open access

Vol 81, No 12 (2010)
ARTICLES
Get Citation

Preimplantation genetic diagnosis in prevention of genetic diseases – diagnostic of spinal muscular atrophy (SMA)

Joanna Liss, Anna Bruszczyńska, Krzysztof Łukaszuk
Ginekol Pol 2010;81(12).

open access

Vol 81, No 12 (2010)
ARTICLES

Abstract

Summary Introduction: Preimplantation genetic diagnosis, PGD, is an established procedure allowing genetic research of the oocyte or embryo before implantation to the uterus. A neurodegenerative disorder known as spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of the disease, with type I (Werding-Hoffman Disease) being the most severe. Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene (SMN1) on chromosome 5 (5q13.3). Objectives: The aim of the present work was to performed PGD for SMA in 5 couples who had already had a child affected with SMA. Material and Methods: All patients underwent a standard IVF procedure associated with intracytoplasmic sperm injection. 6-8 cell embryos were biopsied on day 3 of culture. Single cell nested PCR-RFLP protocol for PGD of SMA was used for the detection of the mutation. Results: In the course of IVF-PGD procedures all patients had a transfer of embryos without SMN1 deletions. Four out of the five couples delivered healthy babies. Conclusions: Preimplantation genetic diagnosis (PGD) of monogenic disorders is a very efficient method, especially for patients whose previous child is homozygous for genetic disorders. It offers new possibilities for the treatment for genetic disease carriers.

Abstract

Summary Introduction: Preimplantation genetic diagnosis, PGD, is an established procedure allowing genetic research of the oocyte or embryo before implantation to the uterus. A neurodegenerative disorder known as spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of the disease, with type I (Werding-Hoffman Disease) being the most severe. Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene (SMN1) on chromosome 5 (5q13.3). Objectives: The aim of the present work was to performed PGD for SMA in 5 couples who had already had a child affected with SMA. Material and Methods: All patients underwent a standard IVF procedure associated with intracytoplasmic sperm injection. 6-8 cell embryos were biopsied on day 3 of culture. Single cell nested PCR-RFLP protocol for PGD of SMA was used for the detection of the mutation. Results: In the course of IVF-PGD procedures all patients had a transfer of embryos without SMN1 deletions. Four out of the five couples delivered healthy babies. Conclusions: Preimplantation genetic diagnosis (PGD) of monogenic disorders is a very efficient method, especially for patients whose previous child is homozygous for genetic disorders. It offers new possibilities for the treatment for genetic disease carriers.
Get Citation

Keywords

preimplantation genetic diagnosis, Werding-Hoffman syndrome, genetic disease

About this article
Title

Preimplantation genetic diagnosis in prevention of genetic diseases – diagnostic of spinal muscular atrophy (SMA)

Journal

Ginekologia Polska

Issue

Vol 81, No 12 (2010)

Bibliographic record

Ginekol Pol 2010;81(12).

Keywords

preimplantation genetic diagnosis
Werding-Hoffman syndrome
genetic disease

Authors

Joanna Liss
Anna Bruszczyńska
Krzysztof Łukaszuk

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk
tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl