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Biomedical subjects

B Dott

Publications and source records attributed to B Dott.

70 records · Page 4Linked to original sources
PubMed1989

[Anomalies in thyroid function in children with trisomy 21].

Thyroid function of 60 children with Down (DS) aged 3 months to 16 years was studied by evaluation of serum concentration of ultra-sensitive thyroid stimulating hormone (TSH), free T4 and T3 (FT4, FT3), total T4 and T3 (T4 and T3) and reverse T3 (rT3). Each DS child was matched to a control of the same age. The concentration of TSH was increased in DS children while the concentration of rT3 of the DS children was significantly decreased compared to the controls as was the ratio rT3/TSH. These results showed that thyroid function of DS children is abnormal.

Adolescent↗
PubMed1988

[Etiologic and epidemiologic aspects of neural tube defects].

A case-control study of neural tube defects (NTD) was undertaken from 1979 to 1986 in the department of Bas-Rhin in Northeastern France. For 105,374 consecutive births the incidence of spina bifida was 0.62 in 1,000, the incidence of anencephaly was 0.33 in 1,000 and that of encephalocele was 0.14 in 1,000. Sex ratios were respectively 1.06, 0.64 and 0.75. Among the numerous etiological factors which were studied we observed a seasonal factor (more conceptions in April, less in September). Birth weight and length were lower in children with spina bifida than in controls. Metrorrhagia was more frequent during pregnancies with anencephaly as was oligoamnios in pregnancies with encephalocele. Routine US prenatal diagnosis, which was performed in 90% of the pregnant women, allowed diagnoses in 88% of the fetuses with anencephaly but only in 53% of the fetuses with spina bifida and in 64% of the fetuses with encephalocele. For these last two anomalies diagnosis could often be performed because a malformation was associated with a NTD.

Female↗
PubMed1987

[Congenital malformations in a series of 66,068 consecutive births].

Registration of congenital malformations began in 1979 in the French department of Bas-Rhin. 99.97% of all births were screened. We studied 66,068 consecutive births between 1979 and 1983. Malformations were present in 1.6% of neonates. The incidence of major malformations was 2.01%. The most frequent malformations consisted of congenital heart defects 33.9%). The incidence of the various congenital malformations was studied. Improvement of registration of congenital malformations was the consequence of postnatal and prenatal use of ultrasonography. An increase in the incidence of malformed neonates and fetuses was registered (1.31% in 1980; 2.13% in 1983). The number of termination of pregnancy because of the prenatal discovery of a major malformation has been increasing.

Abortion, Therapeutic↗
PubMed1986

Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis.

During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of the cases) or occasional (less than 1%, 9.4% of the malformed). Feasibility of prenatal diagnosis was considered. On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 64.1% of the mothers. Genetic counseling has to be given to couples at risk of having a malformed child. For this purpose, as is shown in our study, the best way is the possibility of using a registry of congenital malformations.

Abnormalities, Multiple↗
PubMed1985

A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.

A boy and his mother had dysmorphic features and accelerated growth of prenatal onset suggestive of the Weaver syndrome. Both had endocrinologic abnormalities. The boy had very low, hGH, which did not respond to stimulation. The mother had low, non-stimulate hGH hyperprolactinemia with secondary amenorrhea and galactorrhea. This is the first report of a mother to son transmission of the condition.

Abnormalities, Multiple↗
PubMed1985

[Correlations between pregnancy pathology, study of the placenta, antenatal echography and examination of the product of conception in a series of 175 congenital malformations].

In order to verify the hypothesis that during pregnancy in a woman without peculiar history, signs could be discovered when the fetus is malformed we have reviewed the files of 175 women who had a malformed child and of 300 controls. All of these women had at least one clinical examination and one ultrasonographic examination during pregnancy. Two clinical symptoms were more often discovered in the mother of the malformed fetus (p less than 0.001): decrease of fetal movements and small for date fetus. The placenta is never abnormal in the mother with normal fetus. Placenta is abnormal in 31% of the mother with malformed fetus but the abnormalities are not specific. Ultrasonographic examinations allowed more often the discovery of a malformation when hydramnios (p less than 0.001) or fetal hypotrophy (p less than 0.01) or an anomaly of the morphology of the fetus is discovered. Accuracy of prenatal diagnostic is considered for the different categories of congenital malformations.

Congenital Abnormalities↗
PubMed1984

Discordance for skeletal and cardiac defect in monozygotic twins.

A case of monozygotic male twins discordant for skeletal and cardiac defect is reported. One twin had the hemifacial microsomia type of the oculo-auriculo-vertebral dysplasia. The cotwin had no asymmetry of the face and normal ears, but preaxial polydactyly and ventricular and auricular septal defects. The cotwins were concordant for craniostenosis with a ridge metopic suture. Karyotypes were normal.

Diseases in Twins↗
PubMed1984

Trisomy 1q24----1q41 in two sibs with an insertion in an inverted chromosome 4.

We report two patients whose karyotype revealed an additional segment 1q inserted into an inverted chromosome 4. The patients were partially trisomic for the region 1q24----1q41, karyotype 46,XY or XX, inv ins(4;1)inv(4)(q28;q24q41)(p15 . 3q28), while in the mother the chromosomal aberration was balanced. The inserted segment was inverted. In six patients from three other families with insertions, the segment 1q25----1q32 was inserted into the short arm of chromosome 1. In another patient, the segment 1q25----1q42 of the mother was inverted and inserted into the long arm of chromosome 6. These findings suggest an increased susceptibility for a segment of the long arm of chromosome 1 to be inserted and inverted in rearrangements.

Abnormalities, Multiple↗
PubMedDate not supplied

Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination.

Ultrasound scans in the midtrimester of pregnancy are now a routine part of antenatal care in many countries. This type of screening procedure can detect serious foetal anomalies. Thanks to our registry of congenital anomalies a study was undertaken. The objective of the study was to evaluate prenatal detection of cleft lip (palate)(CL/P) by routine ultrasonographic examination of the foetus in 265679 consecutive pregnancies from 1979 to 1998. The percentage of prenatal detection of CL/P was low. For isolated malformation (foetuses with only CL/P) the detection rate was low: 17.8%; however, this detection rate increased from 5.3% during the period 1979-1988 to 26.5% during the period 1989-1998, for foetuses with associated malformations (foetuses with CL/P and one or more additional major malformations) these detection rates were 34.6, 13. 3 and 50.0%, respectively. In foetuses with associated malformations with CL/P this detection rate was higher for chromosomal abnormalities with CL/P and for non-syndromic, non-chromosomal multiply malformed children with CL/P than for non-chromosomal recognized syndromes with CL/P.

Abnormalities, Multiple↗
PubMedDate not supplied

Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births.

The aim of this study was to describe the prevalence at birth of two abdominal wall defects (AWD), omphalocela and gastroschisis and to identify possible etiologic factors. The AWD came from 265,858 consecutive births of known ouome registered in the registry of congenital malformations of Strasbourg for the period 1979 to 1998. Request information on the child, the pregnancy, the parents and the family was obtained for cases and for controls. Hundred five cases with AWD were analysed, 55.2 % were omphalocele and 44.8 % were gastroschisis. The mean prevalence rate for omphalocele was 2.18 per 10,000 and for gastroschisis 1.76 per 10,000. Associated malformations were found in 74.1 % of omphalocele compared with 53.2 % of gastroschisis; 29.3 % of fetuses with omphalocele had an abnormal karyotype, 44,8 % had a recognizable syndrome, association or an unspecified malformation pattern; 51.0 % of fetuses with gastroschisis had additional malformations that were not of chromosomal origin, but 1 case. Antenatal ultrasound examination was able to detect 39 (67.2 %) cases of omphaloceles and 27 (57.4 %) cases of gastroschisis. In 30 (51.7 %) cases of omphalocele and in 7 (14.9 %) cases of gastroschisis parents opted for termination of pregnancy. The overall survival rate was 14 (24.1 %) for omphalocele and 30 (63.8 %) for gastroschisis. Weight, length and head circumference at birth of infants with AWD were less than those of controls. The weight of placenta of infants with AWD was not different from the weight of placenta of controls. Gastroschisis was associated with significantly younger maternal age than omphalocele. Pregnancies with AWD were more often complicated by threatened abortion, oligohydramnios and polyhydramnios. Mothers of children with AWD took more often medication during pregnancy than mothers of controls.

Abdominal Muscles↗
PubMedDate not supplied

Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination.

The objectives of this study were to evaluate routine prenatal diagnosis of congenital heart diseases (CHD) by fetal ultrasound examination in a well-defined population during the period 1994-1999 and to compare these results with the results from 1979 to 1993. This study included 80,076 consecutive pregnancies of known outcome from 1994 to 1999. CHD were classified as isolated or associated when at least one other major extra-cardiac malformation was present. Only 137 out of 688 malformed fetuses with CHD without chromosomal anomalies were detected (19.9%). The sensitivity of detection varied from 61.9% for malformations such as isolated hypoplastic left heart and single ventricle, to around 7-19% for atrial and ventricular septal defects. Prenatal detection rate of CHD was 11.4% for isolated cases, and 40.2% for multiple malformed with CHD. The gestational age at discovery varied from 16 to 36 weeks. There is no upper limit for termination of pregnancies in our country; 12.3% of all pregnancies were terminated after prenatal diagnosis. However, 62% of the pregnancies with a CHD detected prenatally were terminated. The detection rate of CHD increased during time from 9.2% during the period 1979-1988 to 13.7% during the period 1990-1993 and to 19.1% during the period 1994-1999. Our study shows large variation in the prenatal detection rate of CHD. Prenatal diagnosis of CHD is significantly higher when associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects. The prenatal detection rate of CHD increased during time from 1979 to 1999.

Heart Defects, Congenital↗
PubMedDate not supplied

Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies.

The objectives of this study were to describe the impact of prenatal diagnosis on the birth prevalence of congenital anomalies over 21 years (1979-1999) in a well defined population in northeastern France (13,500 births per year). The material for this study came from the analysis of data from multiple sources on births and terminations of pregnancy after prenatal diagnosis of congenital anomalies in 279,642 consecutive pregnancies of known outcome. The study period was divided into three subgroups 1979-1988, 1989-1993 and 1994-1999. Between 1979-1988, 1989-1993 and 1994-1999, prenatal detection of congenital anomalies increased, respectively, from 12.0% to 25.5% and to 31.7%. Termination of pregnancy (TOP) increased in the same proportions during the three time periods. However, the increase of TOP was much higher for chromosomal anomalies than for nonchromosomal congenital anomalies. The birth prevalence of Down's syndrome fell by 80% from 1979-1988 to 1994-1999. Sensitivity of prenatal detection of congenital anomalies and TOPs were lower for isolated cases (only one malformation present in the fetus) than for multiple malformations in the same fetus. Sensitivity varied with the type of malformations: it was high for neural tube defect (79.7%) and urinary anomalies (50.7%) and low for congenital heart defects (16.4%). In conclusion, the introduction of routine prenatal diagnosis has resulted in a significant fall in the birth prevalence of children with congenital anomalies. However, this fall varied with the types of congenital anomalies.

Chromosome Aberrations↗
PubMedDate not supplied

Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol.

Maternal treatment with diethylstilbestrol (DES) during pregnancy can produce vaginal adenocarcinoma and other abnormalities of the vagina in her daughters when they reach adolescence or adulthood, miscarriages and absence of full term infants. Concerning malformations in newborns whose mothers were treated with DES, clitoromegaly and malformations of the uterus were reported in females and genital lesions in males. However, the frequencies of major congenital anomalies were not greater than expected. We report three cases of limb reduction defects (LRD) in the first generation of children whose mothers were treated with DES during pregnancy, and two children (one male, one female) with deafness in the second generation after intrauterine exposure to DES. The LRD were not associated with other congenital anomalies. The malformed children with LRD were born between 1965 and 1973. The deafness was also isolated. The two mothers who have no hearing problems and who are healthy were exposed in utero to DES in 1963 and 1965, respectively. Their children were born in 1989 and 1994, respectively. In conclusion, the association of LRD and hearing loss with intrauterine exposure to DES could be coincidental. However, some hypothesis may explain these associations. Congenital hearing loss in the second generation may suggest a transgenerational effect.

Adult↗
PubMedDate not supplied

Maternal trace elements, vitamin B12, vitamin A, folic acid, and fetal malformations.

The demonstrated teratogenicity of maternal zinc deficiency in rats has led to burgeoning interest in zinc and other trace elements as important factors in embryonic development. Levels of zinc, copper, manganese, magnesium, folic acid, vitamin B12 and vitamin A were evaluated at the beginning of pregnancy in the plasma of pregnant women who later delivered a malformed newborn. Fetal chromosomal anomalies and recognizable nonchromosomal syndromes were excluded. The results were compared to control women who delivered normal babies. One hundred seventy mothers had malformed children. The more frequent congenital malformations were congenital heart diseases (72 cases including 24 VSD), musculoskeletal malformations (21 cases), urogenital malformations (23 cases), spina bifida (6 cases), hydrocephaly (6 cases), and labial cleft (14 cases). Maternal plasma concentrations of zinc, copper, magnesium, manganese, folate, vitamin B12, and vitamin A of malformed children did not differ from controls. Thus vitamin profiles do not form a suitable means for identifying women at risk for having a child with congenital malformations.

Congenital Abnormalities↗