Assisted reproductive technology and complex chromosomal rearrangements: the limits of ICSI

Siffroi, Jean Pierre; Benzacken, Brigitte; Straub, Bernd F.; Bourhis, Corine Le; North, Marie-Odile; Curotti, G; Bellec, V; Álvarez, Sara; Dadoune, J. P.

doi:10.1093/molehr/3.10.847

Cited by 38 publications

(20 citation statements)

References 21 publications

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“…Hitherto existing experiences with ICSI: Siffroi et al (1997) report an infertile male with a CCR involving chromosomes 7, 9 and 13 who had unsuccessful treatments of ICSI. An own observation was the case from Peschka et al (1999) which happened to be counselled when a pregnancy after ICSI (after the fourth stimulation) was achieved.…”

Section: Complex Chromosomal Aberrations (Ccr)mentioning

confidence: 99%

Somatic chromosomal abnormalities in infertile men and women

Mau-Holzmann¹

2005

Cytogenet Genome Res

130

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Infertility – the inability to achieve conception or sustain a pregnancy through to live birth – is very common and affects about 15% of couples. While chromosomal or genetic abnormalities associated with azoospermia, severe oligozoospermia or primary ovarian failure were of no importance for reproduction prior to the era of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), advances in assisted reproductive techniques (ART) now enable many infertile couples to have children. These developments have raised the question of the genetic consequences of ICSI: concerns of the potential harm of the invasive procedure and concerns about the genetic risk. The infertile male and female definitely have an increased risk to carry a chromosomal abnormality. Detection of such an abnormality is of fundamental importance for the diagnosis of infertility, the following treatment, the evaluation of the risk for the future child and the appropriate management of the pregnancy to be obtained. Therefore, cytogenetic screening of both partners is mandatory prior to any type of ART. The present review is based on several surveys on male and female infertility and analyzes the types and frequencies of the different reported chromosome abnormalities according to the type of impairment of spermatogenesis and the type of treatment planned or performed. With regard to assisted reproductive techniques (especially ICSI) the main types of chromosomal abnormalities are discussed and their potential risks for ICSI. If available, reported cases of performed ICSI and its outcome are presented. The detection of an abnormal karyotype should lead to comprehensive genetic counselling, which should include all well-known information about the individual type of anomaly, its clinical relevance, its possible inheritance, the genetic risk of unbalanced offspring, and the possibilities of prenatal diagnosis. Only this proceeding allows at-risk couples to make an informed decision regarding whether or not to proceed with ART. These decisions can be made only when both partners have clearly understood the genetic risks and possible consequences when ART is used.

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Section: Complex Chromosomal Aberrations (Ccr)mentioning

confidence: 99%

Somatic chromosomal abnormalities in infertile men and women

Mau-Holzmann¹

2005

Cytogenet Genome Res

130

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“…In such cases, the ICSI method also reaches its limits (Siffroi et al 1997), and careful genetic counseling of affected couples is required.…”

Section: Introductionmentioning

confidence: 99%

A Highly Complex Chromosomal Rearrangement between Five Chromosomes in a Healthy Female Diagnosed in Preparation for Intracytoplasmatic Sperm Injection

Kuechler

Ziegler

Blank

et al. 2005

J Histochem Cytochem.

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S U M M A R YWe report a case of a de novo complex chromosomal rearrangement among five chromosomes found in a clinically healthy woman. The only indication for chromosome analysis was a planned intracytoplasmatic sperm injection. Physical examination, including internal and external genitals, and ovaries and hormone status were normal. Banding cytogenetics showed a rearrangement among chromosomes #3, #4, #7, #9, and #17. Twenty-fourcolor fluorescence in situ hybridization and multicolor banding were applied to characterize the translocations and breakpoints more precisely. This confirmed the involved chromosomes and revealed two breakpoints in chromosome #4. This six-breakpoint rearrangement [der(3)t(3;4), der(4)t(17;4;7), der(7)t(3;7), der(9)t(4;9), and der(17)t(9;17)] seemed to be balanced on a molecular cytogenetic level, although submicroscopic deletions or duplications close to the breakpoints cannot be excluded.

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“…On considère empiriquement que la probabilité de fausse-couche spontanée pour les couples porteurs de CCR se situe entre 50 % et 100 % des conceptions, et que le risque de donner naissance à un enfant avec un phénotype pathologique lié à un déséquilibre est de 20 % à 90 % [1,7]. Des méthodes d'assistance médicale à la procréation (AMP) sont proposées aux couples concernés par des anomalies complexes du caryotype, notamment une fécondation in vitro (FIV) associée à une injection intracytoplasmique de spermatozoïde (ICSI) [35]. Cependant, cette technique n'évalue pas la qualité chromosomique du spermatozoïde sélectionné, et le risque d'une conception déséquilibrée n'est donc pas maîtrisé.…”

Section: Référencesunclassified