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At least 217 records · Page 12Linked to original sources
PubMed1996

Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group.

OBJECTIVE: To perform preimplantation diagnosis of common aneuploidies by polar body analysis and fluorescent in situ hybridization technique using probes specific for chromosomes X, 18, and 13/21. DESIGN: The first and/or second polar bodies were removed and studied by fluorescent in situ hybridization to detect and avoid fertilization and transfer of oocytes with common aneuploidies. SETTING: The Reproductive Genetics Institute's IVF program at Illinois Masonic Medical Center. PATIENTS: One hundred ninety-three couples of advanced maternal age (34 to 46 years) under-going IVF treatment volunteered to be part of a clinical trial on preimplantation polar body diagnosis of common aneuploidies. INTERVENTIONS: Using micromanipulation procedures, the first and second polar bodies were removed after their extrusion from the oocytes. MAIN OUTCOME MEASURE: Fluorescent in situ hybridization signals specific for chromosomes X, 18, and 13/21. RESULTS: In 235 IVF cycles performed in 193 couples, 1,293 oocytes were biopsied and subjected to fluorescent in situ hybridization analysis, with fluorescent in situ hybridization results available in 993 oocytes (76.8%). Of 993 oocytes with fluorescent in situ hybridization results, 665 (67%) were predicted to be normal based on the chromosomes studied; 460 embryos resulting from these oocytes were transferred in 187 treatment cycles, resulting in 12 births of healthy children and 18 ongoing pregnancies after confirmation of the polar body diagnosis by chorionic villus sampling or amniocentesis. CONCLUSION: Polar body fluorescent in situ hybridization analysis may be used for preimplantation diagnosis of common aneuploidies in IVF patients of advanced maternal age.

Adult↗
PubMed1999

In vitro fertilization plus preimplantation genetic diagnosis in patients with recurrent miscarriage: an analysis of chromosome abnormalities in human preimplantation embryos.

OBJECTIVE: To analyze the incidence of numeric chromosomal abnormalities in preimplantation embryos from women with unexplained recurrent miscarriage (RM) so as to seek an etiology and to determine whether the use of IVF may be indicated to treat these cases. DESIGN: Prospective controlled study. SETTING: University laboratory of reproductive genetics and a tertiary referral center for infertility. PATIENT(S): Nine women with a mean (+/-SD) of 3.9 +/- 0.6 RMs who were undergoing IVF and preimplantation genetic diagnosis, and a control group of young (n = 10) and older (n = 6) patients who were undergoing preimplantation genetic diagnosis because of sex-linked diseases. INTERVENTION(S): In vitro fertilization, embryo culture for 72 hours, blastomere biopsy, and analysis of chromosomes 13, 16, 18, 21, 22, X, and Y with the use of fluorescent in situ hybridization. Transfer of chromosomally normal embryos into the uterus. MAIN OUTCOME MEASURE(S): Numeric chromosomal abnormalities in human embryos. RESULT(S): Sixty-six embryos from patients with RM were compared with 62 embryos from young patients and 41 embryos from older patients. There was a significant increase in the rate of abnormal embryos in the patients with RM and the older patients compared with the controls. Abnormalities in most of the chromosomes studied were higher in the RM group than in the control group, especially those affecting chromosome 13. CONCLUSION(S): There was an increase in numeric chromosomal abnormalities in preimplantation embryos from women with RM that could be the cause of infertility in many couples with unexplained RM. The use of IVF in such circumstances may be indicated if successful preimplantation genetic diagnosis is added to the procedure.

Abortion, Habitual↗
PubMed2001

Reproductive and developmental risks from ethylene oxide: a probabilistic characterization of possible regulatory thresholds.

Ethylene oxide is a gas produced in large quantities in the United States that is used primarily as a chemical intermediate in the production of ethylene glycol, propylene glycol, non-ionic surfactants, ethanolamines, glycol ethers, and other chemicals. It has been well established that ethylene oxide can induce cancer, genetic, reproductive and developmental, and acute health effects in animals. The U.S. Environmental Protection Agency is currently developing both a cancer potency factor and a reference concentration (RfC) for ethylene oxide. This study used the rich database on the reproductive and developmental effects of ethylene oxide to develop a probabilistic characterization of possible regulatory thresholds for ethylene oxide. This analysis was based on the standard regulatory approach for noncancer risk assessment, but involved several innovative elements, such as: (1) the use of advanced statistical methods to account for correlations in developmental outcomes among littermates and allow for simultaneous control of covariates (such as litter size); (2) the application of a probabilistic approach for characterizing the uncertainty in extrapolating the animal results to humans; and (3) the use of a quantitative approach to account for the variation in heterogeneity among the human population. This article presents several classes of results, including: (1) probabilistic characterizations of ED10s for two quantal reproductive outcomes-resorption and fetal death, (2) probabilistic characterizations of one developmental outcome-the dose expected to yield a 5% reduction in fetal (or pup) weight, (3) estimates of the RfCs that would result from using these values in the standard regulatory approach for noncancer risk assessment, and (4) a probabilistic characterization of the level of ethylene oxide exposure that would be expected to yield a 1/1,000 increase in the risk of reproductive or developmental outcomes in exposed human populations.

Animals↗
PubMed1982

Reproduction in Down syndrome.

A new case of pregnancy in a 29-year-old woman with trisomy 21 is described. She gave birth to a male infant, chromosomally and phenotypically normal, who died the day after delivery due to prematurity. Thirty pregnancies of 26 affected mothers, including the present woman, resulted in 10 children with Down syndrome, 18 children (1 set of twins) without Down syndrome, and 3 spontaneous abortions. Although rare, pregnancies in women with Down syndrome could become more frequent, increasing the importance of genetic, reproductive, and obstetric problems. These problems are reviewed with special reference to the occurrence of nonspecific abnormalities in chromosomally normal children, difficulties in labor and delivery, and frequency of prematurity and low birth weight.

Adult↗
PubMed2001

Reproductive compensation and human genetic disease.

The effects of reproductive compensation on the population genetics of sex-linked recessive lethal mutations are investigated. Simple equations are presented which describe these effects, and so complement existing population genetic theory. More importantly, this type of mutation is responsible for several severe human genetic diseases such as Duchenne muscular dystrophy. It is argued that the applications of three modern reproductive technologies--effective family planning, in utero diagnosis with termination, and embryo sexing--will lead to reproductive compensation. The adoption of any of these technologies may rapidly elevate the frequencies of those mutations which are lethal in childhood. This increase is large, in the order of 33% upwards, and occurs rapidly over two to five generations. It also depends on the source of mutations, the effect being larger if most mutations are paternal. In utero diagnosis and/or embryo sexing increase the frequency of the mutation, but simultaneously decrease disease incidence by preventing the birth of affected offspring. In contrast, effective family planning may rapidly increase both mutation frequency and disease incidence.

Family Planning Services↗
PubMed2001

Preimplantation testing for phenylketonuria.

OBJECTIVE: To use preimplantation genetic diagnosis to achieve a phenylketonuria-free pregnancy in a couple at 50% risk for producing an affected child. DESIGN: DNA analysis of the first and second polar bodies (PB1 and PB2) obtained from oocytes of a heterozygous mother in IVF-ET, with the goal of identifying and transferring back to the patient the embryos resulting from mutation-free oocytes. SETTING: IVF program of Reproductive Genetics Institute, Chicago, Illinois. PATIENT(S): A mother carrying the R408W mutation and a father with compound heterozygosity for R408 and Y414C mutations in phenylalanine hydroxylase (PAH) gene. INTERVENTION(S): Removal and testing for maternal mutation in PB1 and PB2 from each oocyte after standard IVF. MAIN OUTCOME MEASURE(S): DNA analysis of PB1 and PB2 indicating whether corresponding oocytes were mutation-free, for the purposes of transferring only unaffected embryos resulting from these oocytes. RESULT(S): Of 11 zygotes with both PB1 and PB2, 6 were predicted to be free of phenylketonuria. Of these, 4 were transferred, resulting in an unaffected twin pregnancy and birth of two healthy children. CONCLUSION(S): Preimplantation genetic diagnosis of phenylketonuria resulted in the birth of phenylketonuria-free children. Preimplantation genetic diagnosis by PB analysis in couples with a compound heterozygous male partner is clinically useful.

Adult↗
PubMed2003

Preimplantation genetic diagnosis for the Kell genotype.

OBJECTIVE: To use preimplantation genetic diagnosis (PGD) to achieve a Kell 1 (K1) allele-free pregnancy in couples at risk for producing a child with hemolytic disease of the newborn (HDN) caused by maternofetal incompatibility in sensitized mothers. DESIGN: DNA analysis of biopsied blastomeres from cleavage-stage embryos in IVF-ET with the goal of identifying and transferring back to patients the K1 allele-free embryos. SETTING: IVF program at the Reproductive Genetics Institute, Chicago, Illinois, and IVF Michigan, Rochester Hills, Michigan. PATIENT(S): Two at-risk couples with a history of neonatal death caused by HDN due to K1/K2 genotype in a male partner. INTERVENTION(S): Biopsy of single blastomeres and testing for paternal K1 allele in each embryo after standard IVF. MAIN OUTCOME MEASURE(S): DNA analysis of blastomeres indicating whether corresponding embryos were K1 allele-free for the purpose of transferring only embryos without the K1 allele. RESULT(S): Of 36 embryos tested in five cycles from two couples, 18 were predicted to be K1 allele-free. Of these, 9 were transferred, resulting in a K1 allele-free twin pregnancy and the birth of two healthy children. CONCLUSION(S): PGD of the K1 genotype resulted in the birth of healthy twins confirmed to be free of the K1 allele. PGD in couples with a heterozygous K1/K2 male partner provides an option for avoiding HDN in sensitized mothers.

Adult↗
PubMed2026

Forty years in the field: reproductive biotechnologies shaping genetic progress in cattle in France.

Over the past four decades, reproductive biotechnologies have profoundly transformed cattle breeding by accelerating genetic progress and enabling the dissemination of elite genetics. In this article, I present a perspective based on more than 40 years of practical experience in embryo technologies within Auriva-Elevage, a cooperative organization serving 30,000 farmers in southern France. The development of embryo transfer in France was closely linked to genetic and sanitary challenges, particularly the introduction of North American Holstein genetics and the restrictions on live animal imports due to infectious diseases such as Infectious Bovine Rhinotracheitis. These constraints stimulated the development of national expertise in embryo transfer. Over the years, our team has implemented and adapted a wide range of reproductive technologies including in vivo embryo production and embryo transfer, cryopreservation, embryo sexing, ovum pick-up (OPU), in vitro embryo production (IVP), embryo biopsy, genomic evaluation of embryos, and laser-assisted biopsy techniques. The genomic revolution dramatically increased the strategic value of OPU-IVP for the rapid multiplication of elite donor females. In addition to technological developments, the success of these programs has depended heavily on internal training, collaboration with national organizations such as ELIANCE (previously UNCEIA, ALLICE) and research institutes including INRAE and Toulouse veterinary school, as well as strong international exchanges through scientific networks. Practical examples such as the use of embryo biopsy to prevent genetic diseases demonstrate the applied value of these technologies in breeding programs. This review highlights the technical evolution, organizational structures, and human expertise that have shaped the implementation of reproductive biotechnologies in cattle breeding and discusses the importance of anticipating future needs to ensure continued genetic progress.

OPU-IVP↗
PubMed2005

Semen and reproductive profiles of genetically identical cloned bulls.

In this comparative study, reproductive parameters and semen characteristics of cloned bulls (n = 3) derived from somatic cell nuclear transfer (SCNT) were compared to their original cell donor Holstein-Friesian (n = 2) bulls from the same enterprise to assess the differences in reproductive potential between a donor bull and its clones. The parameters evaluated included motility of fresh, frozen-thawed and Percoll-treated frozen-thawed spermatozoa, as well as in vitro fertilization (IVF) ability, embryo quality, birth and survival of calves following IVF and embryo transfer with frozen-thawed semen. With fresh semen, spermatozoa from one cloned bull had lower motility than its donor. Cloned bulls had higher velocity parameters in fresh semen, but those effects were not obvious in frozen-thawed or frozen-thawed semen selected with a Percoll gradient. Semen collected from cloned bulls had significantly higher IVF rates compared to donors; however, embryo development per cleaved embryo or quality of blastocysts did not differ between donors and cloned bulls. Pregnancy and live offspring rates from one donor and its cloned bull did not differ between fresh (40%, 16/40 versus 46%, 17/37) and vitrified/thawed (13%, 2/16 versus 25%, 4/16) embryo transfer following IVF. A total of 26 calves were obtained from genotypically identical donor and cloned bulls with no signs of phenotypical abnormalities. These preliminary results suggested that the physiology of surviving postpubertal cloned bulls and quality of collected semen had equivalent reproductive potential to their original cell donor, with no evidence of any deleterious effects in their progeny.

Animals↗
PubMed1987

Reproductive plans of genetic counseling clients not eligible for prenatal diagnosis.

A prospective study of the reproductive plans of 185 genetic counseling clients at risk for birth defects not diagnosable prenatally found, 6 months after counseling, 1) a small increase in the number of pregnancies initiated and planned, compared to pregnancies planned before counseling; 2) an increase in initiated and planned pregnancies among clients at both high as well as low risk; and 3) reproductive plans after counseling more closely correlated with clients' perceptions of the social, familial, and economic burdens of an affected child than with medically defined risk and specific clinical characteristics of the birth defects. In discussing the burden of a birth defect with clients, counselors are encouraged to discuss not only the medical burden, but the social, familial, and financial burdens as well.

Attitude↗
PubMed2005

Genetic analysis of reproduction in the Buryat populations.

A complex anthropological survey based on population-genetic methods and a study of a wide spectrum of genetic systems (43 alleles from 17 independent loci) was undertaken among 450 Buryat women of post-reproductive age. The results obtained showed the influence of particular genetic markers and their complex on the formation of peculiarities in the reproduction structure of the Buryat population.A sharp increase in phenotype GC 2-2 frequency and the corresponding GC*2 allele of the group-specific component (GC) was established for women groups with burdened obstetric records. These groups are characterized also by a considerable decrease in the observed geterozygosity (Ho) as compared to its expected value (He). Samples including women with multiple pregnancies in the recorded obstetric anamnesis are characterized by a significant increase in the frequency of the rare alleles TF*C3 of the transferrin system and those of PI*Z belonging to the proteinase inhibitor system (a1-antitrypsin) as compared to the control group. The results obtained widened current knowledge about the influence of genetic and environmental components on reproduction processes in human populations.

Aminoisobutyric Acids↗
PubMedDate not supplied

Molecular cloning of rat and mouse membrane cofactor protein (MCP, CD46): preferential expression in testis and close linkage between the mouse Mcp and Cr2 genes on distal chromosome 1.

Human membrane cofactor protein (MCP, CD46) is widely distributed and is one of the plasma membrane complement inhibitors. We isolated cDNA clones encoding genetic homologues of human MCP from a rat testis cDNA library. Northern blot analysis indicated that rat MCP is preferentially expressed in testis, similar to what is found with guinea pig MCP. We identified several different cDNAs, which were presumably generated by alternative splicing from a single-copy gene. The most prevalent isoform corresponded to the Ser/Thr/Pro-rich C type of human MCP. Mouse MCP cDNA was cloned by polymerase chain reaction based on the nucleotide sequence of rat MCP. The deduced amino acid sequence showed 77.8% identity to rat MCP. Mouse MCP was also preferentially expressed in testis. Unique expression in testis in rat and mouse as well as guinea pig suggests that MCPs in these species not only act as complement regulatory proteins but may also have more specialized functions in fertilization or reproduction. Genetic mapping by linkage analysis indicated that the mouse Mcp gene is located on distal chromosome 1, closely linked to the complement receptor 2 (Cr2) gene.

Amino Acid Sequence↗
PubMed1991

Genetics of growth and reproduction in the turkey. 11. Evidence of nonadditive genetic variation.

A commercial sire line (C) and an experimental population selected solely for increased 16-wk BW (F) were reciprocally crossed to produce crossbred F1 and F2 progeny. The F1 and F2 crosses were used to evaluate the presence of nonadditive genetic variance for growth and reproductive traits. The crosses demonstrated improved growth performance as indicated by heterosis for 16- and 20-wk BW. The difference in BW was, however, reversed at maturity as indicated by negative heterosis for BW at maturity. The F1 and F2 crosses also exhibited heterosis for walking ability. Heterosis for reproductive traits was greater than for growth. The F1 crosses produced approximately 20 eggs more in a 180-day production season than the parental populations. This difference was halved in F2 generation hens. Improved egg production was achieved both through an increase in the rate of egg production and through a reduction in broodiness. The present experiment indicates that there is potential for significant heterosis for growth and reproduction in some crosses in the domestic turkey. The results also indicate that heterosis can be considerable, even in crosses of lines which do not differ greatly in BW or reproductive performance.

Animals↗
PubMed2007

Genetic parameters for reproduction and production traits of Landrace sows in Thailand.

Data from Thai Landrace sows were used to estimate genetic parameters for reproduction and production traits in first and later parities. The reproduction traits investigated were total number of piglets born per litter (TB), number of stillborn piglets (SB), and number of piglets born alive but dead within 24 h (BAD). The reproduction data pertained to 12,603 litters born between 1993 and 2005. The production measures were ADG and backfat thickness (BF); these were recorded in 4,163 boars and 15,171 gilts. Analyses were carried out with a multivariate animal model using average information REML procedures. Heritability estimates of reproduction traits for first parity were 0.03 +/- 0.02 for TB, 0.04 +/- 0.02 for SB, and 0.06 +/- 0.02 for BAD. For later parities, they were 0.07 +/- 0.01 for TB, 0.03 +/- 0.04 for SB, and 0.02 +/- 0.01 for BAD. Heritability estimates for production traits were 0.38 +/- 0.02 for ADG and 0.61 +/- 0.02 for BF. Genetic correlations between ADG and TB tended to be favorable, and genetic correlations between BF and TB tended to be unfavorable in all parities. However, BF was genetically correlated unfavorably with SB in later parities, and the genetic correlations between TB and BAD tended to be unfavorable in all parities. The genetic correlations of TB, SB, and BAD between first and later parities were 0.85 +/- 0.13, 0.79 +/- 0.16, and 0.71 +/- 0.24, respectively. Selection for high growth rate will probably increase TB, and selection for low BF will decrease TB and increase SB. The results obtained also indicated that BAD will increase if there is selection pressure for high TB.

Animals↗
PubMed1995

Aneuploidy in late-step spermatids of mice detected by two-chromosome fluorescence in situ hybridization.

A multicolor procedure employing fluorescence in situ hybridization is described for detecting chromosomal domains and germinal aneuploidy in late-step spermatids in mice using DNA probes specific for repetitive sequences near the centromeres of chromosomes 8 and X. These probes were nick-translated with biotin- or digoxigenin-labeled nucleotides, and were detected with FITC or rhodamine. Probe and hybridization specificities were confirmed using metaphase chromosomes from spleen and bone marrow cells as well as from primary and secondary spermatocytes. Late-step spermatids, identified in testicular preparations by their hooked shape, yielded compact fluorescence domains in approximately 50% and > 99% of cells when hybridized with probes for chromosomes X and 8, respectively. In a survey of > 80,000 late-step spermatids from 8 healthy young adult C57BL/6 or B6C3F1 mice, approximately 3/10,000 spermatids had fluorescence phenotypes indicative of X-X or 8-8 hyperhaploidy. These frequencies are consistent with published frequencies of aneuploidy in meiotic metaphase II and first cleavage metaphases of the mouse, providing preliminary validation of sperm hybridization for the detection of aneuploidy. No significant animal or strain differences were observed. In addition, the hyperhaploidy frequencies for murine spermatids were indistinguishable for those for sperm from healthy men obtained by a similar hybridization procedure. These procedures for detecting aneuploid male gametes are examples of "bridging biomarkers" between human and animal studies. They have promising applications for investigations of the genetic, reproductive, and toxicological factors leading to abnormal reproductive outcomes of paternal origin.

Aneuploidy↗
PubMed1998

Priorities in the development of alternative methodologies in the pharmaceutical industry.

Promotion of animal welfare is an underlying and laudable goal for toxicologists and there is good reason to adopt practical, focused, investigative approaches towards this aim. Pharmaceutical regulatory toxicology can be subdivided into the areas of systemic (target organ), reproductive, genetic and topical toxicology, as well as immunotoxicology and oncology. These areas can be assessed for prioritisation as to where adoption of measures to promote any or all of the 3 Rs (reduction, replacement, refinement) would lead to the most tangible benefit for animals. These measures can range, for example, from replacement of animal experimentation with alternative in vitro techniques, to adoption of regulatory protocols that reduce the number of animals required. This paper is confined to consideration of in vitro technology in terms of reducing/replacing laboratory animal use, and a suggested list of criteria for prioritisation is potential for:- Regulatory acceptability Reducing development cost Reducing animal numbers Promoting welfare aspects Elucidating toxic mechanisms Usefulness in compound selection Advancing the science of toxicology Clear messages emerge from such an analysis which could influence prioritisation of the application of in vitro toxicology from the standpoints of animal welfare, feasibility and resources.

Animal Testing Alternatives↗