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Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 181 records · Page 10Linked to original sources
PubMed1990

Epidemiology of Down syndrome in 118,265 consecutive births.

The epidemiology of Down syndrome (DS) was studied in the area which is covered by our registry of congenital malformations. For each of the 139 new DS cases which were ascertained during the period 1979 to 1987 more than 50 factors were studied and compared to those from control infants. The prevalence of DS was 1.17%; 3.6% of the DS cases were stillbirths and 14.4% were induced abortions. Karyotypes were obtained in 137 cases of which all but 7 were 47, + 21, 4 were mosaics (2.8%), and 5 had translocations (3.6%). Interchromosomal effect was a question in 3 cases. The most common types of associated malformations were cardiac anomalies (44.6%) and intestinal atresia. We did not observe seasonality or time/space clusters in spite of the Chernobyl nuclear accident. No paternal age effect was demonstrated. In our material the first-born infants were at lower risk of DS than the later born. Five percent of the mothers of DS had 2 previous spontaneous abortions (controls 2.8%). At birth, the DS infants measured less and their head circumference was lower than in control infants. Weight of placenta was also lower than in control infants. In our material there were 7.9% of consanguineous marriages (P = .010). The pregnancies of the DS children were often complicated by threatened abortions; 6.4% of the mothers of the DS children were diabetic (P = .069). For all other factors studied no statistically significant difference with respect to controls could be demonstrated.

Abortion, Induced↗
PubMed1990

Risk factors in internal urinary system malformations.

Risk factors were studied in 370 children with internal urinary system (IUS) anomalies, coming from 105,374 consecutive births of known outcome. The incidence of IUS malformations was 3.51 per 1,000 births. Diagnosis was performed prenatally in 54.4% of patients. Two hundred and fifty-two patients had isolated IUS anomalies; 118 (31.8%) of the children had at least one non-urinary malformation. Fifty-five infants (14.8%) had recognized chromosomal and non-chromosomal syndromes. The more frequent non-urinary malformations were cardiac, digestive and limb anomalies. For each case a control was studied. The following features were assessed: sex ratio, parity and previous pregnancies, parental age, residency, education, ethnic origin, length, head circumference and weight at birth, genetic and environmental factors. Odds ratio values were calculated for risk factors. Weight, length and head circumference at birth were less than in the controls and the weight of the placenta was lower. Pregnancies with IUS anomalies were more often complicated by oligo-amnios and threatened abortions. Oligo-amnios was more frequent in pregnancies in which babies had multiple malformations and recognized syndromes with IUS anomalies. One child of every three with IUS anomalies had an extra-urinary malformation, which is 12 times the incidence of such malformation in our population. There was an increase in consanguinity in the parents of our patients. The incidence of IUS anomalies in first-degree relatives was 2.9%. First-degree relatives had more non-urinary malformations than controls (7.02 vs 3.2%). Our study demonstrated the high capacity of a general ultrasound screening programme to detect fetal malformations affecting the urinary tract.

Birth Weight↗
PubMed1990

Genetic and environmental factors in hypospadias.

A case control study of hypospadias was performed from 1979 to 1987 in Alsace, north-eastern France. A total of 176 out of 60 847 male infants had hypospadias giving a prevalence at birth of 2.89 per 1000 male newborns; 15.3% of all infants with hypospadias also had other malformations. Renal and urinary tract malformations were present in 37.0% of the infants with hypospadias and other additional malformations. None of the numerous aetiological factors which were studied was correlated with hypospadias except low weight of the placenta. The recurrence risk for brothers was 17.0% (an empirical risk of about 1 in 6) and the heritability coefficient was 56.9%. First degree relatives of infants with hypospadias had more malformations other than hypospadias than controls. These results have to be taken into consideration for genetic counselling.

Case-Control Studies↗
PubMed1990

[An epidemiological study of oligohydramnios associated with congenital malformations].

Our registry of congenital anomalies allows us to study systematically pregnancies which ended in the birth of a malformed child. Over 8 years 105,374 births were registered. A control was selected for each malformed baby. Numerous factors are studied. One of them is oligohydramnios. During the study period 199 children carriers of at least one congenital major malformation were born after a pregnancy complicated by oligohydramnios; which represent an incidence of 1.88%. Overall 2,787 malformed children were born during the study period, 7.14% of them were born after oligohydramnios (controls 1.6%, p less than 0.001). The malformations which were more often associated with oligohydramnios involved the urinary system (15.9%), the digestive system (10.2%), the genital system (5.9%) and the limbs (5.7%). A chromosomal aberrations was present in 11 infants (5.5%). Most of the isolated malformations were not associated with oligohydramnios, whereas the pregnancies which ended with the birth of a malformed baby were often complicated by oligohydramnios. Therefore when a fetal malformation is discovered during pregnancy the obstetrician should not be satisfied with the discovery of one anomaly associated with oligohydramnios. He (she) has to look carefully for other associated fetal malformations. The weight, the length and the head circumference at birth of the children born after oligohydramnios were less than those of the controls (p less than 0.001). The length of gestation was shorter (p less than 0.01). The weight of the placenta was smaller. In this study the only maternal factors which favoured the occurrence of oligohydramnios were diabetes and epilepsy.

Birth Weight↗
PubMed1990

[Oligo-elements of the amniotic fluid from normal, hypotrophic and trisomy 21 fetuses].

Oligo-elements concentrations were measured between 16-18 weeks of normal pregnancy in the amniotic fluid of 84 women who delivered children with a normal weight, 16 women who had term delivery of hypotrophic children, and 7 women who delivered trisomic children (5 trisomy 21, one trisomy 18 and one trisomy 10p). Copper, zinc, bromine, lead, rubidium assays were carried out using fluorescence X spectrophotometry with dispersion of energy. The oligo-elements levels are not different in the three groups of amniotic fluid: hypotrophic, trisomic or normal fetuses. These results are compared with those previously reported.

Adult↗
PubMed1990

[Maternal oligo-elements and fetal malformations].

Serum levels of zinc, copper, manganese, magnesium, folates and vitamin B12 and A, were titrated in the early stage of pregnancy in women who delivered children presenting malformations. These levels were compared with those of control patients who delivered normal children. There were 65 malformations. The most frequent were cardiac, musculo-skeletal, urogenital and chromosomal malformations. Only 2 cases of spina bifida were studied. The oligo-elements and vitamin levels are not different in both groups of women: those who carry malformed fetuses and those carrying normal fetuses. These results are compared with those from the literature.

Congenital Abnormalities↗
PubMed1989

Risk factors in congenital heart disease.

Risk factors were studied in 801 children with congenital heart disease (CHD) coming from 105,374 consecutive births of known outcome. The incidence of CHD was 7.60%. Diagnosis was performed in 66.5% of the cases during the perinatal period. Two-hundred-fifty seven of the cases also had at least one non-cardiac malformation (multiply malformed). Ninety-two cardiac infants (11.47%) had recognized chromosomal and non-chromosomal syndromes. The most frequent noncardiac malformations were renal, digestive and limb anomalies. For each case a control was studied. The following features were screened: sex ratio, parity and previous pregnancies, parental age, residency, education, ethnic origin, length, head circumference and weight at birth, genetic and environmental factors. Odds ratio values were calculated for the risk factors. Weight, length and head circumference at birth of cardiac infants were less than those of controls. The weight of placenta was also lower than in controls. The pregnancy with CHD was more often complicated by hydramnios and threatened abortions, except in infants with isolated CHD. Oliogoamnios was more frequent in pregnancies producing multiply malformed infants and those with recognized syndromes with CHD. One out of four children with CHD had an extracardiac malformation, which is ten times the rate of incidence of malformation in our population. The incidence of CHD in first degree relatives of these infants was 3.0%. These first degree relatives also had more non-cardiac malformations than did those of the controls.

Abnormalities, Multiple↗
PubMed1989

Incidence of congenital rubella syndrome in 19 regions of Europe in 1980-1986.

Twenty-five cases of congenital rubella syndrome were recorded in 1,458,126 live births in 19 EUROCAT birth defects registries from 1980 to 1986. During the study period, the incidence declined steadily from 3.50 to 0.41 per 100,000 births. Rubella infection occurred in 12 multiparous women indicating failure in immunization programme.

Cross-Cultural Comparison↗
PubMed1989

Acetylator phenotype and congenital malformations.

The hypothesis has been tested that an unusual maternal acetylator phenotype can predispose to congenital malformations in the fetus. The acetylator phenotype of normal caucasian control women and of mothers of malformed children was established by measuring urinary sulphadimidine and its acetylated metabolite. A further control group was the fathers of the malformed newborn. The malformations studied were facial-cleft, spina-bifida and congenital heart disease. The acetylator phenotype was shown not be modified by pregnancy. 49 of 100 (49%) control women were rapid acetylators. Amongst the 108 mothers of malformed babies, 56 (52.8%) were slow acetylators and 52 (47.2%) were fast acetylators, 42 out of 83 (50.5%) of the fathers of malformed were slow acetylators and 41 (49.5%) were fast acetylators. Thus, the acetylator phenotype of the mothers of malformed children is no different from the acetylator phenotype of controls.

Abnormalities, Multiple↗
PubMed1989

Birth prevalence rates of skeletal dysplasias.

This study establishes the prevalence rates at birth of the skeletal dysplasias which can be diagnosed in the perinatal period or during pregnancy. Using a population-based register of congenital anomalies, a prevalence rate of 3.22 0/000 was observed. The most frequent types of skeletal dysplasia were achondroplasia and osteogenesis imperfecta (0.64 0/000, 1/15,000 births), thanatophoric dysplasia and achondrogenesis (0.28 0/000). The mutation rate for achondroplasia was higher in our material than in the other studies: 3.3 x 10(-5) per gamete per generation. Our study demonstrates that prenatal diagnosis by ultrasound is possible in some skeletal dysplasias.

Cross-Sectional Studies↗
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

HLA and Down syndrome (DS): parents at the origin of the nondisjunction share no more HLA-A and -B antigens with their DS child than controls.

Fifty couples and their children with Down syndrome (D.S.) were typed for HLA-A and HLA-B antigens and compared to 50 control families and 464 blood donors. The parental origin of the extra chromosome 21 was determined by cytogenetic methods. All individuals were caucasians and there was no history of consanguinity. No excessive HLA sharing was present in D.S. parents. The mothers of D.S. shared no more HLA antigens with their D.S. children than the control mothers with their normal children (14% vs. 18%). Thirteen of the fifty pairs (26%) (parent in whom the nondisjunction occurred and D.S. child) shared three HLA antigens at the A and/or B locus. This was not significantly higher than the proportion in the control group (12/50 or 24%). These data suggest that it is not the sharing of HLA-A and HLA-B antigens between the parents or between the parent who was the origin of the nondisjunction and the D.S. child that is related either to the occurrence of trisomy 21 zygotes or to prenatal survival of affected embryos and fetuses.

Adult↗
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

[Not Available].

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Expeditions↗
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↗