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FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

PCR from single cells for preimplantation diagnosis.

P F Ray¹, A H Handyside

¹Human Embryology Laboratory, Institute of Obstetrics and Gynecology, Royal Postgraduate Medical School Hammersmith Hospital, London, UK.

Methods in Molecular Medicine

|March 5, 2011

Summary

Preimplantation genetic diagnosis (PGD) enables the detection of genetic defects in embryos, preventing the transmission of inherited disorders. This advanced technique utilizes nested polymerase chain reaction (PCR) for accurate genetic analysis of single cells.

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Area of Science:

Human Genetics
Reproductive Medicine
Molecular Biology

Background:

Preimplantation genetic diagnosis (PGD) allows for the selection of unaffected embryos in couples at risk of transmitting inherited disorders.
This method avoids pregnancy termination by enabling early detection of genetic defects in human embryos after in vitro fertilization (IVF).
Diagnosis typically involves biopsying single cells from embryos and analyzing them using sensitive molecular techniques.

Purpose of the Study:

To detail the application of nested polymerase chain reaction (PCR) for the detection of single gene defects in human embryos.
To highlight the effectiveness of PGD in preventing the transmission of inherited disorders.
To showcase advancements in PGD for conditions like cystic fibrosis and Lesch-Nyhan syndrome.

Main Methods:

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FISH for Pre-implantation Genetic Diagnosis

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Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

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Single Cell Collection of Trophoblast Cells in Peri-implantation Stage Human Embryos

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Biopsy of one to two cells (blastomeres) from 8- to 10-cell embryos on day 3 postinsemination.
Amplification of informative DNA fragments using nested polymerase chain reaction (PCR).
Nested PCR involves two rounds of amplification to enhance sensitivity and specificity from limited cellular material.

Main Results:

Nested PCR allows for the amplification of target sequences from as few as one or two DNA copies within a single cell.
Successful PGD has been demonstrated for X-linked diseases, cystic fibrosis (CFTR gene), and Lesch-Nyhan syndrome (HPRT gene).
The nested PCR strategy enhances specificity and yield, reducing the impact of nonspecific amplification and contaminants.

Conclusions:

Nested PCR is a highly sensitive and specific method for preimplantation genetic diagnosis of single gene defects.
PGD offers a crucial alternative to later-stage prenatal diagnosis and termination for at-risk couples.
This technique significantly contributes to reproductive options for families with a history of inherited disorders.