The fra(X) chromosome was detected in 5 samples of amniotic fluid cells in a series of 23 pregnancies at risk. The prenatal results were confirmed in 2 male abortuses, one with a relatively high and one with a very low frequency of expression in both amniocytes and fetal tissue. In a third male fetus with low expression in amniocytes, the fra(X) was not detected in the fetal tissues tested. In another male with low expression in amniocytes the fra(X) was not detected after birth. In one female with a low expression in amniocytes, a very high frequency (28%) was detected in cord blood after birth. Low expression of the fra(X) was found in a 4-year-old normally developed girl, where the prenatal results had been negative. In 4 males and 4 females the negative prenatal diagnoses were confirmed after birth. This study indicates that prenatal diagnosis of the fragile X after amniocentesis may be complicated, either due to technical problems related to the use of amniotic fluid cells, or due to genetic heterogeneity, or both. Part of this heterogeneity could be due to the existence of normal male transmitters. Also, it seems that the frequency of expression in amniocytes from female carriers can not be used for the prediction of the frequency in blood after birth.

Amniocentesis↗

PubMedDate not supplied

Amniotic fluid pregnancy-specific beta 1-glycoprotein (SP1) in fetal developmental disorders.

Concentration of pregnancy-specific beta 1-glycoprotein (SP1) was studied in second and third trimester amniotic fluid from pregnancies with various fetal developmental disorders. The material consisted of 26 cases with chromosomal disorders and 19 cases with non-chromosomal fetal malformations. The SP1 concentration was elevated in two cases of Meckel's syndrome (mean +2.7-4.0 S.D.) as well as in one case of fetal triploidy (mean +22 S.D.), while it was normal in all other 14 different fetal disorders.

Abnormalities, Multiple↗

PubMedDate not supplied

Lysosomes and virus induced chromosomes breaage.

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Acid Phosphatase↗

PubMedDate not supplied

Acceptance of genetic testing in a general population: age, education and gender differences.

The aim of the study was to analyze effects of age, education and gender on acceptance of genetic testing. Subjects, n = 1967 aged 15-69, were a stratified random sample of the Finnish population. One thousand, one hundred and sixty nine subjects, 530 men and 639 women, returned the questionnaire. The majority of the respondents approved of the availability of genetic testing. Young, aged 15-24, were more favourable towards testing and more willing to undergo suggested tests, but they were also more worried than others about the misuse of test results. Men aged 45-69 with only basic education were more in favour of mandatory genetic testing than other respondents. Respondents with university education were more critical towards genetic testing and expressed their worry about eugenics more often than other education groups. In conclusion, there are age, education and gender related differences in acceptance of genetic testing which need to be taken into account when considering screening programmes and informing the public.

Adolescent↗