Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in theMTM1 gene

1998 ◽  
Vol 11 (1) ◽  
pp. 62-68 ◽  
Author(s):  
Stephan M. Tanner ◽  
Jocelyn Laporte ◽  
Christophe Guiraud-Chaumeil ◽  
Sabina Liechti-Gallati
Keyword(s):  
Prenatal Diagnosis ◽  
Myotubular Myopathy ◽  
Mutational Screening ◽  
New Mutations

Difficulties in the prenatal diagnosis of myotubular myopathy by ultrasonography

1989 ◽  
Vol 17 (9) ◽  
pp. 685-688 ◽  
Author(s):  
Vern L. Katz ◽  
Nancy P. Callanan ◽  
Henry N. Kirkman
Keyword(s):  
Prenatal Diagnosis ◽  
Myotubular Myopathy

Mutational Screening and Prenatal Diagnosis of ?-Thalassemia in Pakistani Families

2021 ◽  
Vol 02 (02) ◽  
Author(s):  
Mazhar MW ◽  
Mazhar F ◽  
Mahmood J ◽  
Saif S ◽  
Javed S
Keyword(s):  
Prenatal Diagnosis ◽  
Mutational Screening ◽  
Pakistani Families

Alpha thalassemia major—new mutations, intrauterine management, and outcomes

Hematology ◽  
2009 ◽  
Vol 2009 (1) ◽  
pp. 35-41 ◽  
Author(s):  
Elliott P. Vichinsky
Keyword(s):  
Prenatal Diagnosis ◽  
Ethical Dilemmas ◽  
Thalassemia Major ◽  
Population Screening ◽  
Maternal Complications ◽  
Transfusion Therapy ◽  
Alpha Thalassemia ◽  
The Family ◽  
Intrauterine Transfusion ◽  
New Mutations

Abstract Alpha thalassemia disorders are a group of hereditary anemias caused by absent or decreased production of the alpha chain of hemoglobin. Hemoglobin Bart’s hydrops fetalis is usually a fatal in-utero disease caused by absence of the alpha genes. However, the molecular and genotypic expression of hemoglobin Bart’s varies and increasing numbers of births are being reported. Population screening and prenatal diagnosis of at-risk couples is essential but often not performed. Most affected pregnancies are often undetected, resulting in severe fetal and maternal complications. Noninvasive monitoring by Doppler ultrasonagraphy with intrauterine transfusion therapy has changed the prognosis for this disorder. These advances in intrauterine and postnatal therapy have resulted in ethical dilemmas for the family and the provider.

Prenatal diagnosis of X-linked myotubular myopathy

2010 ◽  
Vol 30 (2) ◽  
pp. 177-179 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Schu-Rern Chern ◽  
Fuu-Jen Tsai ◽  
Tao-Yeuan Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Myotubular Myopathy

A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia ◽  
2001 ◽  
Vol 7 (4) ◽  
pp. 416-418 ◽  
Author(s):  
M. Acquila ◽  
F. Bottini ◽  
A. Valetto ◽  
D. Caprino ◽  
P. G. Mori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia B ◽  
New Strategy

185: Does Prenatal Diagnosis Influence the Morbidity Associated with Left in Non or Poorly-Functioning Renal Moiety After Endoscopoic Puncture of Ureterocele?

2004 ◽  
Vol 171 (4S) ◽  
pp. 49-49
Author(s):  
Boris Chertin ◽  
Ron Rabinowitz ◽  
Avner Polak ◽  
Irit Hadas-Halpren ◽  
Amicur Farkas
Keyword(s):  
Prenatal Diagnosis
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