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B Dott

Publications and source records attributed to B Dott.

At least 19 recordsLinked to original sources
PubMed2006

Are the recommendations on the prevention of neural tube defects working?

Many studies showed that reduction by an estimated 80% or more of neural tube defects (NTD) by consumption of folic acid from before conception is achievable. The objectives of this study were to evaluate the effectiveness of recommendations on folic acid aimed at reducing the occurrence of NTD in our region. Cases of NTD were ascertained among liveborn infants, stillbirths, and terminations of pregnancy. Incidences and trends in rates of NTD before and after 1992 (the year of the first recommendations) and before and after 1995 (the year of local recommendations) were obtained. The results showed that the issuing of recommendations on folic acid was followed by no detectable improvement in the trends of incidence of NTD. The rates of NTD per 10,000 were before 1992 9.07, from 1993 to 1995 8.14, and after 1995 10.62, respectively. The incidence rate ratios (IRRs) were not different from 1.00. In conclusion new cases preventable by folic acid continue to accumulate. Recommendations alone did not influence trends in NTD in our country up to 11 years after the confirmation of the effectiveness of folic acid in clinical trials. New strategies are needed.

Anencephaly↗
PubMed2000

Associated malformations in cases with oral clefts.

OBJECTIVE: Infants with oral clefts (OCs) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. METHOD: The prevalences at birth of associated malformations in infants with OCs were collected between 1979 and 1996 on all infants born in the area covered by the registry of congenital anomalies of Northeastern France in 238,942 consecutive births. RESULTS: Of the 460 cleft infants born during this period, 36.7% had associated malformations. Associated malformations were more frequent in infants who had cleft palate (46.7%) than in infants with cleft lip and palate (36.8%) or infants with isolated cleft lip (13.6%). Malformations in the central nervous system and in the skeletal system were the most common other anomalies, followed by malformations in the urogenital and cardiovascular systems. Weight, length, and head circumference of children with OCs and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal diagnosis was rarely done by fetal ultrasonographic examination in isolated clefts. However, even in multiple associated malformations, prenatal diagnosis by fetal ultrasonographic examination had a low sensitivity, 31.6%. CONCLUSION: The overall prevalence of malformations, which was one in more than three infants, emphasizes the need for a thorough investigation of infants with clefts. A routine screening for other malformations especially skeletal, central nervous system, and cardiac defects may need to be considered in infants with clefts, and genetic counseling seems warranted in most of these complicated cases.

Abnormalities, Multiple↗
PubMed1999

Study of 290 cases of polyhydramnios and congenital malformations in a series of 225,669 consecutive births.

OBJECTIVES: To provide data on polyhydramnios associated with congenital anomalies in 225,669 consecutive pregnancies. MATERIAL AND METHODS: The information in this study came from births of known outcome recorded in our registry of congenital malformations. Routine ultrasonographic examination was performed. Polyhydramnios was diagnosed ultrasonographically. A case-control study allowed the examination of genetic and environmental causal factors of polyhydramnios associated with congenital malformations. RESULTS: The prevalence of this association was 1.28/1,000 (290 cases). Polyhydramnios associated with congenital malformations was diagnosed prenatally in 44.5% of the cases, 10.3% of the infants were stillborn. Forty-one percent of the cases had more than one malformation, 14.5% had a chromosomal aberration, and 20.0% had multiple malformations that do not constitute a syndrome. The more frequent malformations associated with polyhydramnios were cardiac, digestive, central nervous system, musculoskeletal, and urinary. There was increased parental consanguinity. The incidence of polyhydramnios and congenital anomalies among first-degree relatives was 4.1% and first-degree relatives had more malformations than controls (6.2 vs. 3.2%, p < 0.05). Threatened abortions and diabetes mellitus were significantly more frequent among mothers of children with congenital malformations associated with polyhydramnios than among controls. CONCLUSIONS: Our study demonstrated that careful fetal examination has to be performed when polyhydramnios is diagnosed as congenital malformations are often associated with polyhydramnios. We recommend the use of fetal chromosome analysis and careful ultrasonographic examination in every pregnancy complicated by polyhydramnios.

Journal Article↗
PubMed1999

Congenital anomalies associated with congenital hypothyroidism.

The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

Congenital Abnormalities↗
PubMed1999

Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births.

The risk for birth defects in the offspring of first-cousin matings has been estimated to increase sharply compared to non consanguineous marriages. 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 tried to answer to this question. In the population studied in North-Eastern France a consanguineous mating was known in 1.21% of the cases with congenital anomalies, vs. 0.27% in controls, (p < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 89 malformed children, 51 were seen in first-cousins mating (10.3 times more frequent than in offspring of non consanguineous couples), 17 in second-cousins marriages and 18 in more distant relatives mating. Three were uncle-niece marriage. Excluding known mendelian conditions these numbers were 73, 36, 17 and 17 respectively and the corresponding relative risk were 3.68, 3.01, 3.41 and 4.89 respectively. Therefore there is a negative dose-response effect between level of inbreeding and risk of congenital malformations. Consanguineous mothers were more often pregnant than non consanguineous mothers (p < 0.01) and they had more stillbirths than non consanguineous mothers. These results show that consanguinity is still a factor of birth defects and they must be taken into account for genetic counseling of inbred marriages, in developed countries.

Congenital Abnormalities↗
PubMed1999

Familial coarctation of the aorta in three generations.

Four members in three generations of a family were affected by a coarctation of the aorta (CoA) which was mild or severe, either isolated or in association with other cardiac defects. This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with incomplete penetrance and variable expressivity rather than polygenic inheritance.

Aortic Coarctation↗
PubMed1998

Study of 224 cases of oligohydramnios and congenital malformations in a series of 225,669 consecutive births.

OBJECTIVES: To provide data on oligohydramnios associated with congenital anomalies in 225,669 consecutive pregnancies. MATERIAL AND METHODS: The malformations in this study came from births of known outcome recorded in our registry of congenital malformations. Routine ultrasonographic examination was performed. Diagnosis of oligohydramnios was made ultrasonographically. For each case, a control was chosen. RESULTS: The prevalence of this association was 0.99 per thousand (224 cases). A case-control study allowed the examination of genetic and environmental factors for the origin of oligohydramnios associated with congenital malformations. Diagnosis of oligohydramnios associated with congenital malformations was made prenatally in 32.6% of the cases; 12.0% of the infants were stillborn. Fifty-nine percent of the cases had more than one malformation, 13.8% had a chromosomal aberration, and 27.6% had multiple malformations that do not constitute a syndrome. The more frequent malformations associated with oligohydramnios were urinary, musculoskeletal, digestive and cardiac. There was increased parental consanguinity. The frequency of oligohydramnios and congenital anomalies among first-degree relatives was 4.5% and first-degree relatives had more malformations than controls (8.0 vs. 3.1%, p < 0.05). Threatened abortions and diabetes mellitus were significantly more frequent among mothers of the children with congenital malformations associated with oligohydramnios than among the controls. CONCLUSIONS: Our study demonstrated that careful fetal examination has to be performed when oligohydramnios is diagnosed as congenital malformations are often associated with oligohydramnios. We recommend the use of fetal chromosome analysis and careful ultrasonographic examination in every pregnancy complicated by oligohydramnios.

Journal Article↗
PubMed1998

Oligodontia, microcephaly and facial dysmorphia syndrome.

Congenital absence of third molars is common. However absence of the other permanent teeth is relatively rare. Absence of teeth may be isolated or associated to other features. We had the opportunity to examine a girl with oligodontia associated to microcephaly, to facial dysmorphia and to short stature.

Abnormalities, Multiple↗
PubMed1998

Lymphedema combined with brachydactyly and tachycardia.

Hereditary lymphedema can appear at birth or later up to adulthood. It may be seen in connection with diverse symptoms forming various syndromes. The authors report a family with hereditary lymphedema, brachydactyly, syndactyly and tachycardia. Lymphedema and tachycardia could appear together by chance. However this combination could also be a syndrome.

Adult↗
PubMed1998

Impact of routine fetal ultrasonographic screening on the prevalence of Down syndrome in non aged mothers.

In many countries the introduction of screening programs based on maternal serum has reduced the number of Down syndrome. In France routine maternal serum screening was not available whereas ultrasound scanning during pregnancy is routine practice in private offices and in hospitals using high-resolution real-time scanners and there are no legal upper limits on gestational age at termination of pregnancy for fetal abnormality. The objective of this study was to determine the impact of routine fetal ultrasonographic screening on birth prevalence of Down syndrome in non aged mothers. Total prevalence of Down syndrome during 1989 to 1996 was stable 1.43 per 1,000 with no upward or downward trend. The total number of liveborn Down syndrome during this period was higher than previously due to a changing pattern of risk in relation to maternal age. All women who delivered an infant with Down syndrome had had routine ultrasonography, including 88% in the second trimester. Out of the 154 Down syndrome fetuses examined, 38 had been found to have an anomaly. This low sensitivity (24.7%) is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate routine, first level ultrasonographic examination. This study demonstrated that other screening methods than routine fetal ultrasonographic examination are needed in our region.

Abnormalities, Multiple↗
PubMed1998

Study of Down syndrome in 238,942 consecutive births.

The genetics and the epidemiology of Down syndrome (DS) was studied in the area which is covered by our registry of congenital malformations. For each of the 398 new DS cases which were ascertained during the period 1979 to 1996 more than 50 factors were studied and compared to those from control infants. The prevalence of DS was 1.66 per 1000; 2.2% of the DS cases were stillbirths and 29.4% were induced abortions. Karyotypes were obtained in 391 cases of which all but 23 were 47,+21;9 were mosaics (2.3%), and 14 had translocations (3.6%). Interchromosomal effect was a question in 7 cases. The most common types of associated malformations were cardiac anomalies (46.2%) and intestinal atresias (6.0%). Seasonality or time/space clusters were not observed in spite of the Chernobyl nuclear accident. No paternal age effect was demonstrated; 5.3% of the mothers of DS had 2 previous spontaneous abortions (controls 3.7% p < 0.05). At birth, the DS infants measured and weighted less and their head circumference was lower than in control infants. Weight of placenta was also lower than in control infants. In this material there were 4.5% of consanguineous marriages (P < 0.01). The pregnancies of the DS children were more often complicated by threatened abortions than in the controls, 3.2% of the mothers of the DS children were diabetic controls (1.7%), although the difference was not statistically significant. For all other factors studied no statistically significant difference with respect to controls could be demonstrated.

Abnormalities, Multiple↗
PubMed1998

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 where congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high risk groups. Thanks to our registries of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 92,021 consecutive pregnancies of known outcome from 1990 to 1993. Only 107 out of 779 malformed fetuses with CHDs without chromosomal anomalies were detected (13.7 per cent). The sensitivity of detection varied from 50 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 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 > 18 weeks' gestation and to train sonographers in order to improve prenatal detection of CHDs.

Abnormalities, Multiple↗
PubMed1997

[Anomalies of thyroid function in children with Down syndrome].

BACKGROUND: Abnormal thyroid function was shown in children with Down syndrome (DS). This study was undertaken in order to specify these anomalies. POPULATION AND METHODS: Thyroid function of 105 children with DS aged from 3 months to 20 years was studied by evaluation of serum concentration of thyrotropin, free T4 (FT4), free T3 (FT3) and reverse T3 (rT3). Each DS child was matched to a control of the same age. RESULTS: The mean concentration of thyrotropin of children with DS was increased while the mean concentration of rT3 of the DS children was significantly decreased compared with the controls, as was the ratio rT3/TSH. When DS children are split into two groups, those with and those without increased thyrotropinemia, a significant decrease in the ratio rT3/TSH appeared in DS children with increased thyrotropinemia whereas there is no difference between these two groups regarding to level of FT4, FT3, rT3 and zincemia. However, in all DS children serum zinc levels were lower than in controls. Thyrotropin levels rapidly normalized after thyroxin treatment. CONCLUSION: One half of the children with DS have increased thyrotropinemia and all have a decreased rT3.

Adolescent↗
PubMed1997

Brachydactyly and short stature in a mother and her daughter with a fragile site at 16q22.

A girl with short stature and brachydactyly had a fragile site at 16q22. Her mother had the same phenotype and the fragile site, too. These cases open the discussion of a possible association between a rare fragile site and an abnormal phenotype. Fragile sites are divided into two major groups, those which are rate and those which are common. The fragile site at 16q22 is a rare inductible fragile site. It is possible that the association between brachydactyly and the fragile site in a mother and her daughter may be due to chance. However rare fragile sites predispose to phenotypic abnormalities. The abnormal features in these two cases could be the result of the disruption of a gene involved in a skeletal development.

Abnormalities, Multiple↗
PubMed1997

Prevalence of neural tube defects in northeastern France, 1979-1994. Impact of prenatal diagnosis.

The objective of this study was to determine in total prevalence of neural tube defects (NTD) in northeastern France during 1979-1994 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 1979-1994 was 10.73 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 per cent for spina bifida. This birth prevalence was unchanged for encephalocele. This decrease for anencephaly and spina bifida 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.

Female↗
PubMed1997

Congenital eye malformations in 212,479 consecutive births.

Congenital eye malformations were studied in a small geographical area in 212,479 consecutive births. For each of the 145 new cases studied during the period 1979 to 1994, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital eye malformations was 6.8 per 10,000 for microphthalmia 1.7, anophthalmia 0.23, cataract 2.7 and coloboma 1.4 respectively. Sex ratio was 0.82. Prenatal diagnosis was performed in 18 cases and 7 cases were induced abortions. The more common types of associated malformations in the 81 affected cases (53.8%) with at least one anomaly other than an eye malformation were clubfeet, microcephaly, hydrocephaly, cleft lip/palate and facial dysmorphia. At birth infants with eye malformations and other malformations were smaller, weighted less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with eye malformations were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital eye malformations took more often drugs during pregnancy than mothers of controls. Fathers of children with congenital eye malformations were more often exposed to occupational hazards than fathers of controls. There was a significant association between eye malformations and consanguinity of parents. The recurrence risk for first degree relatives of probands was 8.9%. First degree relatives of probands had more than three times the prevalence of non-eye malformations than controls. These results are of relevance to genetic counseling.

Adult↗
PubMed1997

Risk factors in congenital anal atresias.

Congenital anal atresias were studied in a small geographical area in 225,752 consecutive births. For each of the 108 new cases studied during the period 1979 to 1995, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital anal atresias was 4.8 per 10,000 births. Sex ratio was 0.96. Prenatal diagnosis was performed in 14 cases and 11 cases were induced abortions. The more common types of associated malformations in the 45 non syndromic affected cases with at least one major anomaly other than anal atresia were renal agenesia, genital anomalies and ventricular septal defect. At births infants with anal atresia and other malformations were smaller, weighted less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with anal atresia were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital anal atresia took more often drugs during pregnancy than mothers of controls. Fathers of children with anal atresia were more often exposed to occupational hazards than fathers of controls. There was a significant association between anal atresia and consanguinity of parents (p < 0.05). The recurrence risk for first degree relatives of probands was 3.7%. First degree relatives of probands had more than twice the prevalence of non-anal atresia malformations than controls.

Adult↗