Expert consensus on preimplantation genetic testing for spinal muscular atrophy.
10.3760/cma.j.cn511374-20210118-00048
- Author:
THE EXPERT CONSENSUS GROUP FOR PREIMPLANTATION GENETIC TESTING FOR SPINAL MUSCULAR ATROPHY
1
;
Liying YAN
;
Xiaohui ZHU
;
Jin HUANG
;
Jie QIAO
Author Information
1. Reproductive Medicine Center, Peking University Third Hospital, Beijing 100083, China. jie.qiao@263.net.
- Publication Type:Journal Article
- MeSH:
Child;
Consensus;
Genetic Testing;
Humans;
Muscular Atrophy, Spinal/genetics*;
Survival of Motor Neuron 1 Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(2):129-134
- CountryChina
- Language:Chinese
-
Abstract:
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron degenerative disease, which is the most common fatal neuromuscular disease in pediatrics with a high carrier frequency and can lead to progressive symmetrical muscle weakness and atrophy of the trunk and limbs. Preimplantation genetic testing (PGT) can be used to prevent the birth of children with SMA effectively. To standardize PGT technologies for SMA, experts from the fields of neurology, pediatrics and reproductive genetics have discussed and drafted this consensus for guiding its clinical application.
