Experience stories

diagnosis of CdLS prenatally (before birth)


There are several indicators that can lead to diagnosis of CdLS prenatally (before birth). Indicators may include parents with an earlier child with CdLS, or a new pregnancy in a family with a known genetic change in a gene associated with CdLS.

Another indicator may be no family history but features suggestive of CdLS on an ultrasound scan of an unborn baby.

Recommendation(s)

diagnosis of CdLS prenatally (before birth)

R7
If a prenatal ultrasound scan (sonography) detects features consistent with CdLS, possibilities for prenatal genetic testing should be discussed with the parents.
R8
If a causative gene change has been detected in an earlier child or pregnancy, reliable prenatal diagnostic testing should be discussed with the family. Targeted variant testing can be performed using DNA derived from the placenta or amniotic fluid.

Nobody shared a story (yet) on diagnosis of CdLS prenatally (before birth), please share your story on this topic!


                                                                                                                                                                                                                                                                             

                                                                                                                                                                                                                                                                                                                                                                                                               


  

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: info@cdlsWorld.org