Chapter category: Reproductive Biology
Prenatal Detection of Chromosome Abnormalities
Cytogenetics in Reproductive Medicine
Edited by: Dagan WellsISBN: 1-58706-205-4
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Chapter authors:
Brynn Levy and Nataline Kardon
Chromosome abnormalities have been diagnosed from prenatal specimens for almost 40 years. In the United States, the current standard of care in obstetrical practice is to offer either chorionic villus sampling (CVS) or amniocentesis to women at increased risk for having a fetus with chromosome abnormalities. Advanced maternal age is associated with an increased risk of chromosome abnormalities and is the most common indication for prenatal cytogenetic testing. While there is a large spectrum of chromosome abnormalities that are observed in spontaneous abortions, the majority of these abnormalities are nonviable and do not survive beyond the first trimester. Consequently, the range of chromosome abnormalities observed at the time of prenatal diagnosis differs from those reported in miscarriage specimens. Traditional cytogenetic analysis has an accuracy of greater than 99% for detecting chromosomal abnormalities such as aneuploidy, polyploidy and structural abnormalities. Newer molecular cytogenetic techniques like fluorescence in situ hybridization (FISH) offer a rapid way to screen for common aneuploidies and are very useful in specific clinical situations. Genetic counseling plays a crucial role in disseminating accurate information concerning the implications of a chromosome abnormality detected prenatally as well as coordinating the appropriate management and follow-up.
Additional chapters from this book:
Cytogenetics of Human Preimplantation Embryos
J.D.A. Delhanty* and D. Wells
Chromosomal abnormalities are common at all stages of human development and are the main cause of lethality between conception and birth. In natural conceptions the fecundity rate is about 25% w...
Uterine Leiomyomata: Aspects in Reproduction, Susceptibility, and Tumor Cytogenetics
Jennelle C. Hodge and Cynthia C. Morton
Uterine leiomyomata (UL), commonly referred to as fibroids, are the most frequent neoplasm of the female genital tract with such high morbidity as to account annually for one-third of hysterecto...
Preimplantation Genetic Diagnosis (PGD): Screening for Aneuploidy in Human Oocytes and Polar Bodies
J. Navarro,* C. Gutierrez-Mateo, A. Pujol, M. Durban, J.F. Sanchez-Garcia, J. Egozcue and J. Benet
Since it has been reported that in humans 90% of embryos are aneuploid as a result of malsegregation mechanisms in maternal meiosis I,1 the detection of abnormal oocytes in IVF treatments has become...
Cytogenetics of Human Sperm
Renee H. Martin
Constitutional chromosome abnormalities are seen frequently in infertile men. The consequences of these abnormalities in sperm are outlined. Infertile men with a normal chromosome karyotype also hav...
Rapid Prenatal Diagnosis of Common Chromosome Aneuploidies by Quantitative Fluorescent PCR
Vincenzo Cirigliano and Matteo Adinolfi
Prenatal diagnoses of chromosome abnormalities are performed by cytogenetic analyses of metaphase chromosomes obtained from fetal cells after several days of in vitro culture. The main disadvan...
Chromosome Abnormalities in Human Oocytes: Their Role in Reproductive Failure
Michelle Plachot
Chromosome number abnormalities are remarkably common in human reproduction, as a consequence of both whole chromosome nondisjunction and premature chromatid separation during oocyte meiosis I. ...
Prenatal Detection of Chromosome Abnormalities
Brynn Levy and Nataline Kardon
Chromosome abnormalities have been diagnosed from prenatal specimens for almost 40 years. In the United States, the current standard of care in obstetrical practice is to offer either chorionic ...
Chromosome Abnormalities in Spontaneous Abortions
Brynn Levy, Kurt Hirschhorn and Nataline Kardon
Most chromosome abnormalities lead to fetal loss, with the majority of losses occurring very early in gestation. The greater the size of the chromosomal aberration (imbalance), the earlier the f...
