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Biomedical subjects

F W Luthardt

Publications and source records attributed to F W Luthardt.

11 recordsLinked to original sources

Transcervical chorionic villus sampling and midtrimester oligohydramnios.

To study the possible association between transcervical chorionic villus sampling and midtrimester oligohydramnios, we conducted a prospective cohort study of all women who were seen for genetic counseling in the first trimester during a 2-year period. Women who chose chorionic villus sampling were compared with women who chose traditional amniocentesis for incidence of midtrimester oligohydramnios. Of 442 women exposed to chorionic villus sampling with a normal fetal karyotype, severe oligohydramnios developed in 12 (2.7%) at 16 to 23 weeks' gestation. None of the 391 women with normal fetal karyotypes who were counseled at the same time in pregnancy but who chose amniocentesis had oligohydramnios at the time of amniocentesis (p = 0.01). A nested case-control analysis was performed within the chorionic villus sampling group to evaluate risk factors associated with midtrimester oligohydramnios. Midtrimester oligohydramnios occurring after chorionic villus sampling was associated with postprocedure bleeding and elevated maternal serum alpha-fetoprotein (p less than 0.01). There were no perinatal survivors with midtrimester oligohydramnios.

Adult

Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection.

We report three cases of amniocentesis in which mosaicism for trisomy 12 was detected in two or more independent cultures. The parents elected to terminate the pregnancy in all three cases. Follow-up studies in two of the cases confirmed the mosaicism in fetal tissues (in subcutaneous tissue in one case; in fetal lung in the other), but not in blood. No fetal anomalies were evident by ultrasound or at autopsy. These results along with other reported cases demonstrate the difficulty in counselling for mosaic trisomy 12.

Adult

Genetic amniocentesis: a twelve years' experience.

The first 2,013 fetuses in 2,000 patients undergoing genetic amniocentesis at our institution were analyzed for the incidence of abnormal findings and for the safety and accuracy of the procedure. One percent of the patients were found to have aneuploid fetuses and another 1% were found to have elevated amniotic fluid concentrations of alpha-fetoprotein. Advanced maternal age was the indication for amniocentesis in 84% of the women with aneuploid fetuses. Thirty-two (1.6%) of the pregnancies ended in spontaneous abortion and 35 (1.7%) were terminated because of abnormal results of the prenatal diagnostic procedure. Our error rate was 0.15%, and tissue culture was successful in 97.7% of the procedures. During the latter part of our experience concurrent ultrasonography was utilized with the amniocentesis, resulting in a reduction in blood-tinged specimens from 15.0% to 5.2%. In experienced hands, midtrimester amniocentesis for the purpose of prenatal diagnosis of genetically determined defects is a safe, accurate, and valuable procedure for the identification of fetal abnormalities.

Adult

Methylation of DNA in mouse early embryos, teratocarcinoma cells and adult tissues of mouse and rabbit.

The distribution and amount of 5-methylcytosine (5-MeCyt) in DNA was measured for early embryos of mouse strain CF1 (2 to 4 cell stage to blastocyst) and mouse teratocarcinoma cells. In each case, the pattern of methylation was examined by use of the restriction enzymes Hha I and HPA II HPA II, which cut DNA at the sites 5'GCGC and 5'CCGG respectively, when the cytosines at these sites are not methylated. Mouse embryo DNA was found to have the same level of methylation as adult mouse tissues, and no changes in methylation were seen during differentiation of the teratocarcinoma cells. The ratio of 5-MeCyt/Cyt in DNA was measured by high performance liquid chromatography for the differentiating teratocarcinoma cells and for several adult mouse and rabbit tissues. The variation between tissues or between teratocarcinoma cells at different stages of differentiation was less than 10 percent. These results are discussed in view of proposals that 5-MeCyt plays a role in differentiation.

Animals

Mitotic association patterns of nucleolar organizing chromosomes in the mouse.

Following the report of localization of nucleolar organizer regions to chromosome pairs 15, 18, and 19 of the mouse, a study was undertaken to test these chromosomes for association during mitotic metaphase. Cells from sevel strains of mice were analyzed, and no strong evidence was found for any significant association patterns.

Animals