HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH

1988 ◽  
Vol 8 (2) ◽  
pp. 131-143 ◽  
Author(s):  
H. Grosse-Wilde ◽  
E. Valentine-Thon ◽  
U. Vögeler ◽  
E. Passarge ◽  
F. Lorenzen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Second Trimester

Second trimester prenatal diagnosis of the fragile X

1986 ◽  
Vol 23 (1-2) ◽  
pp. 313-324 ◽  
Author(s):  
Niels Tommerup ◽  
Pertti Aula ◽  
Björn Gustavii ◽  
Arvid Heiberg ◽  
Gösta Holmgren ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X ◽  
Second Trimester

Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Giulia Garofalo ◽  
Marie Cassart ◽  
Julie Désir ◽  
Dominique Thomas
Keyword(s):  
Prenatal Diagnosis ◽  
Family History ◽  
Genetic Diagnosis ◽  
Ultrasound Diagnosis ◽  
Second Trimester ◽  
Fetal Ultrasound ◽  
Case Presentation ◽  
Sonographic Diagnosis ◽  
Congenital Ichthyosis ◽  
Prenatal Genetic Diagnosis

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.

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