DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.

ABSTRACT:

Objective

DMD/BMD prenatal diagnosis for 931 foetuses.

Background

DMD is the most common fatal X-linked recessive muscular disease. There is no effective clinical treatment method at present. Accurate gene diagnosis and prenatal diagnosis technology are important ways for early detection, early prevention and early treatment.

Methods

A total of 931 prenatal diagnoses were performed for pregnant women with a definite family history of DMD or a history of DMD childbirth between 2005 and 2019. This report may be considered the largest DMD prenatal diagnosis report in a single centre worldwide. Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing were used in combination. Techniques and short tandem repeat (STR) linkage analysis were used

SUBMITTER: Zhong X 

PROVIDER: S-EPMC8268296 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature