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Biomedical subjects

S Girard

Publications and source records attributed to S Girard.

48 records · Page 3Linked to original sources

Unexpected structural chromosome rearrangements in prenatal diagnosis.

Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X-linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed.

Adult↗

The presence of alpha-interferon in human amniotic fluid.

Almost all the samples of amniotic fluid from 62 pregnant women from the 16th week to the end of the pregnancy contained detectable amounts of alpha-type interferon. The presence of this substance in amniotic fluid during pregnancy raises the question of the physiological significance of this finding. It is postulated that the amniotic type of alpha-interferon might be a product of a constitutive gene, rather than induced by latent virus infection.

Amniotic Fluid↗

Home and family correlates of prior drug involvement among institutionalized male adolescents.

The literature concerning drug abuse in adolescence has indicated that various aspects of the home and family background of a boy or girl may be important correlates of drug usage. Such correlates show differences in terms of form of measurement, specificity, and reliability. The present study is focused on a particular facet of this problem, namely prior drug abuse among a group of institutionalized Training School boys. Within this context it was hoped to obtain not only a broad spectrum of home and family variables but also, if feasible, global dimensions of this aspect of an adolescent's environment. All data come from case records.

Adolescent↗

An automatic system for chromosomal analysis applied to prenatal diagnosis.

Computer-assisted metaphase analysis for prenatal diagnosis can be economically performed by a preexisting hardware-software system. The program can be run by technician-level (i.e. nonspecialist) personnel who can opt for the automatic operational mode for good quality metaphases or for the semimanual mode for problem metaphases (numerous superpositions, artifacts, etc.). The karyotype can be obtained in conversational mode. Hardcopy output is available for all modes.

Chromosomes↗

Antenatal diagnosis in three pregnancies at risk for mannosidosis.

Three pregnancies were monitored in two families at risk for mannosidosis, alpha mannosidase and alpha fucosidase were determined on extracts from white blood cells of several members of these families, on fibroblast cell lines from the index cases and on uncultured and cultured amniotic cells of the foetuses. Two foetuses were diagnosed as affected and one as being free from the disease. The conclusions were confirmed on the affected foetuses after interruption of the pregnancy. The noticeable residual activity of alpha mannosidase found in some fibroblasts and cultured amniotic cells required complementary investigations (heat lability and dependency of substrate concentration) to reach a reliable diagnosis. Invesitgation of uncultured amniotic cells may give useful additional information.

Abortion, Induced↗

[Prenatal diagnosis of chromosome abnormalities. Three years of experience].

Six hundred and eighty one diagnoses were established by means of cell culture and chromosome analysis on amniotic fluid obtained either by late amniocentesis or at the time of therapeutic abortion. Each prenatal diagnosis involved: 1. Genetic consultation. 2. Supervision of the pregnancy before amniocentesis. 3. Amniocentesis in the obstetric department. 4. Confirmation of the diagnosis when an abnormality of the foetus was discolvered. 5. Supervision of the pregnancy following the anmiocentesis and examination of the infant at birth and during the first year of life. The indications for chromosome studies and the results are discussed.

Adult↗