Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma.

作者信息

Amicucci P, Gennarelli M, Novelli G, Dallapiccola B

机构信息

Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via Di Tor Vergata 135, 00133 Rome, Italy.

出版信息

Clin Chem. 2000 Feb;46(2):301-2.

PMID:10657396

Abstract

摘要

相似文献

Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma.

Clin Chem. 2000 Feb;46(2):301-2.

First-trimester prediction in fetus at risk for myotonic dystrophy.

Lancet. 1986 Aug 9;2(8502):350-1. doi: 10.1016/s0140-6736(86)90044-9.

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.

Am J Obstet Gynecol. 1991 Mar;164(3):751-5. doi: 10.1016/0002-9378(91)90509-p.

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.

J Med Genet. 2001 Dec;38(12):850-2. doi: 10.1136/jmg.38.12.850.

Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.

JAMA. 1993 Apr 21;269(15):1960-5.

[Two cases of myotonic dystrophy diagnosed by DNA analysis].

Nihon Sanka Fujinka Gakkai Zasshi. 1995 Apr;47(4):433-6.

Molecular diagnosis of myotonic dystrophy.

J Med Genet. 1993 Jun;30(6):533. doi: 10.1136/jmg.30.6.533.

[Prenatal diagnosis of myotonic dystrophy: the first experience in Spain].

Med Clin (Barc). 1990 Apr 14;94(14):538-40.

Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother: case report and literature review.

Am J Med Genet. 1998 Jul 7;78(3):250-3.

Computations for prenatal prediction of myotonic dystrophy.

Lancet. 1976 Nov 27;2(7996):1198-9. doi: 10.1016/s0140-6736(76)91711-6.

引用本文的文献

Expanding the scope of non-invasive prenatal screening.

Nat Genet. 2025 Oct 16. doi: 10.1038/s41588-025-02377-x.

The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).

Int J Womens Health. 2025 May 7;17:1271-1283. doi: 10.2147/IJWH.S437214. eCollection 2025.

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Int J Mol Sci. 2025 Jan 10;26(2):570. doi: 10.3390/ijms26020570.

Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.

Extracell Vesicles Circ Nucl Acids. 2023 Feb 22;4(1):3-26. doi: 10.20517/evcna.2022.44. eCollection 2023.

Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.

Nat Med. 2024 Feb;30(2):470-479. doi: 10.1038/s41591-023-02774-x. Epub 2024 Jan 22.

Non-invasive prenatal testing: a revolutionary journey in prenatal testing.

Front Med (Lausanne). 2023 Nov 9;10:1265090. doi: 10.3389/fmed.2023.1265090. eCollection 2023.

Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders.

Clin Sci (Lond). 2022 Nov 30;136(22):1615-1629. doi: 10.1042/CS20210380.

The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review.

Int J Reprod Biomed. 2022 Sep 6;20(8):613-626. doi: 10.18502/ijrm.v20i8.11751. eCollection 2022 Aug.

Single-molecule sequencing reveals a large population of long cell-free DNA molecules in maternal plasma.

Proc Natl Acad Sci U S A. 2021 Dec 14;118(50). doi: 10.1073/pnas.2114937118.

Droplet-based digital PCR for non-invasive prenatal genetic diagnosis of α and β-thalassemia.

Biomed Rep. 2021 Oct;15(4):82. doi: 10.3892/br.2021.1458. Epub 2021 Aug 9.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验