journal cover

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

European Journal of Human Genetics : EJHG

Jun 7, 2012

A T J M Helderman-van den EndenH B Ginjaar

Abstract

Prenatal diagnosis for Duchenne muscular dystrophy (DMD) was introduced in the Netherlands in 1984. We have investigated the impact of 26 years (1984-2009) of prenatal testing. Of the 635 prenatal diagnoses, 51% were males; nearly half (46%) of these were affected or had an increased ri...read more

Mentioned in this Paper

DMD gene
Antenatal Screening Procedures
Prenatal brand of multivitamin
DMD Gene (Procedure)
Dystrophin
Genetic Counseling, Prenatal
Fetus
Muscular Dystrophy, Duchenne
Heart Diseases
Duchenne and Becker Muscular Dystrophy
4
1
42
Paper Details
References
  • References23
  • Citations14
123
  • References23
  • Citations14
12

Feeds With Similar Papers

Prenatal Diagnosis: Congenital Anomalies

Prenatal diagnosis has enabled the detection of chromosomal abnormalities as well as single gene disorders and led to substantive improvements in the detection of congenital anomalies. Here is the latest research.

Genetic Counseling

Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. The process integrates:1. interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; 2. education about inheritance, testing, management, prevention, resources; 3. counseling to promote informed choices and adaptation to the risk or condition.

Muscular Dystrophy

Muscular dystrophy refers to a range of muscle diseases caused by defects in muscle proteins, leading to death of the muscle cells, with loss of muscle tissue, and weakness. Here are the latest discoveries pertaining to this disease.

Myopathies

Myopathies are genetic or acquired disorders of skeletal muscle that lead to varying degrees of weakness, atrophy, and exercise intolerance. Here are the latest discoveries pertaining to this disease.

Related Papers

© 2020 Meta ULC. All rights reserved

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

European Journal of Human Genetics : EJHG

Jun 7, 2012

A T J M Helderman-van den EndenH B Ginjaar

PMID: 22669413

DOI: 10.1038/ejhg.2012.101

Abstract

Prenatal diagnosis for Duchenne muscular dystrophy (DMD) was introduced in the Netherlands in 1984. We have investigated the impact of 26 years (1984-2009) of prenatal testing. Of the 635 prenatal diagnoses, 51% were males; nearly half (46%) of these were affected or had an increased ri...read more

Mentioned in this Paper

DMD gene
Antenatal Screening Procedures
Prenatal brand of multivitamin
DMD Gene (Procedure)
Dystrophin
Genetic Counseling, Prenatal
Fetus
Muscular Dystrophy, Duchenne
Heart Diseases
Duchenne and Becker Muscular Dystrophy
4
1
42

Feeds With Similar Papers

Prenatal Diagnosis: Congenital Anomalies

Prenatal diagnosis has enabled the detection of chromosomal abnormalities as well as single gene disorders and led to substantive improvements in the detection of congenital anomalies. Here is the latest research.

Genetic Counseling

Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. The process integrates:1. interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; 2. education about inheritance, testing, management, prevention, resources; 3. counseling to promote informed choices and adaptation to the risk or condition.

Related Papers

Annals of Neurology

Evidence-based path to newborn screening for Duchenne muscular dystrophy(opens in new tab)

Annals of NeurologyMarch 28, 2012
Jerry R MendellRobert B Weiss
Paper Details
References
  • References23
  • Citations14
123
  • References23
  • Citations14
12

Download from

Publisher
PubMed
/papers/an-urgent-need-for-a-change-in-policy-revealed-by/22669413