Rare chromosomal, genetic, and epigenetic-related risks associated with infertility treatment

Jennifer J Kurinczuk, Siladitya Bhattacharya

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

This article reviews the rarer chromosomal, genetic, and epigenetic-related risks of adverse child outcomes associated with infertility and its treatment. Excess structural chromosomal anomalies have been found in both male and female partners undergoing infertility treatment, and these risk direct transmission to offspring. Microdeletions of the Y-chromosome associated with male infertility have been transmitted to sons following treatment with intracytoplasmic sperm injection. It is thus possible that male offspring of men with infertility could experience fertility problems in adulthood. Infertility treatment for men with cystic fibrosis, or with congenital bilateral absence of the vas deferens in the absence of cystic fibrosis, who have azoospermia is now possible using surgically retrieved sperm. Transmission of known cystic fibrosis mutations can be avoided by testing the female partner prior to treatment and offering pre-implantation genetic diagnosis if she is a carrier. The effect of infertility and its treatment on genomic imprinting is of increasing concern as our understanding of the mechanisms of imprinting in germ cell development and embryogenesis expands. At present, it is far from clear whether there are longstanding effects of infertility per se or of its treatment on the health of adults who were conceived following assisted reproductive technologies, but available data suggest that this should be of concern and long-term follow-up studies are required.

Original languageEnglish
Pages (from-to)250-253
Number of pages4
JournalSeminars in Fetal & Neonatal Medicine
Volume19
Issue number4
Early online date2 Jun 2014
DOIs
Publication statusPublished - Aug 2014

Fingerprint

Epigenomics
Infertility
Cystic Fibrosis
Therapeutics
Genomic Imprinting
Azoospermia
Assisted Reproductive Techniques
Intracytoplasmic Sperm Injections
Male Infertility
Nuclear Family
Germ Cells
Embryonic Development
Fertility
Spermatozoa
Mutation
Health

Keywords

  • IVF
  • ART
  • chromosome anomalies
  • cystic fibrosis
  • genomic imprinting
  • health outcomes
  • imprinting disorders
  • microdeletions

Cite this

Rare chromosomal, genetic, and epigenetic-related risks associated with infertility treatment. / Kurinczuk, Jennifer J; Bhattacharya, Siladitya.

In: Seminars in Fetal & Neonatal Medicine, Vol. 19, No. 4, 08.2014, p. 250-253.

Research output: Contribution to journalArticle

@article{dab31a7a78ea43b397d8dae0b5440c18,
title = "Rare chromosomal, genetic, and epigenetic-related risks associated with infertility treatment",
abstract = "This article reviews the rarer chromosomal, genetic, and epigenetic-related risks of adverse child outcomes associated with infertility and its treatment. Excess structural chromosomal anomalies have been found in both male and female partners undergoing infertility treatment, and these risk direct transmission to offspring. Microdeletions of the Y-chromosome associated with male infertility have been transmitted to sons following treatment with intracytoplasmic sperm injection. It is thus possible that male offspring of men with infertility could experience fertility problems in adulthood. Infertility treatment for men with cystic fibrosis, or with congenital bilateral absence of the vas deferens in the absence of cystic fibrosis, who have azoospermia is now possible using surgically retrieved sperm. Transmission of known cystic fibrosis mutations can be avoided by testing the female partner prior to treatment and offering pre-implantation genetic diagnosis if she is a carrier. The effect of infertility and its treatment on genomic imprinting is of increasing concern as our understanding of the mechanisms of imprinting in germ cell development and embryogenesis expands. At present, it is far from clear whether there are longstanding effects of infertility per se or of its treatment on the health of adults who were conceived following assisted reproductive technologies, but available data suggest that this should be of concern and long-term follow-up studies are required.",
keywords = "IVF, ART, chromosome anomalies, cystic fibrosis, genomic imprinting, health outcomes, imprinting disorders, microdeletions",
author = "Kurinczuk, {Jennifer J} and Siladitya Bhattacharya",
note = "Copyright {\circledC} 2014 Elsevier Ltd. All rights reserved.",
year = "2014",
month = "8",
doi = "10.1016/j.siny.2014.04.005",
language = "English",
volume = "19",
pages = "250--253",
journal = "Seminars in Fetal & Neonatal Medicine",
issn = "1744-165X",
publisher = "W.B. Saunders Ltd",
number = "4",

}

TY - JOUR

T1 - Rare chromosomal, genetic, and epigenetic-related risks associated with infertility treatment

AU - Kurinczuk, Jennifer J

AU - Bhattacharya, Siladitya

N1 - Copyright © 2014 Elsevier Ltd. All rights reserved.

PY - 2014/8

Y1 - 2014/8

N2 - This article reviews the rarer chromosomal, genetic, and epigenetic-related risks of adverse child outcomes associated with infertility and its treatment. Excess structural chromosomal anomalies have been found in both male and female partners undergoing infertility treatment, and these risk direct transmission to offspring. Microdeletions of the Y-chromosome associated with male infertility have been transmitted to sons following treatment with intracytoplasmic sperm injection. It is thus possible that male offspring of men with infertility could experience fertility problems in adulthood. Infertility treatment for men with cystic fibrosis, or with congenital bilateral absence of the vas deferens in the absence of cystic fibrosis, who have azoospermia is now possible using surgically retrieved sperm. Transmission of known cystic fibrosis mutations can be avoided by testing the female partner prior to treatment and offering pre-implantation genetic diagnosis if she is a carrier. The effect of infertility and its treatment on genomic imprinting is of increasing concern as our understanding of the mechanisms of imprinting in germ cell development and embryogenesis expands. At present, it is far from clear whether there are longstanding effects of infertility per se or of its treatment on the health of adults who were conceived following assisted reproductive technologies, but available data suggest that this should be of concern and long-term follow-up studies are required.

AB - This article reviews the rarer chromosomal, genetic, and epigenetic-related risks of adverse child outcomes associated with infertility and its treatment. Excess structural chromosomal anomalies have been found in both male and female partners undergoing infertility treatment, and these risk direct transmission to offspring. Microdeletions of the Y-chromosome associated with male infertility have been transmitted to sons following treatment with intracytoplasmic sperm injection. It is thus possible that male offspring of men with infertility could experience fertility problems in adulthood. Infertility treatment for men with cystic fibrosis, or with congenital bilateral absence of the vas deferens in the absence of cystic fibrosis, who have azoospermia is now possible using surgically retrieved sperm. Transmission of known cystic fibrosis mutations can be avoided by testing the female partner prior to treatment and offering pre-implantation genetic diagnosis if she is a carrier. The effect of infertility and its treatment on genomic imprinting is of increasing concern as our understanding of the mechanisms of imprinting in germ cell development and embryogenesis expands. At present, it is far from clear whether there are longstanding effects of infertility per se or of its treatment on the health of adults who were conceived following assisted reproductive technologies, but available data suggest that this should be of concern and long-term follow-up studies are required.

KW - IVF

KW - ART

KW - chromosome anomalies

KW - cystic fibrosis

KW - genomic imprinting

KW - health outcomes

KW - imprinting disorders

KW - microdeletions

U2 - 10.1016/j.siny.2014.04.005

DO - 10.1016/j.siny.2014.04.005

M3 - Article

VL - 19

SP - 250

EP - 253

JO - Seminars in Fetal & Neonatal Medicine

JF - Seminars in Fetal & Neonatal Medicine

SN - 1744-165X

IS - 4

ER -