Chorionic villus metaphase chromosomes and interphase nuclei analysed by chromosomal in situ suppression (CISS) hybridization

Abstract

Metaphase chromosomes and interphase nuclei of chorionic villus samples (CVS) in five cases were studied after treatment with trypsin and post-fixation in formaldehyde by chromosomal in situ suppression (CISS) hybridization. Our modified protocol enables the use of in situ hybridization techniques on CVS preparations after 42 h of culture. A balanced translocation and trisomy 13 were identified with the aid of CISS hybridization.

Rapid Prenatal Diagnosis of Chromosomal Aneuploidies by Fluorescence in Situ Hybridization: Clinical Experience With 4500 Specimens

“…The potential advantages of rapid aneuploidy detection for the health-care provider and patient are as follows: (1) FISH may be the optimal strategy for rapid confirmation of potential numerical chromosome aneuploidies when ultrasound reveals fetal abnormalities; (2) FISH coupled with traditional cytogenetics may, in certain circumstances, aid genetic counseling (Bajalica et al 1992; Klever et al 1992); and (3) early receipt of normal results has a positive effect on maternal/fetal attachment and decreases anxiety levels (Caccia et al 1991). The reduction of maternal anxiety through the rapid delivery of normal disomic results may be particularly advantageous for those women who exhibit high levels of anxiety during the time required for prenatal diagnosis.…”

Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis

“…Interphase cytogenetic analysis has been used recently to detect chromosomal aneuploidy for prenatal diagnosis of numerical chromosome abnormalities such as trisomy and triploidy in chorionic villous and amniotic fluid samples (Christensen et al 1991;Klever et al 1992;Klinger et al 1992;Kuo et al 1992). Statistical methods for differentiating normal and trisomic specimens were described by Klinger et al (1992).…”

“…The FISH protocol used was a modification of the procedure reported by Pinkel et al (1988). Some of the direct cytotrophoblast slide preparations were pretreated with 0.03% trypsin and subsequently fixed with 3.7% paraformaldehyde before hybridization according to the method described by Klever et al (1992). The prepared slides were pretreated with 0.1 M triethanolamine (pH 8.0)/0.25% acetic anhydride for 10 min at room temperature and denatured with 70% formamide/2 x SSC for 10 min at 70~…”

“…By using labelled probes that bind to specific regions of chromosomes, the presence or absence of specific chromosomes can be detected in interphase nuclei. This technique has been used for the detection of numerical defects or specific structural chromosomal rearrangements (Klever et al 1992;Bajalica et al 1992).…”

Application of fluorescent in situ hybridization for ‘de novo’ anomalies in prenatal diagnosis

“…The use of FISH in prenatal diagnosis for the identification of de novo structural anomalies, as in our cases 1 and 2, has to our knowledge not been described before. The prenatal cases in the literature concerned known familial translocations (Jauch et al, 1990;Klever et al, 1992;Rosenberg et al, 1992;Speleman et al, 1992) whilst the de novo cases were of liveborns (Sachs et al, 1992;Van Heme1 et al, 1992;Hulten et al, 1991;Jauch et al, 1990;Speleman et al, 1991).…”