Our main aim was to evaluate whether maternal whole venous blood could be used for determination of fetal sex, when no enrichment of fetal cells was attempted and when "standard" interphase cytogenetics and PCR analysis were adopted. Altogether 39 pregnant women were studied by using ISH and 59 by using PCR. Out of the 59 pregnant women, 26 carried a male fetus and 33 a female fetus. By ISH, Y-positive cells were detected in 12 of 19 pregnancies with a male fetus and in two of the 20 pregnancies with a female fetus. The frequency of the fetal cells ranged from 1 in 639 to 1 in 100,000. By nested PCR with primers flanking a Y-specific repeat sequence, the positive band indicating a male fetus was found in one of the 26 pregnancies with a male fetus and in one of the 33 pregnancies with a female fetus. According to our results, fetal cells in maternal blood cannot be reliably used for prenatal diagnosis without enrichment of fetal cells.
Interphase cytogenetics by means of in situ hybridization with the chromosome 12-specific biotinylated alpha satellite DNA probe pSP 12–1 was used for the study of trisomy 12, the most common chromosomal abnormality in chronic lymphocytic leukemia. In situ hybridization was performed on methanol/acetic acid fixed cells of conventional cytogenetic preparations from eight patients and on morphologically and immunologically classified cells of cytospin preparations from seven patients. The results show that trisomy 12 is more common than assumed on the basis of karyotype analysis of metaphase chromosomes: 2 of 13 patients with a normal karyotype in G-banding analysis were shown to have trisomy 12 by interphase cytogenetics. Immunophenotyping of the cells of one patient showed that the trisomy was restricted to cells with Ig light chain clonality. For the evaluation of the prognostic, therapeutic, and biologic significance of trisomy 12, in situ hybridization should be used in parallel with karyotype analysis because it allows the study of all cell populations of both interphase and mitotic cells, whether neoplastic or normal.
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