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diagnosis of CdLS prenatally (before birth)

 
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome. 

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.


                                                                                                                                                                                                                                

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