Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) offers polymerase chain reaction tests for an increasing range of single gene defects, and fluorescence in situ hybridization tests for sex determination (for X‐linked conditions) and for aneuploidy detection. Patients carrying chromosome translocations with a high reproductive risk are increasingly seeking to increase their chances of a normal pregnancy with the help of PGD, for which they present a special challenge. This paper describes the behaviour of reciprocal translocations at meiosis, discusses current methods of detecting meiotic outcomes at the preimplantation stage and outlines ways forward for preimplantation diagnosis of these common rearrangements. We also propose a more general strategy using recently developed chromosome‐specific sub‐telomeric probes, combined, if possible, with proximal probes, to form a strong diagnostic tool. Copyright © 1998 John Wiley & Sons, Ltd.

[1]  H. Landy,et al.  The vanishing twin: a review. , 1998, Human reproduction update.

[2]  K. Cieply,et al.  Segregation analysis of four translocations, t(2;18), t(3;15), t(5;7), and t(10;12), by sperm chromosome studies and a review of the literature. , 1995, Cytogenetics and cell genetics.

[3]  D. Pinkel,et al.  Comparative Genomic Hybridization for Molecular Cytogenetic Analysis of Solid Tumors , 2022 .

[4]  D. Ledbetter,et al.  A complete set of human telomeric probes and their clinical application , 1996, Nature Genetics.

[5]  J. Stene,et al.  Experiences with risk estimates for carriers of chromosomal reciprocal translocations , 1992, Clinical genetics.

[6]  P. Devroey,et al.  Birth after preimplantation diagnosis of the cystic fibrosis delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. , 1994, JAMA.

[7]  C. Strom,et al.  Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group. , 1996, Fertility and sterility.

[8]  J. Delhanty,et al.  Preimplantation genetic diagnosis: strategies and surprises. , 1997, Trends in genetics : TIG.

[9]  H. Weier,et al.  Carrier-specific breakpoint-spanning DNA probes: an approach to preimplantation genetic diagnosis in interphase cells. , 1997, Human reproduction.

[10]  L. Ashworth,et al.  Cytogenetics of human sperm: meiotic segregation in two translocation carriers. , 1986, American journal of human genetics.

[11]  Charles M. Strom,et al.  Assisted reproductive technologyBirth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis , 1996 .

[12]  J. Fenwick,et al.  Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day-old human blastocysts , 1997, Human Genetics.

[13]  J. Harper,et al.  Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism , 1999, Journal of medical genetics.

[14]  H. Weier,et al.  Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis , 1998, Human Genetics.

[15]  H. Weier,et al.  Simultaneous enumeration of chromosomes 13, 18, 21, X, and Y in interphase cells for preimplantation genetic diagnosis of aneuploidy. , 1996, Cytogenetics and cell genetics.

[16]  A. Wyrobek,et al.  Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. , 1997, American journal of human genetics.

[17]  L. Fitzgerald,et al.  Preimplantation genetic diagnosis of chromosome balance in embryos from a patient with a balanced reciprocal translocation. , 1998, Molecular human reproduction.

[18]  K. Sermon,et al.  Preimplantation genetic diagnosis: current status and new developments. , 1997, Human reproduction.

[19]  A. H. Handyside,et al.  Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification , 1990, Nature.

[20]  A. Handyside.  Biopsy of Human Cleavage Stage Embryos and Sexing by DNA Amplification , 1991 .

[21]  G. Neri,et al.  Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families , 1983 .