Overview

Of 646 cases involving first trimester chromosome analysis of chorionic villi sam- ples obtained by trans cervical aspiration, we found 34 abnormal unbalanced karyo- types. In six of these, fetal fibroblast cultures obtained after termination of the preg- nancy failed to confirm the abnormality. Three cases were mosaics identified from direct preparations: 46,XY/45,X; 46,XX/47,XX,+3; and 46,XY/47,XY,+18. In two cases of trisomy 16 (46,XY/47,XY,+16; 46,XX/47,XX,+16) and one oftriso- my18 (46,XX/47,XX,+18), no mosaicism was detected. In the other 28 cases with unbalanced abnormal karyotypes, there was karyotypic correspondence between villous cells at diagnosis and fetal fibroblasts. References 1. Benn P, Hsu L YF, Perlis T, Schonhaut A (1984): Prenatal diagnosis of chromosome mosaicism. Prenat Diagn 4: 1-9 2. Binkert F, Schmid W (1977) Pre-implantation embryos of Chinese hamster. I. Incidence ofkaryo- type anomalies in 226 control embryos. Mutat Res 46: 63-76 3. Boue J, Nicolas H, Barichard F, Boue A (1979) Le clonage des cellules du liquide amniotique, aide dans l'interpretation des mosaiques chromosomiques en diagnostic prenatal. Ann Genet 22:3-9 4. Hahnemann N (1973) Chromosome studies in induced abortions. Clin Genet 4: 328-332 5. Kalousek DK, Dill FJ (1983) Chromosomal mosaicism confined to the placenta in human con- ceptions. Science 221 : 665-667 6. Loft A, Tabor A (1984) Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy. Prenat Diagn 4: 51-59 7. Markert CL, Petters RM (1978) Manufactured hexaparental mice show that adults are derived from three embryonic cells.

Full Product Details

Author:   Marco Fraccaro ,  Giuseppe Simoni ,  Bruno Brambati
Publisher:   Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
Imprint:   Springer-Verlag Berlin and Heidelberg GmbH & Co. K
Edition:   Softcover reprint of the original 1st ed. 1985
Dimensions:   Width: 17.00cm , Height: 1.90cm , Length: 24.40cm
Weight:   0.820kg
ISBN:  

9783540157854

ISBN 10:   3540157859
Pages:   356
Publication Date:   01 September 1985
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Active
Availability:   Out of stock  
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Table of Contents

Long-term Follow-up Results After Aspiration of Chorionic Villi During Early Pregnancy.- Chorionic Villi Sampling: General Methodological and Clinical Approach.- Chorionic Villi Sampling in a High-Risk Population Using the Portex Cannula.- Technical Aspects of Chorionic Villi Sampling in First Trimester Fetal Diagnosis.- Single-Operator Aspiration of Chorionic Villi Using an Ultrasound-Guided Silver Cannula.- Chorionic Villi Sampling Using Rigid Forceps Under Ultrasound Control.- Direct Vision Technique for Chorionic Villi Sampling in 100 Diagnostic Cases.- Transabdominal Chorionic Villi Sampling for First Trimester Fetal Diagnosis.- Chorionic Villi Sampling by Means of a New Endoscopic Device.- A Modified Portex Cannula for Chorionic Villi Sampling.- Improved Echogenicity of the Catheter for Chorionic Villi Sampling.- Optimal Timing of Chorionic Biopsy and its Application in the Second Trimester of Pregnancy.- Microbiology of the Endocervix in Patients Undergoing Chorionic Villi Sampling.- Fetoplacental Products as a Prognostic Guide Following Chorionic Villi Sampling.- Ultrasonic Observation of Pregnancy During the First Trimester Using a Vaginal Approach.- New Sonographic Criteria in Monitoring the First Trimester of Pregnancy.- Cytogenetics of Chorionic Villi Sampling: Technical Developments and Diagnostic Applications.- Cytogenetic Findings in First Trimester Chorionic Villi Biopsies: A Collaborative Study.- Results of 180 First Trimester Direct Chromosome Studies in Chorionic Villi.- Mosaicism Confined to Chorionic Tissue in Human Gestations.- Discordance Between Prenatal Cytogenetic Diagnosis after Chorionic Villi Sampling and Chromosomal Constitution of the Fetus.- Mixed Karyotypes Obtained by Chorionic Villi Analysis: Mosaicism and Maternal Contamination.- Culturing Trophoblast Samples.- Choice of Medium for Cultivation and 24-Hour Incubation of Chorionic Villi: Selective Effects in Vitro.- Histologic Study of Tritiated Thymidine Incorporation by Trophoblastic Villi in the First Trimester.- Cytoskeletal and Lectin Markers for Cells Cultured from Chorionic Villi and Decidua.- Histomorphological Aspects of Chorionic Villi in First Trimester Fetal Diagnosis.- Chromosome Analysis of First Trimester Chorionic Villi Sampled by Chorionscope.- Effect of Incubation Time and Serum Concentration on the Number of Mitoses in Aspirated Villi Samples.- Freezing of Chorionic Villi.- Modified Method for Cytogenetic Studies on Uncultured Chorionic Villi.- G-Banding of Chromosomes from Chorionic Villi.- Biochemical Analysis of Chorionic Villi: A Worldwide Survey of First Trimester Fetal Diagnosis of Inborn Errors of Metabolism.- First Trimester Fetal Diagnosis: Principles and Potential Pitfalls in Enzymatic and Molecular Diagnoses.- First Trimester Prenatal Diagnosis of Metabolic Diseases.- Comparison of the Activities of 15 Lysosomal Enzymes in Chorionic Villi and in Cultured Amniotic Fluid Cells.- Activity of 30 Nonlysosomal Enzymes in Chorionic Villi.- Gene Dosage Effect in Chorionic Villi.- Prenatal Diagnosis of Menkes’ Syndrome by Direct Copper Analysis of Trophoblastic Tissue.- First Trimester Diagnosis in a Twin Pregnancy in Which the Mother is a Proven Carrier of the X-Linked Disorder Menkes’ Syndrome.- Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis.- Feasibility of First Trimester Diagnosis of ?-Thalassaemia Using DNA Posymorphisms in the Cypriot Population.- Prenatal Diagnosis of ?-Thalassemia by the Analysis of Trophoblast DNA with the Synthetic Oligomer Technique.- DNA Polymorphism Analysis in theItalian Population and Prenatal Diagnosis of Thalassemia.- First Trimester Diagnosis of Genetic Diseases by DNA Analysis of Chorionic Villi: Preliminary Experience.- DNA Polymorphisms and Fetal Sexing for X-Linked Disorders with Chorionic Biopsy.- Maternal Cell Contamination of Chorionic Villi Biopsy in a Pregnancy at Risk for Duchenne’s Muscular Dystrophy.- Pathology of Chromosome Abnormalities in First Trimester Embryos.- Assessment of the Safety and Accuracy of Chorionic Villi Sampling in First Trimester Fetal Diagnosis.- Methodological Problems in Determining Fetal Loss Rates: Relevance to Chorionic Villi Sampling.- Chorionic Villi Sampling: The McGill Randomized Clinical Trial of Safety and Accuracy.- Social Aspects of First Trimester Diagnosis.- Index of Authors.

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