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Biomedical subjects

A Tabor

Publications and source records attributed to A Tabor.

At least 55 records · Page 3Linked to original sources

Screening for Down's syndrome using an iso-risk curve based on maternal age and serum alpha-fetoprotein level.

On the basis of the significantly different distributions of maternal serum alpha-fetoprotein (AFP) levels in 86 pregnancies associated with fetal Down's syndrome and in 2018 unaffected pregnancies, an iso-risk curve for Down's syndrome was constructed. An iso-risk curve shows, for women of all ages, which combinations of maternal age and level of maternal serum AFP result in the same risk of carrying a fetus with Down's syndrome. A 1:400 risk of Down's syndrome, corresponding to the risk of a 35-year-old woman, was chosen as the lowest risk indicating referral for amniocentesis. If all women, irrespective of their age, are offered amniocentesis, when their risk of carrying a Down's syndrome fetus is 1:400 or higher, 53% of the affected fetuses can be detected as compared with 28% of the affected fetuses diagnosed at present in women above 35 years of age.

Adult↗

Incidence of rhesus immunisation after genetic amniocentesis.

Of 655 Rh negative women without anti-D antibody in their serum at genetic amniocentesis, 361 delivered a Rh positive infant. Prophylactic treatment with anti-D immunoglobulin was not given at amniocentesis. The women were followed prospectively, being given a screening test for antibody after amniocentesis, at delivery, and six months later. Five of these 361 women yielded a positive test result due to anti-D antibody. The immunisation rate after genetic amniocentesis was no higher than the spontaneous immunisation rate during pregnancy. Four women who had two amniocenteses in the same pregnancy and 34 women who had amniocentesis in two consecutive pregnancies with Rh positive fetuses were not immunised. Among six women with anti-D antibody in their serum before amniocentesis the titre of antibody increased in three. Amniocentesis may have worsened the outcome of these pregnancies. These results suggest that the risk of immunisation in Rh negative women is small.

Amniocentesis↗

Randomised controlled trial of genetic amniocentesis in 4606 low-risk women.

Outcome of pregnancy after amniocentesis was studied in a randomised controlled trial of 4606 women, age-range 25-34 years, without known risk of genetic disease. Spontaneous abortion rate was 1.7% in the study group after amniocentesis and 0.7% in the control group after ultrasound (relative risk 2.3). In the study group, increased levels of maternal serum alpha-fetoprotein before amniocentesis, perforation of the placenta during amniocentesis, and withdrawal of discoloured amniotic fluid were associated with an increased risk of spontaneous abortion. In the first six weeks after amniocentesis/ultrasound scan, amniotic fluid leakage occurred more often in the study group but there was no difference in the rate of vaginal bleeding. Frequency of postural malformations in the infants in the two groups was the same. In the study group, respiratory distress syndrome was diagnosed more often (relative risk 2.1) and more babies were treated for pneumonia (relative risk 2.5).

Abortion, Spontaneous↗

Fetal chromosome analysis: screening for chromosome disease?

The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2.4). Women with a known familial translocation and women 40 years or more have a relative risk of 5.7 of having an unbalanced chromosome abnormality compared with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications for amniocentesis should therefore be reconsidered. Because it must be considered impractical and ethically wrong to limit amniocentesis to the two mentioned real high risk groups, and illogical to continue to present policy, which is not based on clearcut evidence, the possibility of offering amniocentesis to all who want it, is discussed. Screening for chromosome disease in all pregnancies is not without problems, but may be reasonable in some localities.

Abortion, Spontaneous↗

Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.

A family in which an intestitial deletion of the X chromosome, del(X)(q13q21.3), is segregating was ascertained through a boy with cleft lip and palate, agenesis of the corpus callosum, and severe mental retardation. The possible causal relationship to his chromosome abnormality is discussed. Although the deletion occurred within the critical region, the mother showed no signs of gonadal dysgenesis. A phenotypically normal daughter was, as her mother, monosomic for this region of the X, and both showed random inactivation of the X chromosome.

Abnormalities, Multiple↗

The possible prognostic value of serum prolactin increment during pregnancy in hyperprolactinaemic patients.

In 15 hyperprolactinaemic, infertile patients achieving 17 bromocriptine-induced pregnancies, the presence or absence of prolactin (Prl) increment in the 3rd trimester of pregnancy was correlated to the basal Prl levels before treatment and after pregnancy. The hyperprolactinaemic patients revealed a marked heterogeneity in the Prl increment compared to normal women. Five patients showed a pronounced increase in serum Prl during gestation, whereas Prl levels were unaltered or decreased slightly in 10 patients. In the latter group of patients serum Prl was significantly (P less than 0.01) lower after pregnancy than before treatment. Our study indicates that some hyperprolactinaemic patients may benefit from a pregnancy, and that these patients probably can be identified, as they do not show any significant changes in Prl levels during pregnancy.

Adenoma↗

Prl, TSH, GH and LH responses to metoclopramide and breast-feeding in normal and hyperprolactinaemic women.

In order to evaluate whether hyperprolactinaemic patients have an increased or decreased central dopaminergic tonus, we compared the serum Prl, TSH, GH and LH responses to metoclopramide (10 mg iv) and to breast-feeding in normal women (n = 8) and hyperprolactinemic patients (n = 8). Prl increments to metoclopramide were significantly (P less than 0.05) impaired in hyperprolactinaemic patients. Serum TSH increased significantly after metoclopramide both in normal and hyperprolactinaemic patients (P less than 0.025), but no significant differences were found between the two groups regarding TSH, GH or LH levels. Hyperprolactinaemic patients had no acute response to suckling while significant increments of Prl and GH (P less than 0.025) occurred in normal women. Out data indicate that the central dopaminergic tonus was not altered in hyperprolactinaemic patients, but showed regulatory dysfunction of both Prl and GH. The concept of a dopaminergic inhibition of TSH secretion was confirmed.

Adenoma↗

45,X karyotype: may the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?

We report three cases of Turner's syndrome with cystic hygromata, which were diagnosed by routine ultrasound scanning before amniocentesis in the second trimester of pregnancy. Maternal and amniotic level of alpha-fetoprotein were normal. Karyotyping carried out afterwards showed a 45,X karyotype. Our data indicate, that cystic hygromata in Turner's syndrome may coexist with a normal amniotic fluid AFP, thus questioning the theory of leakage from the hygroma. It remains to be investigated if all cases of Turner's syndrome present a cystic hygroma in utero.

Adult↗

A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child.

A phenotypically normal mother had two apparently balanced translocations involving chromosomes 5, 7, and 12. Her karyotype was 46,XX,t(5;7) (5;12) (p14q34;p14;q21), while her daughter, who was also phenotypically normal, had inherited only one of the translocations. Her karyotype was 46,XX,-5,-7,+rec(5)t(5;7) (q34;p14)mat,+der(7)t(5;7) (q34;p14)mat. The other was lost during a meiotic crossing over, giving the daughter an apparently balanced chromosome complement.

Adult↗

Abnormal prolactin levels and pituitary-gonadal axis in the puerperium.

To investigate the influence of breast-feeding and prolactin secretion on the pituitary-gonadal function, 3 different groups of patients were studied during the first 8 weeks of the puerperium. Group A comprised patients with hyperprolactinemia and secondary amenorrhea who conceived while on a regimen of bromocriptine. Group B was composed of normal lactating women. Group C comprised nonlactating women treated with bromocriptine. Group A patients had a normal decline in serum prolactin levels during the early postpartum period, but serum prolactin remained completely unaltered after clearance of placental estradiol. In group B suckling increased serum prolactin and suppressed luteinizing hormone. This pattern was not seen in group A. Group C patients had a rapid postpartum normalization of the pituitary-gonadal axis. The results indicate that in relation to lactation the pituitary function is rather autonomous in hyperprolactinemic patients.

Adult↗