Preimplantation genetic diagnosis: present and future

Fragouli, Elpida

doi:10.1007/s10815-007-9112-2

Cited by 30 publications

(20 citation statements)

References 66 publications

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“…In the future, more detailed screening of infertile men, sperm, and embryos using approaches like comparative genomic hybridization or microarray analysis will likely result in the detection of more subtle structural defects. This may redefine the approach to testing for chromosomal abnormalities and provide a basis for observed sperm aneuploidy in 46,XY men (44,45).…”

Section: Recommendation For Chromosomal Evaluationmentioning

confidence: 99%

State of the Art for Genetic Testing of Infertile Men

McLachlan

O'Bryan

2010

The Journal of Clinical Endocrinology &Amp; Metabolism

159

101

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Intracytoplasmic sperm injection (ICSI) now provides fertility in many cases of severe idiopathic spermatogenic failure and obstructive azoospermia. Genetic causes must be sought by systematic evaluation of infertile men and affected couples informed about the implications of such diagnoses for assisted reproductive technology outcome and their potential offspring. This review discusses established and emerging genetic disorders related to fertility practice. Chromosomal anomalies are found in about 7% men with idiopathic spermatogenic failure, predominantly numerical/structural in azoospermic men and translocations/inversions in oligospermic men. Routine karyotyping of men with sperm densities less than 10 million/ml, even in the absence of other clinical presentations, is recommended because infertility is associated with higher rates of aneuploidy in ejaculated or testicular sperm and increased chromosomal defects in ICSI offspring. The long arm of the Y chromosome microdeletions are the most common recognized genetic cause of infertility and are found in about 4% men with sperm densities less than 5 million/ml. Routine testing using strict quality assurance procedures is recommended. Azoospermia factor (AZF)-c deletions, the most common form of the long arm of the Y chromosome microdeletions, are usually associated with low levels of sperm in the ejaculate or in testis biopsies, whereas men with AZFa or AZFb+c deletions usually produce no testicular sperm. When AZF-deleted sperm are available and used for ICSI, fertility defects in male offspring seem inevitable. Bilateral congenital absence of the vas is associated with heterozygosity for cystic fibrosis transmembrane receptor mutations making routine gene screening and genetic counseling of the couple essential. Testing for less common genetic associations/defects linked with different reproductive dysfunction may be applicable to specific patients but have not entered routine practice.

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Section: Recommendation For Chromosomal Evaluationmentioning

confidence: 99%

State of the Art for Genetic Testing of Infertile Men

McLachlan

O'Bryan

2010

The Journal of Clinical Endocrinology &Amp; Metabolism

159

101

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“…Common Mendelian disorders that utilize PGD in many centers include cystic fibrosis, beta-thalassemia, sickle cell disease, myotonic dystrophy, Huntington’s disease, Fragile X syndrome, and spinal muscular atrophy among others 2, 11–13 . More recently, a portion of PGD cases include human leukocyte antigen (HLA) typing in addition to monogenic testing for a particular condition, which aids treatment strategies for a living sibling or other relative.…”

Section: Indications For Pgdmentioning

confidence: 99%

“…One example of this is with Fanconi’s anemia 14, 15 . As discussed previously, some of the first uses of PGD involved conditions with X-linked inheritance and amplification of a sequence on the Y chromosome in order to identify females who were presumably healthy for transfer 1, 13 . Soon after, several monogenic disorders like cystic fibrosis followed as the most common indications for PGD as long as a probe containing the causative mutation could be created and used to amplify the DNA sequence in the genome of the embryonic cell.…”

Section: Indications For Pgdmentioning

confidence: 99%

“…Soon after, several monogenic disorders like cystic fibrosis followed as the most common indications for PGD as long as a probe containing the causative mutation could be created and used to amplify the DNA sequence in the genome of the embryonic cell. Over 200 single gene disorders have been reportedly identified with PGD 13 . More ethically debated is the increasing use of PGD for single gene disorders that either have later adult-onset or undefined risk and penetrance profiles.…”

Section: Indications For Pgdmentioning

confidence: 99%

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Preimplantation Genetic Testing: Indications and Controversies

Cooper¹,

Jungheim²

2010

Clinics in Laboratory Medicine

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Synopsis In the last two decades, the use of preimplantation genetic testing has increased dramatically. It is used for single gene disorders, chromosomal abnormalities, mitochondrial disorders, gender selection in non-Mendelian disorders with unequal gender distribution, aneuploidy screening, and other preconceptually identified genetic abnormalities in prospective parents. Genetic testing strategies and diagnostic accuracy continues to improve. Yet, it does not come without risks or controversies. In this review we discuss the techniques and clinical application of preimplantation genetic diagnosis and the debate surrounding its associated uncertainty and expanded use.

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“…9 The analysis is performed on either a polar body biopsy or a blastomere removed from the 8-cell stage embryo on day 3 after fertilization. Embryos not found to have an identifiable genetic defect are then implanted on day 5 postfertilization.…”

Section: Preimplantation Genetic Diagnosismentioning

confidence: 99%

Genomic Medicine in Prenatal Diagnosis

South

Chen²,

Brothman³

2008

Clinical Obstetrics &Amp; Gynecology

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Prenatal diagnostics has seen a rapid increase in the number of genetic disorders amenable to prenatal detection owing to advances in technology and research into the genetic etiology of many conditions. This article reviews the more traditional prenatal diagnostic techniques, such as amniocentesis and chorionic villus sampling for chromosome abnormalities and single gene disorders, and chromosome analysis of products of conception to determine the etiology of a spontaneous abortion, plus more recent advances such as rapid aneuploidy detection via fluorescence in situ hybridization and polymerase chain reaction, preimplantation genetic diagnosis, noninvasive analysis of cell-free fetal DNA in maternal circulation, and array-based comparative genomic hybridization.

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Preimplantation genetic diagnosis: present and future

Cited by 30 publications

References 66 publications

State of the Art for Genetic Testing of Infertile Men

State of the Art for Genetic Testing of Infertile Men

Preimplantation Genetic Testing: Indications and Controversies

Genomic Medicine in Prenatal Diagnosis

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