PubMed Health⌕ Search

Biomedical subjects

B Dott

Publications and source records attributed to B Dott.

At least 37 records · Page 2Linked to original sources
PubMed1996

Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. However what is theoretically possible is not, always done in practice specially when gastrointestinal atresias (GIA) are concerned and when whole antenatal populations are screened rather than high risk groups. Thanks to our registry of congenital anomalies a retrospective study was undertaken to evaluate the prenatal detection of GIA by ultrasound scan in 118,265 consecutive pregnancies of known outcome. Only 31 out of 129 malformed fetuses with GIA were detected (24.0%). The sensitivity of detection varied from 51.4% for atresia of the small intestine to 24.2% for esophageal atresia and 8.2% for ano-rectal atresia. No isolated case with esophageal atresia and ano-rectal atresia were diagnosed. Our results stress the need to perform scans at > or = 18 weeks gestation and to train sonographers in order to improve prenatal detection of GIA.

Adult↗
PubMed1996

No evidence for genomic imprinting in liver-born Down syndrome patients.

Despite numerous studies, the clinical heterogeneity of Down syndrome has no explanation. We have attempted to investigate the role of genomic imprinting in the phenotype of liveborn Down syndrome patients. Hundred fifty eight patients were investigated for parental origin of the extra chromosome 21 with standard cytogenetic analyses and with DNA plymorphic markers. The extra chromosome 21 was of paternal origin in 8 cases and of maternal origin in 150 cases. The phenotype of Down syndrome patients in whom the nondisjunction was of maternal origin, was not different from the phenotype of Down syndrome patients in whom the nondisjunction was of paternal origin. We conclude that imprinting may probably not play a role in the heterogeneity of Down syndrome phenotype.

Adolescent↗
PubMed1996

Familial distal arthrogryposis type I.

Distal arthrogryposis type I is defined by congenital joint contractures of hands and feet and is inherited in an autosomal dominant fashion. The hands are most frequently involved than the feet, 98% and 88% of the cases, respectively. The authors report a family with five patients affected over four generations. This family demonstrates the marked intra-familial variability in expression of this condition. Inter-familial variability is also typical of distal arthrogryposis type I.

Arthrogryposis↗
PubMed1995

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies.

Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12, 263-270, 1992), considering the period 1979-1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentage of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).

Abnormalities, Multiple↗
PubMed1995

Prenatal detection of internal urinary system's anomalies. A registry-based study.

Prenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in our region. How many fetal anomalies are actually detected by this procedure? We have used our registry of congenital malformations to answer this question regarding to Internal Urinary System (IUS) anomalies. The mean time of detection of IUS anomalies was 29 weeks of pregnancy (12-39). The sensitivity of prenatal diagnosis of IUS anomalies by ultrasonographic examination was 59.3% for isolated malformations (fetuses with only one anomaly) and 46.0% for multiple malformed children with IUS anomalies. For all cases of IUS anomalies the percentage of prenatal detection was 56.0. Termination of pregnancy was performed in 9.4% of the cases.

Female↗
PubMed1995

No evidence for genomic imprinting in liveborn Down syndrome patients.

Despite numerous studies, the clinical heterogeneity of Down syndrome has no explanation. The authors have attempted to investigate the role of genomic imprinting in the phenotype of liveborn Down syndrome patients. Hundred fifty eight patients were investigated for parental origin of the extra chromosome 21 with standard cytogenetic analyses and with DNA polymorphic markers. The extra chromosome 21 was of paternal origin in 8 cases and of maternal origin in 150 cases. The phenotype of Down syndrome patients in whom the nondisjunction was of maternal origin, was not different from the phenotype of Down syndrome patients in whom the nondisjunction was of paternal origin. The authors conclude that imprinting may probably not play a role in the heterogeneity of Down syndrome phenotype.

Adolescent↗
PubMed1995

Distribution of single organ malformations in European populations. EUROCAT Working Group.

The aim of this study was to evaluate the prevalence of congenital anomalies in 19 areas from 13 European countries. A total of 291,126 births were surveyed. On average most of the anomalies were recorded in livebirths. The total prevalence of congenital anomalies was 21.8 per 10,000 births. Four groups of congenital anomalies were of particular note in the consideration of geographic variations: neural tube defects, cleft lip, limb reduction defect and Down syndrome. For neural tube defects, 24 cases per 10,000 were recorded in the British Isles whereas only 9.6 cases per 10,000 were registered in Continental Europe. Cleft lip had a much higher prevalence in Groningen (The Netherlands) and in Odense (Denmark) than in the other European countries under study. The prevalence of limb reduction defect was high in Bilbao (Spain), in Odense, in Strasbourg (France) and in Groningen. In the study population the prevalence of Down syndrome ranged from 5.6 to 21.3 per 10,000 livebirths.

Cleft Lip↗
PubMed1995

Prevalence of neural tube defects in northeastern France, 1979-1992 impact of prenatal diagnosis.

The objective of this study was to determine in total prevalence of neural tube defects (NTD) in northeastern France during 1979-1992 inclusive, the impact of prenatal diagnosis on birth prevalence. All births and termination of pregnancy affected by NTD were ascertained from multiple sources thank to our registry of congenital anomalies. In our region maternal serum alpha-fetoprotein screening is not available whereas routine ultrasonographic screening of congenital anomalies is performed in all pregnant women. Total prevalence of NTD during 1979-1992 was 10.94 per 10,000 with no upward or downward trend. The total prevalence of NTD in our region remained stable. However birth prevalence fell significantly. The fall was 100 per cent for anencephaly and 60 and 50 per cent for spina bifida and encephalocele, respectively. This decrease was obtained by routine ultrasonographic examination only and termination of pregnancy. Comparison with similar studies in other countries demonstrated that screening by maternal serum alpha-fetoprotein is needed in our region.

Evaluation Studies as Topic↗
PubMed1995

Rett-like syndrome in fragile X syndrome.

A 23-year-old pregnant woman was referred to the Genetics Department for genetic counselling and possible prenatal diagnosis because of unexplained mental retardation in a paternal uncle. Family history revealed that her father had two mentally retarded sisters well as a brother with mental retardation and a normal sister. This normal sister had two normal sons, on normal daughter and one mentally retarded daughter. The normal daughter had one daughter, who has been referred to the pediatric department because of mental retardation two months earlier; Rett syndrome was diagnosed as this girl had the classical symptoms of this syndrome. The paternal uncle of the consultant was examined. H head typical features of fragile X syndrome. Therefore cytogenetic and molecular studies were undertaken in this family. Fragile X syndrome was diagnosed in the girl with Rett syndrome by the presence of the classical FMR-1 mutation and confirmed by cytogenetic studies, which revealed 12% fragile X positive cells.

Adult↗
PubMed1995

Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents.

The female proband, from Turkish extraction was the fifth liveborn child of a 24-years-old mother and a 25-years-old father. Her parents as well as her two older sisters and her two older brothers were phenotypically normal. Parents were first cousins. At birth a complex cardiac defect was diagnosed (tricuspid atresia, hypoplasia of the pulmonary artery, dextroposition of the aorta, ventricular septal defect and auricular septal defect) for which she was operated on in 1976, 1983 and 1984. When she was 20 years old, latero aortic pheochromocytoma was diagnosed. At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "café-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.

Abnormalities, Multiple↗
PubMed1994

Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births.

The risk for birth defects in the offspring of first cousin parents is substantially higher than in the offspring of non-consanguineous parents. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies, we think that the answer to this question is "yes." In the population studied in Northeastern France, consanguineous matings were known in 1.08% of the cases with congenital anomalies, vs. 0.28% in controls (P < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 38 malformed children, 24 were seen in first cousin matings (10.5 times more frequent than in offspring of nonconsanguineous couples), 8 in second cousin marriages, and 6 in more distantly consanguineous matings. Consanguineous mothers were more often pregnant than nonconsanguineous mothers (P < 0.01) and they had more stillbirths than nonconsanguineous mothers. These results must be taken into account when counseling consanguineous couples.

Congenital Abnormalities↗
PubMed1994

Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies.

Prenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in our region. How many fetal anomalies are actually detected by this procedure? We have used our registry of congenital malformations to answer this question regarding limb reduction defects (LRDs). The mean time of detection of LRDs was 26 weeks of pregnancy (range 16-32 weeks). The sensitivity of prenatal diagnosis of LRDs by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiply malformed children with LRDs, 4.0 and 18.2 per cent, respectively. For all cases of LRDs, the percentage of prenatal detection was 11.5. Termination of pregnancy was performed in 6.7 per cent of the cases.

Congenital Abnormalities↗
PubMed1994

Recent trends in the prevalence of Down syndrome in north-eastern France.

Examination of data from our regional registry of congenital anomalies indicated that 217 children with Down syndrome (DS) were registered (liveborn, stillborn or termination of pregnancy) to mothers living in the Strasbourg area from 1980 to 1992 inclusive. This represents a period prevalence of 1.25 per 1000 total births. From 1980 to 1987, 93 children with DS were registered (prevalence of 0.79 per 1000) whereas from 1988 to 1992, 124 trisomic 21 were identified (prevalence of 1.81 per 1000). In our country since 1980, prenatal diagnosis is offered, free of charge, to all women being 38 years old or more. The percentage of women in whom prenatal diagnosis was performed was "en plateau" since 1986, around 60 per cent. No screening program based on detection of markers in maternal serum (AFP, hCG, U3) is available in our region. A changing pattern of risk in relation to maternal age was identified. In the general population, women under 35 years gave births to 91.7 per cent of all children in 1986 and to 81.1 per cent of all children in 1990. From 1980 to 1987 34.7 per cent of the children with DS were registered in mothers older than 35 years of age, from 1988 to 1992 this percentage was 46.3. From 1982 to 1987, 33 DS were born alive from mothers over 35 years whereas from 1988 to 1992, 25 livebirths DS were born from mothers over 35 years although interruption of DS pregnancies was more frequent in women older than 35 years of age.(ABSTRACT TRUNCATED AT 250 WORDS)

Down Syndrome↗
PubMed1994

Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition?

The authors report on a child in which the occurrence of cardiac defect, urinary tract anomaly, and Duane anomaly was associated with mental retardation. The parents were first cousins. The index case was a 3-year-old girl referred for mental retardation. Auricular septal defect was diagnosed at birth. She was surgically treated for bilateral vesico-ureteral reflux at 2 years of age. At examination, she had a mild facial dysmorphism, microcephaly, spastic paraplegia and Duane anomaly. The Duane anomaly may occur in association with various partly overlapping syndromes that may be part of the same clinical spectrum, as the cervico-oculo-acoustic syndrome, the cat eye syndrome and syndromes inherited in an autosomal dominant fashion: the acro-reno-ocular syndrome and the Okihiro syndrome. Their patient seems to have a different condition from all of these previously reported syndromes associated with the Duane anomaly. Their suggest that this condition is best described as a new syndrome.

Abnormalities, Multiple↗
PubMed1993

Evaluation of prenatal diagnosis of congenital heart disease.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially when congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high-risk groups. Thanks to our registry of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 131,760 consecutive pregnancies of known outcome from 1979 to 1988. Only 84 out of 912 malformed fetuses with CHDs without chromosomal anomalies were detected (9.2 per cent). The sensitivity of detection varied from around 38 per cent for malformations such as hypoplastic left heart and single ventricle to around 5 per cent for ventricular and atrial septal defects. The effectiveness of the detection of some forms of major congenital heart disease has increased dramatically since 1987 by including routine examination of the four-chamber view and of the inflow and outflow tracts of the fetal heart. Our results stress the need to obtain a definite clear four-chamber view, to perform scans at > or = 18 weeks of gestation, and to train sonographers in order to improve the prenatal detection of CHDs.

Female↗
PubMed1993

Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. We have used our registry of congenital malformations to determine how many fetal anomalies and consequently how many chromosomal abnormalities are detected by this procedure. In our region, evaluation of prenatal diagnosis of chromosomal abnormalities in women of 38 years and younger (chromosomal prenatal diagnosis is offered to women > or = 38 years) with no personal or familial history of chromosomal anomaly was performed in 119,099 consecutive pregnancies of known outcome from 1980 to 1987. At least one ultrasonographic examination seeking congenital malformations was performed in more than 95% of the pregnant women studied. The total number of chromosomal anomalies during the study period was 199, 123 of these being Down syndrome. Only 41 (34.5%) of the 119 fetuses with chromosomal abnormalities and congenital malformation examined had been found to have a malformation at ultrasound examination. This low sensitivity was different for the diverse chromosomal abnormalities. Only 10 out of the 54 fetuses with Down syndrome and malformations (18.5%) were detected and only 3 out of 24 (12.5%) atrioventricular canal defects in those trisomic 21 patients were detected. Only 5 out of 11 (45.4%) fetuses with trisomy 13, 13 out of 26 (50.0%) fetuses with trisomy 18, 7 out of 12 patients with monosomy X (58.3%) and 6 out of 27 (22.2%) fetuses with other chromosomal abnormalities were diagnosed. Moreover, the time of detection of these anomalies was early enough to allow amniocentesis and termination of pregnancy in the case of a chromosomal abnormality in only 15 out of these 41 patients, including 7 cases of cystic hygroma in fetuses with monosomy X. This low sensitivity is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate qualification of some operators and by the insufficient duration of the routine examination. In conclusion, our study has shown that the sensitivity of the detection of chromosomal abnormalities by routine prenatal ultrasound screening is low. Other screening methods are needed.

Adult↗
PubMed1993

Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome.

We report two sibs with Angelman syndrome or an apparently new syndrome. In addition to severe mental retardation and seizures, clinical examination showed an ataxic and stiff legged gait, truncal hypotonia with hypertonia of the limbs, dysmorphic facial features (brachycephaly, large mouth, pointed chin and a prominent jaws) and scoliosis. Brain CT scan and MRI revealed ventricular enlargement and squared frontal horns. Pregnancy and delivery were uneventful. Karyotypes were normal. No deletion of chromosome 15q11-13 region was shown by molecular genetic techniques. The parents who are normal are second cousins. The condition is therefore probably inherited as an autosomal recessive one.

Angelman Syndrome↗