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Biomedical subjects

L Bovicelli

Publications and source records attributed to L Bovicelli.

At least 73 records · Page 4Linked to original sources

Transverse limb reduction defects after chorion villus sampling: a retrospective cohort study. GIDEF--Gruppo Italiano Diagnosi Embrio-Fetali.

A retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3430 pregnancies for which CVS was performed, 2759 had a known outcome. The overall rate for TLRDs was 1 in 1143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4458). The rate of TLRDs was 2.9/1000 for CVS performed at 9 weeks' gestation and 1.0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow-up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained.

Chorionic Villi Sampling↗

Symptomatic parvovirus B19 infection of one fetus in a twin pregnancy.

Twin pregnancies complicated by infection due to parvovirus B19 are uncommon. We report a case in which only one fetus developed a symptomatic infection, which presented at first as ascites and pleural effusion; later, meconium peritonitis developed. Hydrops spontaneously resolved, and at birth meconium peritonitis was successfully treated with surgery. However, even with the positive outcome of this pregnancy, a long-term follow-up is needed to exclude damage other than injury to the erythropoietic system.

Adult↗

Sonography of fetal Dandy-Walker malformation: a reappraisal.

Thirty-four cases of fetal Dandy-Walker malformation recognized in utero with ultrasound between 16 and 37 weeks' gestation are reported. In each case a qualitative examination of the posterior fossa structures was performed, including the cerebellar hemispheres, cerebellar vermis, fourth ventricle and cisterna magna. In each case, the transverse cerebellar diameter and the depth of the cisterna magna were measured in a standard transcerebellar view of the fetal brain. The atrial width of the lateral ventricles was also assessed. The transverse cerebellar diameter was abnormal in 15 cases, the cisterna magna depth was abnormal in 33, and the atrial width was abnormal in 30. It is concluded that measurement of the transverse cerebellar diameter is unreliable in predicting fetal Dandy-Walker malformation. Measurements of the cisterna magna and atrium seem to be more valuable, although the real sensitivity remains unclear. In pregnancies at risk for fetal Dandy-Walker malformation, the sonographic examination should not be limited to the cerebral ventricles and transcerebellar view but should include a detailed evaluation of all the different anatomical components of the posterior fossa, especially the fourth ventricle and inferior cerebellar vermis.

Journal Article↗

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↗

Accuracy of transvaginal ultrasound and serum hCG in the diagnosis of ectopic pregnancy.

Transvaginal ultrasound was performed upon admission of 127 patients with a clinical suspicion of ectopic pregnancy in association with human chorionic gonadotropin (hCG) determination. Failure to visualize with sonography an intrauterine gestational sac with an hCG level superior to 1000 mIU/ml identified 25/42 tubal pregnancies with a positive predictive value of 86% and a specificity of 93%. Abnormal adnexal findings occurred in 95% of the ectopic pregnancies. Extrauterine gestational sacs with or without embryos could be confidently detected in 19 ectopic pregnancies (45%). A complex adnexal mass was seen in 19 cases and yielded a positive predictive value of 90% (19/21). Adnexal gestational sacs and complex masses were seen more frequently in those ectopic pregnancies with an hCG level above 1000 mIU/ml but the difference was not significant (100% versus 78%). Simple adnexal cysts were found more frequently in intrauterine pregnancies, and fluid in the cul-de-sac was also not indicative of ectopic pregnancy (positive predictive value, 29%). Transvaginal ultrasound has a primary role in the diagnosis of ectopic pregnancy. The combined use of uterine and adnexal sonography associated with elevated hCG levels allows a definitive diagnosis in the vast majority of cases at a very early stage, when the chances for a successful conservative treatment are greater.

Journal Article↗

Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction.

A prenatal diagnosis was carried out on a 9-week-old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.

Alleles↗

Sonography of unilateral megalencephaly in the fetus and newborn infant.

A 27-year-old primigravida women was referred for ultrasound studies at 32 weeks' gestation because of the suspicion of fetal ventriculomegaly. Sonographic examination of the fetal brain found a marked shift of the midline, with enlarged left hemisphere and ipsilateral occipital horn, and abnormal convolutions. A 3500 gm male infant was delivered by cesarean section at 39 weeks' gestation because of worsening macrocrania after which the diagnosis of unilateral megalencephaly was confirmed by computed tomography.

Adult↗

Pregnancy after direct intraperitoneal insemination.

Direct intraperitoneal insemination (DIPI) and superovulation are simple procedures which may together represent a good alternative to gamete intra-Fallopian transfer (GIFT) in infertile women with patent Fallopian tubes. In the present study, pregnancy occurred in 25 of 96 couples (26%) and six (24%) of these aborted. The pregnancy rate for all cycles was 19.6% and multiple pregnancies were found in six of 25 (24%) patients. We observed no ectopic pregnancy. The combination of these techniques is concluded to be useful in achieving pregnancy in infertile women with patient Fallopian tubes.

Adult↗

Growth hormone, insulin-like growth factor I, insulin and C-peptide during human fetal life: in-utero study.

Serum growth hormone (GH), insulin-like growth factor (IGF-I), insulin and C-peptide were measured by RIA in fetal blood collected in utero by umbilical cord puncture performed for a variety of indications. Eighty-four fetuses were aged 19-25 weeks and 14 were 26-37 weeks. IGF-I values were lower than the sensitivity of the method. The range for GH was 3-197 micrograms/l (GH-micrograms/l x 2 = mU/l), for insulin 14.3-117 pmol/l, for C-peptide 66.2-827.5 pmol/l. GH significantly increased from week 19 to 25; insulin and C-peptide levels increased from week 19 to 37. GH levels at 19-25 weeks were significantly higher in fetuses with femoral length less than the 5th compared with those with femoral length greater than the 95th centile for that age. GH and insulin levels did not correlate with weight at birth or with maternal hormone levels. These data provide evidence for a presence in living fetuses, from the 19th week, of high levels of GH and of insulin levels not very different from those in adults but these hormones do not seem to be directly responsible for fetal growth.

Birth Weight↗

Prenatal karyotyping in malformed fetuses.

Experience with prenatal karyotyping of 237 fetuses with sonographic evidence of malformation is reported. Abnormal karyotype was found in 40 cases (16.8 per cent): chromosomal aberrations were found in 19 of the 178 fetuses with an isolated structural anomaly (10.6 per cent) and in 21 of the 59 fetuses with multiple malformations (35.6 per cent). Detailed cytogenetic and morphological information concerning fetuses affected by omphalocele, duodenal atresia, hydrocephalus, multicystic kidney, unilateral hydronephrosis and cystic hygroma is reported. The need for a very careful ultrasound evaluation of fetal anatomy in these pregnancies is stressed, as the risk of a chromosomal anomaly depends mainly on the existence of more than one ultrasonically diagnosed structural defect.

Chromosome Aberrations↗

Diagnosis and significance of cystic hygroma in the first trimester.

Thirty cases of cervical cystic hygroma were diagnosed in the first trimester of pregnancy. Karyotype analysis was available in 29 (97 per cent). Fifteen (52 per cent) had a chromosomal abnormality. The ultrasound appearance was described as posterior cervical, lateral cervical, or cervical hygroma with hydrops. Of the 14 euploid embryos, six were electively aborted, two are undelivered, and six have been delivered as phenotypically normal infants. In cases in which the chromosomes were normal and the pregnancy continued, all lesions resolved by 18 weeks.

Aneuploidy↗

Sonographic findings in septo-optic dysplasia in the fetus and newborn infant.

A 28-year-old primigravida woman was referred for ultrasound studies at 27 weeks' gestation. Sonographic examination found enlarged cerebral ventricles, communicating lateral ventricles, bilateral cleft lip and palate. A 2500 gm male infant was delivered at 36 weeks' gestation, after which the diagnosis of septo-optic dysplasia was made.

Abnormalities, Multiple↗

Hypochondriacal fears and beliefs in pregnancy.

Illness attitudes were evaluated in 26 pregnant women and 26 control subjects matched for sociodemographic variables, by means of a self-rating scale, on 3 different occasions. For each trimester of pregnancy, women displayed more hypochondriacal fears and beliefs and conviction of disease (disease phobia) than normal controls. In the third trimester, they also reported more fear of dying and bodily preoccupations. The findings should alert physicians to ask their pregnant patients whether they are preoccupied with fear of dying, or are concerned that they suffer from an undiagnosed physical illness, or dread a specific illness such as cancer or heart disease. Hypochondriacal fears and beliefs are liable to affect well-being and the health attitudes of pregnant women. If properly recognized, they may effectively be treated.

Adult↗

Prenatal diagnosis and management of fetal ovarian cysts.

Congenital ovarian cysts are a pathological condition which can be diagnosed in utero by ultrasound. We report 14 consecutive diagnoses of fetal ovarian cysts, obtained in the second and third trimesters of pregnancy. Congenital ovarian cysts have almost invariably a good prognosis, and no change in the standard obstetrical management is required. However, the evolution of the disease in utero is extremely variable. The cyst may increase in size, decrease or even disappear, or undergo complications such as torsion and rupture, which may carry some risks to the fetus. When a fetal ovarian cyst is detected, serial ultrasound examinations should be performed. If one of the above complications is suspected, the option of prompt caesarean section should be considered.

Cesarean Section↗

The clinical significance of prenatally diagnosed choroid plexus cysts.

The choroid plexus cyst is one of many malformations of the central nervous system that can be detected in utero by ultrasonography. Choroid plexus cysts occur in 2.3% of fetuses. Because previous reports have shown an association between choroid plexus cysts and chromosomal anomalies, we analyzed 82 prenatally diagnosed cases, 65 of whom had chromosome analysis performed. Of the group, 6.2% had chromosomal anomalies of the trisomy 18 type. The remaining 17 cases were clinically normal at birth. These cases of trisomy 18 were also associated with multiple structural anomalies. Therefore, we suggest that after the diagnosis of choroid plexus cysts is made, a complete ultrasonographic survey of the fetal anatomy be performed. Fetal karyotype determination may be offered to patients, especially in the presence of structural anomalies.

Abnormalities, Multiple↗

Hypochondriacal symptoms in pregnancy.

Illness attitudes were evaluated in 26 pregnant women and 26 control subjects matched for sociodemographic variables, by means of a self-rating scale, on three different occasions. In each trimester of pregnancy, women displayed more hypochondriacal fears and beliefs and conviction of disease (disease phobia) than normal controls (p less than 0.001). The findings should alert physicians to ask their pregnant patients whether they are preoccupied with fear of dying, or are concerned that they suffer from an undiagnosed physical illness, or dread a specific illness such as cancer or heart disease. Hypochondriacal fears and beliefs are liable to affect the well-being and health attitudes of pregnant women. If properly recognized, they may effectively be treated.

Female↗

Sonographic evaluation of the normal developmental anatomy of the fetal cerebral ventricles: II. The atria.

A prospective ultrasound study was conducted on 171 normal pregnancies ranging in gestational age from 15 weeks to term to evaluate the developmental anatomy of the atria of the lateral ventricles. The atrial width showed no significant modifications throughout gestation, remaining fairly constant. Significant linear relationships were found between the cerebroatrial distance and gestational age (R2 = 0.88; P less than .0001) and between the cerebroatrial distance and the biparietal diameter (R2 = 0.936; P less than .0001), with a first- and second-order regression equation being the best fit, respectively. From these data, growth of the atria was characterized both biologically and mathematically, providing a comprehensive evaluation of the atrioventricular system throughout pregnancy. Such data offer the potential for early prenatal diagnosis of various types of developmental abnormalities of the fetal ventricular system.

Cerebral Ventricles↗

A new funipuncture technique: two-needle ultrasound- and needle biopsy-guided procedure.

A new technique is presented for funipuncture under ultrasound guidance using a biopsy guide and a 20/25-gauge needle combination. The 20-gauge needle was used for uterine entry and the 25-gauge needle for the actual cord puncture. The method was used for sampling fetal blood in 262 pregnancies with 264 fetuses (two sets of twins) between 17-39 weeks, at risk for beta-thalassemia, chromosomal disorders, TORCH infection, fetal hypoxia, and Rh-isoimmunization. Pure fetal blood was aspirated from 241 fetuses (91.3%), including the twins. The procedure lasted less than 5 minutes in 76.5% of the cases and less than 10 minutes in 90.1% of the cases. Intra-amniotic bleeding was seen in only 23.1% of the cases, and fetal bradycardia was not noted. Forty-four pregnancies were terminated after the diagnosis of genetic or infectious disease. Seven fetuses at risk for Rh-isoimmunization, found to be Rh-positive and anemic, were transfused immediately after blood sampling using the same needle. Of the 220 continuing pregnancies, there were 14 fetal losses (three before 28 weeks and 11 after 28 weeks or during the perinatal period). A probable etiology for the loss was found in 11 cases. These included one severely Rh-isoimmunized hydropic fetus who died in utero after transfusion at 26 weeks, one fetus who died in utero at 31 weeks following a car accident, and nine malformed newborns. The corrected rate for fetal losses probably related to the procedure was thus 0.9% before 28 weeks and 0.8% after 28 weeks. This new funipuncture technique seems to have several advantages over the freehand and/or biopsy-guided single-needle techniques.

Biopsy, Needle↗