Chromosomal anomalies in human gametes and pre‐implantation embryos, and their potential effect on reproduction

Summary. This paper reviews the latest data on chromosomal abnormalities in human gametes and embryos. A close relationship between such anomalies and reproduction failure in humans has been postulated, thereby underscoring the importance of ongoing studies into the mechanisms leading to anomalies. Until recently, knowledge of chromosomal anomalies in human gametes and embryos has been limited. Newly developed strategies (in vitro fertilization combined with micromanipulation techniques followed by multicolour fluorescence in situ hybridization, and PCR analyses) allow precise investigation of this problem. This review of the available information on the etiology of chromosomal anomalies indicates that some of the genetic anomalies in human gametes and early embryos result in reproductive failure.

[1]  J. Harper,et al.  Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients , 1997, Human Genetics.

[2]  Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection--prevalence, types, sex distribution and reproductive relevance. , 1998 .

[3]  N. Mohandas,et al.  Structural protein 4.1 is located in mammalian centrosomes. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[4]  Peter Braude,et al.  Human gene expression first occurs between the four- and eight-cell stages of preimplantation development , 1988, Nature.

[5]  C. Strom,et al.  Preconception and preimplantation diagnosis for cystic fibrosis , 1992, Prenatal diagnosis.

[6]  E. Ko,et al.  Detection of aneuploidy in human interphase spermatozoa by fluorescence in situ hybridization (FISH). , 1993, Cytogenetics and cell genetics.

[7]  H. Weier,et al.  Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study. , 1994, American journal of human genetics.

[8]  S. Antonarakis Human chromosome 21: genome mapping and exploration, circa 1993. , 1993, Trends in genetics : TIG.

[9]  A. Rademaker,et al.  Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. , 1995, Fertility and sterility.

[10]  D. Payne,et al.  Andrology: Successful treatment of severe male factor infertility in 100 consecutive cycles using intracytoplasmic sperm injection , 1994 .

[11]  P. Devroey,et al.  Prospective follow-up study of 423 children born after intracytoplasmic sperm injection. , 1996, Human reproduction.

[12]  R. Angell,et al.  First-meiotic-division nondisjunction in human oocytes. , 1997, American journal of human genetics.

[13]  R. Martin,et al.  Detection of genetic damage in human sperm. , 1993, Reproductive toxicology.

[14]  J. Studd,et al.  Pregnancy: Age, pregnancy and miscarriage: uterine versus ovarian factors , 1993 .

[15]  D. Warburton,et al.  CYTOGENETIC ABNORMALITIES IN SPONTANEOUS ABORTIONS OF RECOGNIZED CONCEPTIONS , 1986 .

[16]  V. Bolton,et al.  The relationship between chromosomal abnormality in the human preimplantation embryo and development in vitro. , 1996, Reproduction, fertility, and development.

[17]  E. Nieschlag,et al.  Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection--prevalence, types, sex distribution and reproductive relevance. , 1998, Human reproduction.

[18]  J. G. Franco Júnior,et al.  Genetic disorders in normally androgenized infertile men and the use of intracytoplasmic sperm injection as a way of treatment. , 1997, Fertility and sterility.

[19]  B. Dworniczak,et al.  Genetic diseases of the seminal ducts. , 1998, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

[20]  J. Aitken A clue to Kartagener's , 1991, Nature.

[21]  J. Grifo,et al.  Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities. , 1995, Fertility and sterility.

[22]  Jacques Cohen,et al.  Diagnosing and preventing inherited disease: The use of first polar bodies for preimplantation diagnosis of aneuploidy , 1995 .

[23]  M. R. Martorell,et al.  An analysis of human sperm chromosome breakpoints. , 1995, American journal of human genetics.

[24]  M. Adinolfi Recurrent habitual abortion, HLA sharing and deliberate immunization with partner's cells: a controversial topic. , 1986, Human reproduction.

[25]  B. Bordson,et al.  The appropriate upper age limit for semen donors: a review of the genetic effects of paternal age. , 1991, Fertility and sterility.

[26]  R. Kumar,et al.  The chromosome complement of human uncleaved oocytes. , 1995, Journal of obstetrics and gynaecology.

[27]  A. Rademaker,et al.  The effect of age on the frequency of sperm chromosomal abnormalities in normal men. , 1987, American journal of human genetics.

[28]  A. Veiga,et al.  Are clinical and biological IVF parameters correlated with chromosomal disorders in early life: a multicentric study. , 1988, Human reproduction.

[29]  R. Angell Aneuploidy in older women. Higher rates of aneuploidy in oocytes from older women. , 1994, Human reproduction.

[30]  S. Antonarakis,et al.  Paternal nondisjunction in trisomy 21: excess of male patients. , 1993, Human molecular genetics.

[31]  V. Bolton,et al.  The relationship between chromosomal abnormalities in the human oocyte and fertilization in vitro. , 1994, Human reproduction.

[32]  C. Foresta,et al.  Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY. , 1999, Human reproduction.

[33]  T. Boat,et al.  OBSTRUCTIVE AZOOSPERMIA AS A DIAGNOSTIC CRITERION FOR THE CYSTIC FIBROSIS SYNDROME , 1982, The Lancet.

[34]  A. Rademaker,et al.  The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements. , 1990, Cytogenetics and cell genetics.

[35]  P. Jacobs The role of chromosome abnormalities in reproductive failure. , 1990, Reproduction, nutrition, development.

[36]  J. Hamerton The cytogenetics of mammalian autosomal rearrangements. , 1989 .

[37]  A. Rademaker,et al.  Detection of aneuploidy in human sperm by fluorescence in situ hybridization (FISH): different frequencies in fresh and stored sperm nuclei. , 1994, Cytogenetics and cell genetics.

[38]  E. Nieschlag,et al.  Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. , 1993, American journal of medical genetics.

[39]  A. Neuhäuser-Klaus,et al.  Induction of specific-locus and dominant-lethal mutations in male mice by diethyl sulfate (DES). , 1988, Mutation research.

[40]  L. Long-Simpson,et al.  Chromosomal analysis of unfertilized human oocytes. , 1986, Journal of reproduction and fertility.

[41]  A. Chandley Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. , 1998, Human reproduction.

[42]  J. Opitz,et al.  The neurofibromatosis-Noonan syndrome. , 1985, American journal of medical genetics.

[43]  M. Djalali,et al.  Cytogenetics of unfertilized human oocytes. , 1988, Journal of reproduction and fertility.

[44]  E. Arge Transposition of the viscera and sterility in men. , 1960, Lancet.

[45]  J. Horst,et al.  Sex chromosomal anomalies in pregnancies conceived through intracytoplasmic sperm injection: a case for genetic counselling. , 1997, Human reproduction.

[46]  C. Matthews,et al.  Simultaneous detection of X‐ and Y‐bearing human sperm by double fluorescence in situ hybridization , 1993, Molecular reproduction and development.

[47]  J. Delhanty,et al.  Cytogenetic analysis of unfertilized oocytes retrieved after treatment with the LHRH analogue, buserelin. , 1990, Human reproduction.

[48]  D. Edmonds,et al.  Early embryonic mortality in women. , 1983, Fertility and sterility.

[49]  L. Hoefsloot,et al.  Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic. , 1997, Human reproduction.

[50]  D. Payne,et al.  Successful treatment of severe male factor infertility in 100 consecutive cycles using intracytoplasmic sperm injection. , 1995, Human reproduction.

[51]  A. Rademaker,et al.  Distribution of aneuploidy in human gametes: comparison between human sperm and oocytes. , 1991, American journal of medical genetics.

[52]  M. W. Thompson,et al.  Genetic aspects of immotile cilia syndrome. , 1986, American journal of medical genetics.

[53]  Y. Kamiguchi,et al.  Chromosomally Abnormal Gametes as a Cause of Developmental and Congenital Anomalies in Humans * , 1993 .

[54]  H. Saal,et al.  Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? , 1992, Journal of medical genetics.

[55]  A. Rademaker,et al.  A comparison of the frequency and type of chromosomal abnormalities in human sperm after different sperm capacitation conditions. , 1992, Biology of reproduction.

[56]  J. Castilla,et al.  Decreased sperm function of patients with myotonic muscular dystrophy. , 2000, Human reproduction.

[57]  R. Elston,et al.  On the probability that a twin pair is monozygotic. , 1969, American journal of human genetics.

[58]  S. Lanteri,et al.  Comparison of gonosomal aneuploidy in spermatozoa of normal fertile men and those with severe male factor detected by in-situ hybridization. , 1997, Molecular human reproduction.

[59]  F. Pellestor,et al.  Assessment of aneuploidy in the human female by using cytogenetics of IVF failures. , 1988, American journal of human genetics.

[60]  L. Clark Letter: Blood substitutes. , 1974, Lancet.

[61]  F. Ledley,et al.  Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts. , 1993, American journal of human genetics.

[62]  M. Montag,et al.  Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. , 1997, Human reproduction.

[63]  C. Strom,et al.  Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis. , 1998, American journal of obstetrics and gynecology.

[64]  V. Bolton,et al.  Immaturity and chromosomal abnormalities in oocytes that fail to develop pronuclei following insemination in vitro. , 1993, Human reproduction.

[65]  J. Conboy Structure, function, and molecular genetics of erythroid membrane skeletal protein 4.1 in normal and abnormal red blood cells. , 1993, Seminars in hematology.

[66]  R. K. Knight,et al.  Obstructive azoospermia: respiratory function tests, electron microscopy and the results of surgery. , 1978, British journal of urology.

[67]  N. Klein,et al.  Influence of maternal age on meiotic spindle assembly in oocytes from naturally cycling women. , 1996, Human reproduction.

[68]  J. Aitken Reproductive biology. A clue to Kartagener's. , 1991, Nature.

[69]  H. Burger,et al.  Young's syndrome (obstructive azoospermia and chronic sinobronchial infection): a quantitative study of axonemal ultrastructure and function. , 1991, Fertility and sterility.

[70]  J. Friedman Genetic disease in the offspring of older fathers. , 1981, Obstetrics and gynecology.

[71]  J. Horst,et al.  Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation. , 1997, Human reproduction.

[72]  Y. Kamiguchi,et al.  The interspecific in vitro fertilization system to measure human sperm chromosomal damage. , 1991, Progress in clinical and biological research.

[73]  P. Devroey,et al.  Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte , 1992, The Lancet.

[74]  P. Pearson,et al.  Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa. , 1997, Human reproduction.

[75]  J. Opitz,et al.  Noonan phenotype associated with neurofibromatosis. , 1985, American journal of medical genetics.

[76]  M. Zack,et al.  Paternal age and the occurrence of birth defects. , 1986, American journal of human genetics.

[77]  K. Marks,et al.  Cytogenetic and fluorescent in-situ hybridization chromosomal studies on in-vitro fertilized and intracytoplasmic sperm injected 'failed-fertilized' human oocytes. , 1996, Human reproduction.

[78]  David Handelsman,et al.  Young's syndrome. Obstructive azoospermia and chronic sinopulmonary infections. , 1984, The New England journal of medicine.

[79]  J. Grifo,et al.  The use of first polar bodies for preimplantation diagnosis of aneuploidy. , 1995, Human reproduction.

[80]  L. Pauling Ascorbic acid and the common cold. , 1971, The American journal of clinical nutrition.

[81]  S. Gardó,et al.  Cytogenetic analysis of spontaneous abortions with direct analysis of chorionic villi. , 1992, European journal of obstetrics, gynecology, and reproductive biology.

[82]  F. Pellestor,et al.  Direct assessment of the rate of chromosomal abnormalities in grade IV human embryos produced by in-vitro fertilization procedure. , 1994, Human reproduction.

[83]  A. De Paepe,et al.  Triple colour fluorescent in-situ hybridization for chromosomes X,Y and 1 on spare human embryos. , 1997, Human reproduction.

[84]  H. Walt,et al.  Abnormal chromosomal arrangements in human oocytes. , 1990, Human reproduction.

[85]  B. Afzelius A human syndrome caused by immotile cilia. , 1976, Science.

[86]  J. Watt,et al.  Trisomy 1 in an eight cell human pre-embryo. , 1987, Journal of Medical Genetics.

[87]  H U Weier,et al.  Chromosome mosaicism in human embryos. , 1994, Biology of reproduction.

[88]  C. Flamigni,et al.  Pregnancies in postmenopausal women over 50 years old in an oocyte donation program. , 1995, Fertility and sterility.

[89]  G. Wright,et al.  Practical evolution and application of direct intracytoplasmic sperm injection for male factor and idiopathic fertilization failure infertilities. , 1995, Fertility and sterility.

[90]  F. Pellestor Differential distribution of aneuploidy in human gametes according to their sex. , 1991, Human reproduction.

[91]  Y. Rumpler,et al.  Chromosomal anomalies and disturbance of transcriptional activity at the pachytene stage of meiosis: relationship to male sterility. , 1993, Cytogenetics and cell genetics.

[92]  R. Lobo,et al.  Pregnancy after age 50: application of oocyte donation to women after natural menopause , 1993, The Lancet.

[93]  N E Morton,et al.  The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination. , 1994, Human molecular genetics.

[94]  A. V. D. van den Ouweland,et al.  Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection. , 1997, Human reproduction.

[95]  A. Rademaker,et al.  The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH. , 1995, American journal of human genetics.

[96]  I. Hansmann,et al.  Detection of nondisjunction in mammals. , 1979, Environmental health perspectives.

[97]  Friedman Jm Genetic disease in the offspring of older fathers. , 1981 .

[98]  D. Moore,et al.  An analysis of structural aberrations in human sperm chromosomes. , 1988, Cytogenetics and cell genetics.

[99]  A. Robinson,et al.  The parental origin of the extra X chromosome in 47,XXX females. , 1990, American journal of human genetics.

[100]  J. Parsons,et al.  Carpometacarpal osteoarthritis of the thumb. , 1970, Lancet.

[101]  H. Shwachman,et al.  Reproductive failure in males with cystic fibrosis. , 1968, The New England journal of medicine.

[102]  E. Benz,et al.  Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. , 1992, The Journal of clinical investigation.

[103]  J. Skolnick,et al.  Young's syndrome: an often unrecognized correctable cause of obstructive azoospermia. , 1987, The Journal of urology.

[104]  G. Sega Molecular dosimetry of chemical mutagens. Measurement of molecular dose and DNA repair in mammalian germ cells. , 1976, Mutation research.

[105]  F. Pellestor,et al.  Relationship between morphology and chromosomal constitution in human preimplantation embryo , 1994, Molecular reproduction and development.

[106]  Y. Matsuda,et al.  Repair capacity of fertilized mouse eggs for X-ray damage induced in sperm and mature oocytes. , 1989, Mutation research.

[107]  F Vogel,et al.  Spontaneous mutation in man. , 1975, Advances in human genetics.

[108]  A. Munnich,et al.  Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. , 1996, American journal of medical genetics.

[109]  Y. Matsuda,et al.  Chromosomal analysis in mouse eggs fertilized in vitro with sperm exposed to ultraviolet light (UV) and methyl and ethyl methanesulfonate (MMS and EMS). , 1988, Mutation research.

[110]  W. Lissens,et al.  The genetics of male infertility in relation to cystic fibrosis. , 1997, Bailliere's clinical obstetrics and gynaecology.

[111]  P. Working,et al.  An assay to detect chemically induced DNA repair in rat spermatocytes. , 1984, Environmental mutagenesis.

[112]  D. Pinkel,et al.  Detection of aneuploid human sperm by fluorescence in situ hybridization: evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y. , 1993, American journal of human genetics.

[113]  P. Jacobs,et al.  Trisomy in man. , 1984, Annual review of genetics.

[114]  J. Miller,et al.  Nondisjunction in aging female mice. , 1976, Cytogenetics and cell genetics.

[115]  P. Braude,et al.  Gene activity and cleavage arrest in human pre-embryos. , 1992, Human reproduction.

[116]  A. Lim,et al.  Chromosomes of oocytes failing in-vitro fertilization. , 1995, Human reproduction.

[117]  J. Connor,et al.  The chromosome constitution of human preimplantation embryos fertilized in vitro. , 1994, Human reproduction.

[118]  P. Jacobs,et al.  A cytogenetic study of 1000 spontaneous abortions , 1980, Annals of human genetics.

[119]  E. Mendoza,et al.  Fertility in a man with cystic fibrosis. , 1976, JAMA.

[120]  A. Matsunobu,et al.  A Cytogenetic Study of Spontaneous Abortions With Direct Analysis of Chorionic Villi , 1991, Obstetrics and gynecology.

[121]  Cohen Fl Paternal contributions to birth defects. , 1986 .

[122]  M. Braekeleer,et al.  Cytogenetic studies in male infertility: a review. , 1991, Human reproduction.

[123]  J. Rigot,et al.  Abnormal expression of protein 4.1 in spermatozoa of infertile men with teratospermia , 1994, The Lancet.

[124]  P. Jacobs,et al.  Molecular studies of trisomy 18. , 1993, American journal of human genetics.

[125]  T. Zwingman,et al.  Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes. , 1993, Human molecular genetics.

[126]  A. Neuhäuser-Klaus,et al.  Induction of specific-locus and dominant-lethal mutations by cyclophosphamide and combined cyclophosphamide-radiation treatment in male mice. , 1988, Mutation research.