Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter's syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner's syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down's syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.

Placental abruption. A case-control investigation.

The course of pregnancy and labour, neonatal outcome and social circumstances, were compared between 87 women with placental abruption and a control group of 5697 women. First and second trimester haemorrhage, amniocentesis, congenital malformations, maternal smoking and a job involving much standing or walking were associated with placental abruption.

Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

A 13-year incidence study of sex chromosome abnormalities in Arhus, Denmark of 34,910 newborn children showed that 1 per 448 had a sex chromosome abnormality. The incidences of the most common sex chromosome abnormalities were Klinefelter syndrome, 1 per 576 boys; XYY, 1 per 851 boys; triple X, 1 per 897 girls; Turner syndrome, 1 per 2130 girls. Follow-up of children with autosomal abnormalities is not included in this study. None of the 78 surviving children with sex chromosome abnormalities was mentally retarded. All children above school age attended regular schools. Seventy-seven percent of Klinefelter, triple X, and XYY children aged 15-19 had received remedial teaching, 29% were receiving remedial teaching at the last follow-up, 32% had been in special classes at a regular school due to learning problems, and 24% were still in such classes at the last time of follow-up. There was no increased frequency of criminal activity or behavior disorders, nor was there any increased frequency of mental or physical disorders. The distribution of planned training or occupation for the 25 youths with sex chromosome abnormalities between 15 and 19 years of age was similar to that of their sibs. Testosterone undecanoate treatment has been given to Klinefelter boys from puberty and growth hormone treatment to Turner girls from the age of 7, and very small doses of estrogen were given to these girls from around the age of 12 when FSH was increasing to postmenopausal levels. Prevention or reduction of deviations in mental development from the normal range in children with sex chromosome abnormalities is possible if educational and social resources are available and the parents are well informed and counseled regularly. Information in Denmark has been given in part by publishing four booklets about triple X, XYY, Turner, and Klinefelter syndrome. Information, support, and stimulation to self-help have, to a certain extent, been given through contact groups. Parents having a child with a sex chromosome abnormality need information, counseling, and assistance. The type and magnitude of this assistance depend on the individual child, the specific sex chromosome abnormality, and the parents' own resources, psychologically, socially, and otherwise.

[The relation of birth weight and gestational age in a group of infants in Jutland with special reference to diagnosing infants with intrauterine growth retardation]. / Sammenhaengen mellem fødselsvaegt og gestationsalder blandt en gruppe jyske børn med henblik på at diagnosticere intrauterint vaekstretarderede børn.

The relationship between birthweight (BW) and gestational age (GA) in 14,276 Danish children with GA of 35 to 42 completed weeks was illustrated employing 10%, 50% and 90% percentile curves. The curves were sex-specific. The number of light for dates (LFD) children defined by means of the 10% percentile (BW below 10th percentile) was 1,351 compared to 848 children when using the curve currently employed. The latter curve was based upon foreign children and moreover was not sex-specific. It is concluded that sex-specific and updated curves representing the population studied are mandatory in the diagnosis of LFD-children.

[The course of delivery in a group a low-risk primipara women]. / Fødselsforløb hos en gruppe lavrisiko-primiparae.

The course of delivery in 1,545 primiparae who were considered to be in the low-risk group at the commencement of labour as assessed by the previous directives issued by the Danish Ministry of Health (1976) were reviewed. 2/3 were delivered normally as episiotomy was not regarded as a complication. 1/3 had complicated deliveries. In 350, the contractions were abnormal and intervention was required. 1/3 of these were delivered instrumentally. Haemorrhage of more than 500 ml, intrauterine asphyxia and Apgar score less than or equal to 7 at 1 minute occurred frequently in this group. A total of 1,195 did not receive treatment to improve contractions and, in this group, instrumental delivery was undertaken in 10%. Following normal labour pains and spontaneous delivery, complications in the third stage were observed in 77 out of 1,075 patients, including haemorrhage of more than 500 ml in 38 patients. Six infants in this group had Apgar scores less than or equal to 7 at 5 minutes. In the group with abnormal contractions and/or instrumental delivery, haemorrhage of more than 500 ml, retention of the placenta and signs of perinatal asphyxia occurred, however, significantly more frequently. The authors consider that home deliveries in primiparae cannot be recommended. Primiparae should be advised to be delivered in hospital as it is not always possible to predict complications.

[Breech presentation deliveries]. / Fødsel med foster i underkropspraesentation.

A total of 5,519 consecutive single deliveries at term were analysed for maternal and foetal factors associated with breech presentation (UK). The protocol in this department for breech deliveries which permits vaginal delivery of foetuses estimated to be between 2,400 and 3,800 g in cases where the pelvis was considered to be clinically normal, was also evaluated. Breech presentation was found in 173 cases. In 102 of these circumstances were present which permitted trial of vaginal delivery. Seventy-seven were delivered vaginally. An increased frequency of low Apgar scores (less than 8) after one minute was demonstrated among infants delivered vaginally in the breech presentation on comparison with infants delivered by Caesarean section, whereas low scoring after five minutes occurred with the same frequency. One infant died during delivery. Follow-up of infants delivered in breech presentation (mean period of observation two years) showed developmental disturbances in three of the vaginally delivered infants and in five of those delivered abdominally. Two of the infants delivered abdominally had severe cerebral paresis and psychomotor retardation without evidence of intrauterine or severe neonatal asphyxia. On comparison with the population delivered in cephalic presentation (HST), significantly increased frequencies of primiparity and light-for-dates infants were found in the breech presentations. Low Apgar score after one minute was significantly more frequent in breech presentations while low Apgar scoring after five minutes occurred with the same frequency. The perinatal mortality rates in breech and cephalic presentations were 17.3 and 4.7 per 1,000 respectively. Following correction for lethal malformations, the rates were 5.8 and 3.8 per 1,000, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

A genotoxic study of metal workers exposed to trichloroethylene. Sperm parameters and chromosome aberrations in lymphocytes.

Metal workers exposed to trichloroethylene for the degreasing of metals were studied to evaluate the genotoxicity of this exposure. For 15 workers presently exposed to high doses of trichloroethylene there was no difference from unexposed persons with respect to sperm count and morphology, and a small increase of two fluorescent bodies (YFF%) in spermatozoa. In contrast, there was a highly significant increase in frequency of structural aberrations (breaks, gaps, translocation, deletions, inversions) and hyperdiploid cells in cultured lymphocytes from trichloroethylene degreasers. As control groups, physicians from chemically non-exposed surroundings and a concurrently sampled reference from cytogenetic investigations were used. This study indicates positive correlations between exposure to trichloroethylene and somatic chromosome aberrations, whereas no effect on male germ cells could be demonstrated.

Short stature in Scandinavian women. An obstetrical risk factor.

We have carried out a case-controlled study on relations between short stature (i.e. less than 156 cm tall) and problems with childbirth in Danish women. Data obtained from 182 pregnant, short women (short mothers) were compared with those obtained from a control group of 2116 pregnant women who were between 166 and 175 cm tall (control mothers). The prevalence rate for acute cesarean section was three-fold greater in short mothers than in controls, and the prevalence rate for elective cesarean section was twice as high in short mothers as in controls. Moreover, the prevalence rates of intra-uterine asphyxia, intra-uterine growth retardation and low Apgar scores were higher in babies of short mothers than in those of control mothers, despite the increased level of obstetric intervention in the former group. Since the findings show that short stature in pregnant women is an obstetrical risk factor, we recommend that it should be given attention in order to detect early signs of intra-uterine asphyxia and to apply the best form of active management of labor if necessary.

The impact of large Y chromosome on pregnancy, foetus and birth.

In a current investigation of children born in the Arhus area (Denmark) chromosome examinations were made in 6,691 newborns. Of these children, 170 boys had a large Y chromosome (2.6%). The present material was examined using a bi-variate stratified analysis to eliminate social and simple biological factors that could act as confounders. No increased frequency of malformations was found, and birth weight and length was nearly equal in the probands and the controls. A significantly increased frequency of prostaglandin stimulation of labour was found for the mothers of the Yq+ boys. Differences in the frequency of mechanical disproportion or abnormal presentation could not explain this. The Yq+ boys suffered more frequently from intrauterine asphyxia leading to acute Caesarean section. This finding cannot be explained by long-standing placenta problems alone. A possible mechanism which could link these findings together is suggested, and it is concluded that the boys with Yq+ most probably should be regarded as being at a certain risk at the time of birth.

Calcium, parathyroid hormone and calcitonin in normal pregnancy and preeclampsia.

Calcium, parathyroid hormone (PTH) and calcitonin (CT) in serum, and the fractional renal excretion of calcium (FECa) were determined in (1) normal pregnant women, (2) patients with preeclampsia, and (3) normal nonpregnant control subjects. Serum calcium, corrected for individual variation in serum protein, was reduced and FECa increased in the normal pregnant group when compared to the nonpregnant control group. In preeclampsia serum calcium did not differ significantly from the normal pregnant group, but FECa was considerably lower and also reduced below the level in the nonpregnant control group. PTH was slightly lower during normal pregnancy than after delivery, but did not deviate significantly from the nonpregnant control group; in preeclampsia PTH did not deviate significantly from the levels in normal pregnancy. CT was the same in the third trimester of pregnancy in both groups. Changes in serum calcium and FECa were not correlated to PTH or CT. It is concluded that both normal pregnancy and preeclampsia are accompanied by considerable alterations in calcium metabolism, that PTH and CT in both groups are mainly unchanged and at nonpregnant level, and that the increase and decrease in renal calcium excretion in normal pregnancy and preeclampsia, respectively, may be attributed to changes in kidney function.

Circulating immune complexes and hypertension in pregnancy.

Eighteen patients with pre-eclampsia, 10 patients with essential and 9 with transient hypertension during pregnancy, were investigated regarding circulating immune complexes by a Clq-binding assay and a PEG precipitation assay. The women were studied during pregnancy, 2 and 5 days after childbirth, and also 3 and 6 months afterwards. The frequency of circulating immune complexes was not significantly increased in any of the groups when compared with that in 18 normotensive pregnant control subjects and 19 non-pregnant controls. Thus Clq-binding and PEG-precipitable immune complexes are a feature neither of normal pregnancy, nor of pregnancy complicated by hypertension or pre-eclampsia.

Preeclampsia -- a state of prostaglandin deficiency? Urinary prostaglandin excretion, the renin-aldosterone system, and circulating catecholamines in preeclampsia.

Urinary excretion of prostaglandin E2 (PGE2) and F2 alpha (PGF2 alpha), plasma concentrations of renin, aldosterone, norepinephrine (NE) and epinephrine (E) were determined during pregnancy, 5 days, 3, and 6 months after delivery in preeclampsia, normotensive pregnant, and nonpregnant control subjects. The PGE2 was higher in normotensive pregnant control subjects than in nonpregnant subjects. In preeclampsia, PGE2 was reduced to nonpregnant level. PGF2 alpha was the same in preeclampsia and in normotensive pregnancy, but elevated when compared to the normotensive nonpregnant control group. Plasma concentrations of renin and aldosterone were increased during pregnancy, but considerably less in preeclampsia than during normotensive pregnancy. NE and E were the same as in nonpregnant subjects during both hypertensive and normotensive pregnancy. All parameters were normal 3 months after delivery. There were no correlations between PGE2, PGF2 alpha, plasma concentrations of renin, aldosterone, NE, or E and blood pressure level in third trimester either in preeclampsia or in normotensive pregnancy. PGE2 was positively correlated to plasma concentrations of renin. It is suggested that the lack of renal PGE2 in preeclampsia might be responsible for the decrease in renal blood flow and sodium excretion. It is hypothesized that preeclampsia is a state of prostaglandin deficiency. The changes in the renin-aldosterone system may be secondary to changes in prostaglandin concentration both in preeclampsia and normotensive pregnancy.