an International Database on Malformations and Drug Exposure (MADRE).

PURPOSE: The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use of a surveillance system (MADRE) of infants with malformations. METHODS: Information on all malformed infants (1990-1996) with maternal first-trimester drug exposure was collected by the International Clearinghouse for Birth Defects and Monitoring Systems (ICBDMS). Cases were defined as infants presenting with a specific malformation, and controls were defined as infants presenting with any other birth defect. Exposure was defined by the use of AEDs during the first trimester of pregnancy. The association of AEDs with malformations was then estimated by calculating the odds ratios with 95% confidence intervals and testing their homogeneity among registries. RESULTS: Among 8005 cases of malformations, 299 infants were exposed in utero to AEDs. Of those exposed to monotherapy, 65 were exposed to phenobarbital, 10 to methylphenobarbital, 80 to valproic acid, 46 to carbamazepine, 24 to phenytoin, and 16 to other AEDs. Associations were found for spina bifida with valproic acid. Infants exposed to phenobarbital and to methylphenobarbital showed an increased risk of oral clefts. Cardiac malformations were found to be associated with phenobarbital, methylphenobarbital, valproic acid, and carbamazepine. Hypospadias was associated with valproic acid. Porencephaly and other specified anomalies of brain, anomalies of face, coarctation of aorta, and limb reduction defects were found to be associated with valproic acid. CONCLUSIONS: Using the MADRE system, we confirmed known teratogenic effects of AEDs. We also found increased risks for malformations that had never been reported associated with AEDs or for which the association was suggested by case reports.

Abnormalities, Drug-Induced↗
PubMed2000

[Congenital cardiopathy in a data-based population].

Altogether 429.139 consecutive births were surveyed during the eighteen years study period by the Emilia-Romagna Registry. Among these, 2147 newborns with congenital heart defects (CHD) (prevalence 5 per 1000) were detected within the first week of life. There were 1607 isolated CHDs and 540 cases had other associated defects. During the study period an increase in prevalence/rate of CHDs was observed (from 3.1 per 1000 in 1980 to over 7 per 1000 in 1998), particularly isolated CHDs increased from 2.2 to 6 per 1000, while the prevalence rate of CHDs cases with other associated anomalies was constant ranging from 1 to 2 per 1000. The increase of isolated CHDs was due to the increased number of "minor" lesions such as ventricular (VSD) and atrial septal defect. The apparent increase in birth prevalence of CHD mainly results from improved diagnosis due to widespread use of color-doppler ecocardiography. As in other studies, a significant shift in the sex-ratio has been documented: a male predominance in transposition of great arteries, left hypoplastic heart and aortic stenosis (male/female ratio 2.2, 2.3, 4.5 respectively) were found; while VSD had a slight female excess (male/female ratio 0.96). The study confirmed that the majority of the affected parents were mothers. The recurrence risk of a cardiac defect in first degree relatives was 2.3%, while the recurrence risk of isolated conotruncal defects was 3.9%. Out of 47 cases with isolated conotruncal defects 4 had microdeletion of chromosome 22q11.2 and concerning the first degree relatives in one case the father had the deletion without CHD.

Female↗
PubMed1999

Congenital malformations in twins: an international study.

Data provided by nine registries based in European and Latin America countries were analyzed to assess whether there is an excess of malformations in twins compared to singletons. Specific congenital malformations were coded according to the ninth revision of the International Classification of Diseases (ICD). Malformation rates and rate ratios (RR) for twins compared to singletons were calculated for each registry, and the homogeneity of the RRs was tested using the test of Breslow and Day. If departure from homogeneity in the different registries was not significant, registry-adjusted RRs with 95% confidence intervals were calculated. Overall, among 260,865 twins, 5,572 malformations were reported. A total of 101 different types of malformations or groups of defects was identified, and a homogeneous estimate of the RRs among registries was found for 91.1% of the malformations. Thirty-nine of the 92 malformations with homogeneous estimates of RRs were more common in twins than in singletons. For the remaining nine malformations, heterogeneous estimates of RRs were obtained. This study confirms the majority of already known associations and further identifies previously unreported malformations associated with twins. In conclusion, there is an excess of malformations in twins compared with singletons, and all anatomical sites are involved. The number of specific malformations associated with twins is higher than that previously reported in smaller studies.

Congenital Abnormalities↗
PubMed1997

The spectrum of congenital anomalies of the VATER association: an international study.

The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry of infants with multiple congenital anomalies from 17 birth defects registries worldwide that are part of the International Clearinghouse for Birth Defects Monitoring Systems (ICB-DMS). Among approximately 10 million infants born from 1983 through 1991, the ICB-DMS registered 2,295 infants with 3 or more of 25 unrelated major congenital anomalies of unknown cause. Of these infants, 286 had the VATER association, defined as at least three of the five VATER anomalies (vertebral defects, anal atresia, esophageal atresia, renal defects, and radial-ray limb deficiency), when we expected 219 (P<0.001). Of these 286 infants, 51 had at least four VATER anomalies, and 8 had all five anomalies. We found that preaxial but not other limb anomalies were significantly associated with any combination of the four nonlimb VATER anomalies (P<0.001). Of the 286 infants with VATER association, 214 (74.8%) had additional defects. Genital defects, cardiovascular anomalies, and small intestinal atresias were positively associated with VATER association (P<0.001). Infants with VATER association that included both renal anomalies and anorectal atresia were significantly more likely to have genital defects. Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects. These results offer evidence for the specificity of the VATER association, suggest the existence of distinct subsets within the association, and raise the question of a common pathway for patterns of VATER and other types of defects in at least a subset of infants with multiple congenital anomalies.

Abnormalities, Multiple↗
PubMed1997

Differential diagnosis and outcome of fetal intracranial hypoechoic lesions: report of 21 cases.

Our objective was to evaluate the diagnostic and prognostic value of sonography hypoechoic lesions. A retrospective study revealed revealed a total of 21 cases diagnosed over a period of 10 years. Most of the diagnosis were made in the third trimester. The presence fluid-filled lesions within the brain matter always predicted porencephaly and a poor outcome. In most of these cases (nine out of ten), the lesions were seen to communicate with the cavity of the lateral ventricles. Among the 11 cases of hypoechoic lesions that were external to the brain matter, Doppler ultrasound was always able to distinguish between arachnoid cysts (seven cases) and vein of Galen aneurysms (four cases). Arachnoid cysts were associated with a good outcome in four out of the five pregnancies that delivered at term. Three of the four cases of vein of Galen aneurysm were associated with distortion of the cerebral architecture and/or hydrops: one pregnancy was terminated and two resulted in early postnatal death. One pregnancy with vein of Galen aneurysm and normal cerebral structures, without signs of hydrops, had a good outcome. It is concluded that current antenatal ultrasound has the capability of accurate differentiation between different clinical entities resulting in fetal intracranial hypoechoic lesions, and that the sonographic findings have practical clinical implications.

Arachnoid Cysts↗
PubMed1996

Urinary tract abnormalities (UTA) and associated malformations: data of the Emilia-Romagna Registry. IMER Group. Emilia-Romagna Registry on Congenital Malformations.

An epidemiological study on the urinary tract anomalies (UTA) associated with other congenital malformations or syndromes ascertained by the Emilia-Romagna Registry on Congenital Malformations (IMER) among 209,882 consecutive births monitored during the period 1981-1990 is presented. UTA were ascertained in 349 infants for a rate at birth of 16.6 per 10,000 total births, or one case for every 600 births. The occurrence rate of UTA increased significantly during the ten years of monitoring passing from 6.1 per 10,000 in 1981-1982 to 25.1 in 1989-1990 (r = 0.85; p < 0.001). This increase is in connection with a progressively higher notification of isolated cases of UTA, directly related to the impact of the prenatal diagnosis. Among the 349 cases, 106 (30.4%) were associated with other conditions, including 18 who had chromosomal aberrations (ChrA). The incidence in the total number of the ChrA registered was 43.6 per 1,000. Genetic syndromes (GS) in 33 cases with a specific rate of 150 per 1,000, and 55 cases of multiples with a specific rate of 205.2 per 1,000. In multiples we observed some preferential associations of UTA with intestinal defects and severe ear defects (p < 0.001) and for Central Nervous System and heart defects (p < 0.05). UTA are often associated with other extrarenal defects and sometimes are a component of syndromes that are difficult to identify and for which genetic implications are great and genetic counselling necessary. Pediatricians need to be aware of the possible involvement of the kidney in specific and rare syndromes, and pediatric nephrologists must recognize the association of renal diseases with abnormalities in other physiological systems.

Abnormalities, Multiple↗
PubMed1996

Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.

A three-generation BO family is presented: the proband showed, in addition to branchio-oto malformations, a severe condition with growth retardation, mandibular hypoplasia and vertebral anomalies resembling the oculo-auriculo-vertebral (OAV) phenotype. This family study supports the hypothesis of Rollnick and Kaye that the OAV spectrum may represent, in some cases, an extreme component of the BOR syndrome. The finding has relevant implications for genetic counselling regarding both conditions.

Abnormalities, Multiple↗
PubMed1995

Cerebrospinal fluid shunt infections in infants.

Infection remains a major cause of morbidity and mortality following CSF shunt procedures. In this study 191 shunt procedures carried out from January 1981 to December 1992 in a series of 81 infants (less than 6 months old) were retrospectively analyzed for possible risk factors. The overall surgical infection rate was 7.8%, with 15 infections occurring in 14 patients (17.2%). No significant difference in the rate of infections was found in relation to sex, birth weight, gestational age, and type of shunt procedure (primary insertion/revision). The occurrence of other infections during the period of shunt surgery did not influence the infection risk either. Intraventricular hemorrhage and central nervous system infections as causes of the hydrocephalus were found to correlate with septic risk. Young age (less than 6 months) seems to represent the main risk factor, and this is related both to the immunologic deficiency and to the particular features of residential bacterial flora in this age group.

Age Factors↗
PubMed1994

International study of sex ratio and twinning of neural tube defects.

The goal of this study, based on information collected from eight congenital malformation registry programs around the world, was to analyze sex and twinning of affected infants and fetuses, according to type of neural tube defect (NTD) and other variables. The type of defect and its location, whether it occurred in isolated form or was associated with other malformations, population from which data were retrieved, vital status of the infant, and gestational age of the fetus/infant were considered. The material included 3,416 infants and 168 selectively aborted fetuses with anencephaly, 4,830 infants and 76 fetuses with spina bifida, and 1,022 infants and 19 fetuses with encephalocele. Less than 20% of infants with anencephaly or spina bifida and more than one-third of infants with encephalocele had associated malformations. A female excess was found among all infants with NTD but a male excess in fetuses delivered spontaneously before week 20, indicating selective male late fetal deaths. Sex ratio varied by type of NTD, vital status at birth, presence of associated malformations, and year of birth, with an increasing sex ratio for anencephaly during the 1960s and 1970s. Twinning was positively associated with NTD but the extent of this association varied with NTD type and program, while the distribution by sex type of pair of twin appeared to be similar to that of all births. Twins concordant for anencephaly or encephalocele were mainly found when the defect occurred as part of a syndrome, and only in like-sexed pairs. Twins concordant for spina bifida had the isolated form of the defect and 5 of 6 pairs were like-sexed.(ABSTRACT TRUNCATED AT 250 WORDS)

Diseases in Twins↗
PubMed1993

Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases.

Agenesis of the corpus callosum was identified by ultrasound examination in 35 fetuses between 19 and 37 weeks' gestation. The ultrasound findings included absence of the corpus callosum and cavum septum pellucidum (hypoplasia in one case of partial agenesis of the corpus callosum), a typical 'teardrop' configuration of the lateral ventricles, distension of the interhemispheric fissure, upward displacement of the third ventricle, radiate arrangement of the medial cerebral gyri, and abnormal branching of the anterior cerebral artery. Associated anomalies were identified in 20 fetuses, including heterogeneous malformations and chromosomal aberrations (mosaic-trisomy 8 in three, trisomy 18 in two and partial duplication 8p in one). Five cases of agenesis of the corpus callosum were identified in a population of pregnant patients prospectively investigated because of genetic risk for agenesis of the corpus callosum or related syndromes. In this group, no diagnostic errors were made. Long-term neurological follow-up (6 months to 11 years) was available in 11 infants with antenatal diagnosis of isolated agenesis of the corpus callosum. Normal intellectual development was present in nine, and a low intellect (developmental quotient between 70 and 85) was found in two. It is concluded that fetal agencies of the corpus callosum is associated with elusive sonographic findings that can, however, be accurately identified by targeted examinations. In routine sonograms, an increased atrial width and/or failure to visualize the cavum septum pellucidum should arise the suspicion of fetal agencies of the corpus callosum. Given the high frequency of associated anomalies, prenatal diagnosis of agencies of the corpus callosum dictates the need for a careful survey of fetal anatomy and karyotyping. The prognosis is isolated agencies of the corpus callosum remains uncertain, although it is expected that a normal or boarderline intellectual development will occur in many cases.

Journal Article↗
PubMed1993

The epidemiology of three serious cardiac defects. A joint study between five centres.

The paper reports a joint study made by five member programs of the International Clearinghouse for Birth Defects Monitoring Systems. Three specific heart malformations were studied, hypoplastic left heart syndrome (HLHS), transposition of the great vessels (TGV), tetralogy of Fallot, and some epidemiological characteristics were analyzed. The prevalence at birth was estimated to be 2.0, 2.9, and 2.2 per 10,000 births, respectively. No time trend in the prevalence at birth was observed for any one of the three malformations in the total study population. When only isolated defects were considered (infants without major non-cardiac malformations), all three cardiac anomalies showed an increased rate in infants with low birth weight, short gestational duration and probably twinning. A preponderance for males was observed for each defect but was strongest among infants with tetralogy of Fallot (sex ratio 2.5 for Fallot, 1.4 to 1.5 for the other conditions). There were also differences between the three cardiac defects with respect to percentage of low birth weight, preterm births, and rate and type of associated extracardiac malformations. This paper stresses the advantage of pooling data from different registries in studies of uncommon specific malformations and infrequent characteristics.

Adult↗
PubMed1992

Prenatal diagnosis of lobar holoprosencephaly.

Lobar holoprosencephaly was identified with sonography in 12 fetuses between 21 and 35 weeks' gestation. A confident diagnosis was made in each case by a mid-coronal view of the brain demonstrating absence of the cavum septum pellucidum with fusion and squaring of the frontal horns. The only associated anomaly was Dandy-Walker malformation that occurred in three cases. All fetuses had mild to severe ventriculomegaly. Five pregnancies were terminated; there was one spontaneous abortion and six fetuses were delivered at term. A ventriculo-peritoneal shunt was implanted in four. Follow-up was available for five and revealed severe mental retardation in each case. Lobar holoprosencephaly is amenable to prenatal ultrasound diagnosis, although a differentiation with other cerebral malformations may be difficult at times. The outcome of affected infants remains uncertain, but neurological impairment occurs frequently.

Journal Article↗
PubMed1990

Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births.

Epidemiological and genetic variables in limb reduction defects (LRD) were analysed during the years 1978 to 1987 in a case control study in Emilia Romagna, northern Italy. During the observation period, 83 neonates out of 173,109 consecutive births had LRD (4.8 per 10,000). Cases were divided into five subgroups: transverse, intercalary, longitudinal, split, and multiple types of LRD. Of all cases, 64% were upper limb, 21% lower limb, and 15% both. Coexisting non-limb malformations were found in 10 cases (12%), five with recognised syndromes and five with other associated defects. About 7.2% of first degree relatives had defects involving the skeletal system. In two cases the mother had the same type of LRD (a split). No recurrence among sibs was observed. Risk factors correlated with LRD were found to be low birth weight (2500 g or less), vaginal bleeding, and threatened abortion.

Consanguinity↗
PubMed1989

Anticonvulsant drugs and malformations is there a drug specificity?

The distribution of anticonvulsant drug therapy was studied in 318 malformed infants with known histories of maternal epilepsy. Data on the infants was collected from six birth defect monitoring programs in Europe and South America. Use of specific types of anticonvulsants varies widely among reporting countries. Heterogeneity of drug-malformation distribution, was analyzed to determine whether use of specific drugs were linked to specific malformations. A significant association was seen between maternal use of valproic acid and spina bifida, and a weaker, non-significant one between carbamazepine and spina bifida. Facial clefts were associated with both diphenylhydantoin and phenobarbitone use and also with polytherapy. These differences indicate that the actual drug used is significant for the teratogenic process. The technique may be useful in analysis of other drug-related teratogenic questions.

Abnormalities, Drug-Induced↗