scholarly journals Trophoblast Retrieval and Isolation from the Cervix (TRIC) for Non-Invasive First Trimester Fetal Gender Determination in a Carrier of Congenital Adrenal Hyperplasia

2015 ◽  
Vol 103 (2) ◽  
pp. e13
Author(s):  
Alan D. Bolnick ◽  
Jay M. Bolnick ◽  
Manvinder Singh ◽  
Rani Fritz ◽  
Brian A. Kilburn ◽  
...  
2018 ◽  
Author(s):  
Irina Bacila ◽  
Carlo L Acerini ◽  
Ruth E Krone ◽  
Leena Patel ◽  
Sabah Alvi ◽  
...  

2013 ◽  
Vol 208 (1) ◽  
pp. S260
Author(s):  
Yali Xiong ◽  
Indhu Prabhakaran ◽  
Eliezer Holtzman ◽  
Stacey Jeronis ◽  
Amen Ness ◽  
...  

2002 ◽  
Vol 22 (10) ◽  
pp. 919-924 ◽  
Author(s):  
V. Mazza ◽  
C. Falcinelli ◽  
A. Percesepe ◽  
S. Paganelli ◽  
A. Volpe ◽  
...  

2012 ◽  
Vol 5 (4) ◽  
pp. 154-160 ◽  
Author(s):  
Erin Keely ◽  
Janine Malcolm

Congenital adrenal hyperplasia (CAH) is a group of autosomal-recessive disorders caused by a reduced or absent enzymatic activity at one of the stages of adrenal steroid biosynthesis. Prenatal exposure to androgens leads to external genital masculinization of the affected female child. In pregnancy, the provider may be optimizing care for the woman with CAH or targeting treatment to reduce virilization in the affected unborn child. For the affected adult woman the goals of therapy in pregnancy are to prevent adrenal insufficiency, reduce fetal exposure to androgens and glucocorticoids and to avoid damage to reconstructed genitalia. For prenatal therapy for prevention of virilization of possibly affected female children, dexamethasone is used. However, questions remain about the efficacy and safety of exposing 7/8 unaffected children in the first trimester. Prenatal treatment should only be undertaken after careful discussion with the parents of the risks and benefits in an experienced centre or as part of a research protocol.


2003 ◽  
Vol 76 (907) ◽  
pp. 448-451 ◽  
Author(s):  
G D Michailidis ◽  
P Papageorgiou ◽  
R W Morris ◽  
D L Economides

2004 ◽  
pp. U63-U69 ◽  
Author(s):  
S Lajic ◽  
A Nordenstrom ◽  
EM Ritzen ◽  
A Wedell

In foetuses at risk of virilising congenital adrenal hyperplasia (CAH), prenatal treatment can be offered by administration of dexamethasone (DEX) via the mother, in order to suppress foetal adrenal androgen oversecretion and prevent genital malformations. The first treated cases were described 20 years ago, and several hundred pregnancies have been reported since. There is a consensus that the treatment effectively prevents or reduces virilisation, but opinions regarding its safety differ. Rare adverse events have been reported in treated children, but no harmful effect has been documented that can be clearly attributed to the treatment. However, few treated foetuses have been followed until adolescence. Animal studies and epidemiological data point to various adverse effects of excess glucocorticoids on the developing foetus. In order to prevent virilisation effectively in females affected with CAH, the prenatal treatment needs to be instituted in the early first trimester, before prenatal diagnosis is possible. Thus, a majority of treated foetuses will receive DEX unnecessarily.The PREDEX study was initiated in Stockholm in 1999 as an open, controlled, non-randomised, multicentre trial. Participating centres are Stockholm, Bergen, Kuopio, Warsaw, London, Lyon and Barcelona. The study has been approved by the ethics committees in each country. The purpose of PREDEX is to evaluate prospectively the prenatal treatment regarding efficacy in preventing virilisation as well as to study its safety for both mothers and treated children. Children are followed until 18 years of age and a wide range of physiological, metabolic and developmental parameters are considered. In Sweden, treatment is not offered outside the frames of the trial.


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