Chapter category: Tissue Engineering
Chromosome Abnormalities in Spontaneous Abortions
Cytogenetics in Reproductive Medicine
Edited by: Dagan WellsISBN: 1-58706-205-4
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Chapter authors:
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 fetus is expected to miscarry. There are only a few aneuploidies that survive to term. The most notable of these include Patau (Trisomy 13), Edward (Trisomy 18), Down syndrome (Trisomy 21) and the sex chromosome abnormalities (X0, XXX, XXY and XYY). The other chromosome abnormalities compatible with survival tend to comprise smaller imbalances (partial aneuploidy) whereby the global effect on the development of the fetus is not devastating enough to cause a miscarriage. Most of these cases with partial trisomy do however present with some type of clinical phenotype. Chromosome abnormalities account for approximately 65-70% of first trimester miscarriages with aneuploidy, particularly trisomy, accounting for the majority of the cases. Maternal age plays an important and consistent role in determining abnormality distribution. Advanced maternal age is associated with an increased likelihood of aneuploidy and multiple aneuploidy.
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...
