Acral and Renal Malformations Following Icsi

Schuffner, Alessandro; Centa, Lidio; Reggiani, Celeste P. Demeterco; Costa, Sérgio Ely Valadão Gigante de Andrade

doi:10.1080/01485010500379863

Cited by 3 publications

(2 citation statements)

References 17 publications

(16 reference statements)

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“…For example, Y chromosome microdeletions present in the father will be inherited by the male offspring 156 . Not surprisingly, paternally transmitted genetic defects have been observed in offspring conceived by ICSI (Y chromosome microdeletions 135 , Robertsonian translocation 157 , translocations 158 , inversion 159 , ring chromosome 160 , renal agenesis and malformations 161 , diandric triploidy resulting from fertilization with diploid sperm (69XXY) 162 , autosomal trisomies (trisomy 13 (ref. 163), trisomy 15 (ref.…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

The biology of infertility: research advances and clinical challenges

Matzuk

Lamb

2008

Nat Med

828

675

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Reproduction is required for the survival of all mammalian species, and thousands of essential ‘sex’ genes are conserved through evolution. Basic research helps to define these genes and the mechanisms responsible for the development, function and regulation of the male and female reproductive systems. However, many infertile couples continue to be labeled with the diagnosis of idiopathic infertility or given descriptive diagnoses that do not provide a cause for their defect. For other individuals with a known etiology, effective cures are lacking, although their infertility is often bypassed with assisted reproductive technologies (ART), some accompanied by safety or ethical concerns. Certainly, progress in the field of reproduction has been realized in the twenty-first century with advances in the understanding of the regulation of fertility, with the production of over 400 mutant mouse models with a reproductive phenotype and with the promise of regenerative gonadal stem cells. Indeed, the past six years have witnessed a virtual explosion in the identification of gene mutations or polymorphisms that cause or are linked to human infertility. Translation of these findings to the clinic remains slow, however, as do new methods to diagnose and treat infertile couples. Additionally, new approaches to contraception remain elusive. Nevertheless, the basic and clinical advances in the understanding of the molecular controls of reproduction are impressive and will ultimately improve patient care.

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Section: Diagnosis and Treatmentmentioning

confidence: 99%

The biology of infertility: research advances and clinical challenges

Matzuk

Lamb

2008

Nat Med

828

675

View full text Add to dashboard Cite

show abstract

“…Intracytoplasmic sperm injection involves the selection of a single sperm cell and the manual injection of the cell into the egg, thus, it is interesting to compare birth defects risk between IVF and ICSI (2,(19)(20)(21)(22)(23)(24)(41)(42)(43)(44)(45)(46)(47)(48)(49)(50)(51)(52)(53)(54)(55)(56)(57). Actually, case reports reported severe defects in children conceived by ICSI (58)(59)(60). To systematically evaluate published evidence on the association between birth defects and ART and compare the risk difference between IVF and ICSI, we conducted an extensive literature search and metaanalysis.…”

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confidence: 99%