[Prenatal diagnosis of genetic diseases: Lausanne experience 1989-1993].
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Biomedical subjects
Publications and source records attributed to H Nguyen The.
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In this report we present our experience based on 570 chorionic villi samplings performed by the transcervical method at 8 to 12 weeks gestation. Cytogenetic results were obtained for 551 samples, hence a failure rate of 3.33%. The previously described technique was modified by prolonging the incubation period to 48 hours. The total number of abnormalities was 26, which represents 4.71% of our sample. Of 24 chromosomal abnormalities, 21 were unbalanced and 3 were balanced of parental origin. Five discordant cases are thoroughly discussed.
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Ultrasound is becoming more and more important in the routine care of antenatal patients. It makes it possible to diagnose a certain number of fetal abnormalities and in particular fetoplacental oedema whether it is caused by immunological or other factors. If oedema is associated with fetal cardiac arrhythmic conditions it can in certain cases be treated and cured in utero. This work analyses 11 cases of fetal oedema diagnosed by routine ultrasound in the years between 1977 and 1984.
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Prostaglandin F2-alpha was administered extra-amniotic as a gel through the cervix uteri to 100 patients in the 2nd trimester of pregnancy: 82 for termination of pregnancy, 17 for intrauterine death, and 1 for a hydatiform mole. The success rate was 96 p. 100. Mean duration of induction was 17 hrs 06 min., cervical priming lowered this duration to 11 hrs 40 min. (p less than 0.01). Extradural analgesia provided satisfactory pain relief and allowed a dilatation and curettage to be performed without recoure to a general anaesthetic. The technique described showed a lower incidence of side-effects than other modes of administration of PG F2-alpha, and proved to be effective, reliable, and acceptable to patients.