scholarly journals The influence of HIV status on prenatal genetic diagnosis choices

2013 ◽  
Vol 103 (12) ◽  
pp. 1027 ◽  
Author(s):  
Justine S Bee ◽  
Merlyn Glass ◽  
Jennifer G R Kromberg ◽  
Arnold L Christianson
2007 ◽  
Vol 74 (1) ◽  
pp. 65-69 ◽  
Author(s):  
Atsushi Watanabe ◽  
Seiichi Yamamasu ◽  
Toshiya Shinagawa ◽  
Yumi Suzuki ◽  
Hidehiko Miyake ◽  
...  

PEDIATRICS ◽  
1994 ◽  
Vol 93 (6) ◽  
pp. 1010-1015
Author(s):  

Pediatricians may be called upon to counsel a family in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder. In some settings, the pediatrician may be the primary resource for counseling the family. More frequently, counseling may already have been provided by a clinical geneticist and/or obstetrician. However, because of a previous relationship with the family, the pediatrician may be called upon to review this information and to assist the family in the decision-making process. The pediatrician should be familiar with the principles of prenatal genetic diagnosis and know how to apply them to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with resources available in their region for obtaining information about whether and how a specific disorder can be diagnosed and when and where to refer patients for prenatal genetic diagnosis. The technology of prenatal diagnosis is changing rapidly, and genetic consultants can assist pediatricians in the appropriate utilization and interpretation of the diagnostic tests that are available.


2011 ◽  
Vol 32 (4) ◽  
pp. 376-382 ◽  
Author(s):  
Maximilian Schmid ◽  
Susanne Stary ◽  
Wibke Blaicher ◽  
Michaela Gollinger ◽  
Peter Husslein ◽  
...  

2014 ◽  
Vol 42 (5) ◽  
Author(s):  
Giovanni Monni ◽  
Maria Angelica Zoppi ◽  
Ambra Iuculano ◽  
Alessandra Piras ◽  
Maurizio Arras

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Giulia Garofalo ◽  
Marie Cassart ◽  
Julie Désir ◽  
Dominique Thomas

Abstract Background Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis.


Sign in / Sign up

Export Citation Format

Share Document