Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss

Ranjith Ramasamy, Jason M. Scovell, Jason R. Kovac, Peter J. Cook, Dolores J. Lamb, Larry I. Lipshultz

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Objective: To investigate, in men presenting with recurrent pregnancy loss (RPL), the prevalence of sperm autosome and sex chromosome aneuploidy. Design: Retrospective study. Setting: Male infertility clinic. Patient(s): A total of 140 men with RPL provided semen samples, and five normozoospermic controls provided 140 semen samples for comparison. Recurrent pregnancy loss, documented in the female partners, was defined as a prior miscarriage and/or recurrent IVF/intracytoplasmic sperm injection failure. Intervention(s): Fluorescence in situ hybridization (FISH) was used to detect numerical abnormalities in sex chromosomes (X, Y) and autosomes (13, 18, 21) in ejaculated sperm. Main Outcome Measure(s): Sperm aneuploidy in men with RPL and normozoospermic controls. Result(s): Men with RPL had a greater percentage of sperm aneuploidy within the sex chromosomes and chromosomes 18 and 13/21 (1.04% vs. 0.38%; 0.18% vs. 0.03%; 0.26% vs. 0.08%). In total, 40% of men with normal sperm density and motility had abnormal sperm aneuploidy in all the chromosomes analyzed. Men with abnormal sperm density and motility had a higher proportion of sperm sex chromosome aneuploidy than men with normal density/motility (62% vs. 45%). Men with normal strict morphology (>4%) had lower rates of sex chromosome and sperm aneuploidy than men with abnormal strict morphology (28% vs. 57%). There was no association between sperm DNA fragmentation and sperm aneuploidy. Conclusion(s): Men with RPL have increased sperm aneuploidy compared with controls. A total of 40% of men with RPL and normal sperm density/motility had abnormal sperm aneuploidy. Men with oligoasthenozoospermia and abnormal strict morphology had a greater percentage of sperm aneuploidy compared with men with normal semen parameters.

Original languageEnglish (US)
Pages (from-to)906-909.e1
JournalFertility and Sterility
Volume103
Issue number4
DOIs
StatePublished - 2015
Externally publishedYes

Fingerprint

Aneuploidy
Fluorescence In Situ Hybridization
Spermatozoa
Pregnancy
Sex Chromosomes
Sperm Motility
Semen
Sex Chromosome Aberrations
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 13
Habitual Abortion
Intracytoplasmic Sperm Injections
Male Infertility
DNA Fragmentation
Retrospective Studies
Chromosomes
Outcome Assessment (Health Care)

Keywords

  • Aneuploidy
  • FISH
  • Genetics
  • Male infertility

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Reproductive Medicine

Cite this

Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss. / Ramasamy, Ranjith; Scovell, Jason M.; Kovac, Jason R.; Cook, Peter J.; Lamb, Dolores J.; Lipshultz, Larry I.

In: Fertility and Sterility, Vol. 103, No. 4, 2015, p. 906-909.e1.

Research output: Contribution to journalArticle

Ramasamy, Ranjith ; Scovell, Jason M. ; Kovac, Jason R. ; Cook, Peter J. ; Lamb, Dolores J. ; Lipshultz, Larry I. / Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss. In: Fertility and Sterility. 2015 ; Vol. 103, No. 4. pp. 906-909.e1.
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abstract = "Objective: To investigate, in men presenting with recurrent pregnancy loss (RPL), the prevalence of sperm autosome and sex chromosome aneuploidy. Design: Retrospective study. Setting: Male infertility clinic. Patient(s): A total of 140 men with RPL provided semen samples, and five normozoospermic controls provided 140 semen samples for comparison. Recurrent pregnancy loss, documented in the female partners, was defined as a prior miscarriage and/or recurrent IVF/intracytoplasmic sperm injection failure. Intervention(s): Fluorescence in situ hybridization (FISH) was used to detect numerical abnormalities in sex chromosomes (X, Y) and autosomes (13, 18, 21) in ejaculated sperm. Main Outcome Measure(s): Sperm aneuploidy in men with RPL and normozoospermic controls. Result(s): Men with RPL had a greater percentage of sperm aneuploidy within the sex chromosomes and chromosomes 18 and 13/21 (1.04{\%} vs. 0.38{\%}; 0.18{\%} vs. 0.03{\%}; 0.26{\%} vs. 0.08{\%}). In total, 40{\%} of men with normal sperm density and motility had abnormal sperm aneuploidy in all the chromosomes analyzed. Men with abnormal sperm density and motility had a higher proportion of sperm sex chromosome aneuploidy than men with normal density/motility (62{\%} vs. 45{\%}). Men with normal strict morphology (>4{\%}) had lower rates of sex chromosome and sperm aneuploidy than men with abnormal strict morphology (28{\%} vs. 57{\%}). There was no association between sperm DNA fragmentation and sperm aneuploidy. Conclusion(s): Men with RPL have increased sperm aneuploidy compared with controls. A total of 40{\%} of men with RPL and normal sperm density/motility had abnormal sperm aneuploidy. Men with oligoasthenozoospermia and abnormal strict morphology had a greater percentage of sperm aneuploidy compared with men with normal semen parameters.",
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T1 - Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss

AU - Ramasamy, Ranjith

AU - Scovell, Jason M.

AU - Kovac, Jason R.

AU - Cook, Peter J.

AU - Lamb, Dolores J.

AU - Lipshultz, Larry I.

PY - 2015

Y1 - 2015

N2 - Objective: To investigate, in men presenting with recurrent pregnancy loss (RPL), the prevalence of sperm autosome and sex chromosome aneuploidy. Design: Retrospective study. Setting: Male infertility clinic. Patient(s): A total of 140 men with RPL provided semen samples, and five normozoospermic controls provided 140 semen samples for comparison. Recurrent pregnancy loss, documented in the female partners, was defined as a prior miscarriage and/or recurrent IVF/intracytoplasmic sperm injection failure. Intervention(s): Fluorescence in situ hybridization (FISH) was used to detect numerical abnormalities in sex chromosomes (X, Y) and autosomes (13, 18, 21) in ejaculated sperm. Main Outcome Measure(s): Sperm aneuploidy in men with RPL and normozoospermic controls. Result(s): Men with RPL had a greater percentage of sperm aneuploidy within the sex chromosomes and chromosomes 18 and 13/21 (1.04% vs. 0.38%; 0.18% vs. 0.03%; 0.26% vs. 0.08%). In total, 40% of men with normal sperm density and motility had abnormal sperm aneuploidy in all the chromosomes analyzed. Men with abnormal sperm density and motility had a higher proportion of sperm sex chromosome aneuploidy than men with normal density/motility (62% vs. 45%). Men with normal strict morphology (>4%) had lower rates of sex chromosome and sperm aneuploidy than men with abnormal strict morphology (28% vs. 57%). There was no association between sperm DNA fragmentation and sperm aneuploidy. Conclusion(s): Men with RPL have increased sperm aneuploidy compared with controls. A total of 40% of men with RPL and normal sperm density/motility had abnormal sperm aneuploidy. Men with oligoasthenozoospermia and abnormal strict morphology had a greater percentage of sperm aneuploidy compared with men with normal semen parameters.

AB - Objective: To investigate, in men presenting with recurrent pregnancy loss (RPL), the prevalence of sperm autosome and sex chromosome aneuploidy. Design: Retrospective study. Setting: Male infertility clinic. Patient(s): A total of 140 men with RPL provided semen samples, and five normozoospermic controls provided 140 semen samples for comparison. Recurrent pregnancy loss, documented in the female partners, was defined as a prior miscarriage and/or recurrent IVF/intracytoplasmic sperm injection failure. Intervention(s): Fluorescence in situ hybridization (FISH) was used to detect numerical abnormalities in sex chromosomes (X, Y) and autosomes (13, 18, 21) in ejaculated sperm. Main Outcome Measure(s): Sperm aneuploidy in men with RPL and normozoospermic controls. Result(s): Men with RPL had a greater percentage of sperm aneuploidy within the sex chromosomes and chromosomes 18 and 13/21 (1.04% vs. 0.38%; 0.18% vs. 0.03%; 0.26% vs. 0.08%). In total, 40% of men with normal sperm density and motility had abnormal sperm aneuploidy in all the chromosomes analyzed. Men with abnormal sperm density and motility had a higher proportion of sperm sex chromosome aneuploidy than men with normal density/motility (62% vs. 45%). Men with normal strict morphology (>4%) had lower rates of sex chromosome and sperm aneuploidy than men with abnormal strict morphology (28% vs. 57%). There was no association between sperm DNA fragmentation and sperm aneuploidy. Conclusion(s): Men with RPL have increased sperm aneuploidy compared with controls. A total of 40% of men with RPL and normal sperm density/motility had abnormal sperm aneuploidy. Men with oligoasthenozoospermia and abnormal strict morphology had a greater percentage of sperm aneuploidy compared with men with normal semen parameters.

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KW - Genetics

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