[Clinical application and reflection of molecular biology technology in the tertiary prevention of birth defects].

Szczegóły
Abstrakt

Tytuł:: [Clinical application and reflection of molecular biology technology in the tertiary prevention of birth defects].
Autorzy:: Yang JB; Center of Laboratory,the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Shang SQ; Center of Laboratory,the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Źródło:: Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] [Zhonghua Yu Fang Yi Xue Za Zhi] 2021 Sep 06; Vol. 55 (9), pp. 1028-1032.
Typ publikacji:: Journal Article
Język:: Chinese
Imprint Name(s):: Publication: Beijing : Zhonghua yi xue hui
Original Publication: Beijing : Zhonghua yi xue hui [1967?]-
MeSH Terms:: Molecular Biology*
Prenatal Care*
Female ; Humans ; Pregnancy ; Prospective Studies ; Technology ; Tertiary Prevention
Grant Information:: 2021C03099 Zhejiang Key Research and Development Program; 81971422 National Natural Science Foundation of China
Contributed Indexing:: Local Abstract: [Publisher, Chinese] 遗传因素是出生缺陷发生的主要原因。通过对基因组学领域的深入研究以及应用分子生物学技术，在健全的出生缺陷三级预防体系下，从孕前、孕期及出生后筛查分别检测携带状态、胎儿的基因变异情况以及在产后（发病前）进行前瞻性的检测，做到及早诊断和干预，在多个层面进行遗传性出生缺陷的防控。本文阐述和分析目前分子生物学技术在预防出生缺陷相关遗传病中的临床应用，并思考所面临的挑战。.
Entry Date(s):: Date Created: 20211008 Date Completed: 20211011 Latest Revision: 20211011
Update Code:: 20240104
DOI:: 10.3760/cma.j.cn112150-20210414-00366
PMID:: 34619917
: Czasopismo naukowe

Genetic factors are the main causes in occurrence of birth defects. With deep research in the field of genomics and application of molecular biology technology, the carrier status, fetal genetic variation and postpartum screening are respectively detected from pre-pregnancy, pregnancy and post-natal screening (before onset of disease) under perfect three-level prevention and control system for birth defects. Prospective detection, early diagnosis and intervention can prevent the occurrence of birth defects related to genetic diseases at multiple levels. This article describes and analyzes current clinical application and existing challenge of molecular biology techniques in prevention of birth defects related to genetic diseases.

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