There are several indicators that can lead to a prenatal (before birth) diagnosis of CdLS. Indicators can be parents with a previous child with CdLS or a recent pregnancy in the family with known genetic changes in CdLS-associated genes. Another indicator may not be a family history, but it may show CdLS on an ultrasound scan of the unborn baby.
If the ultrasound scan shows signs that suggest a genetic condition, the doctor will discuss with the baby's parents the potential benefits and risks of prenatal genetic testing. The doctor will help parents choose the available tests. You can click on this website to get more information about CdLS.
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If the parents have had a previous child with CdLS or have a family member with gene changes associated with CdLS, the doctor will discuss the potential benefits and risks of prenatal genetic testing.
Prenatal genetic testing can be done using DNA from a sample of cells from the placenta (the organ that connects the mother's blood supply to the developing baby) or amniotic fluid (the fluid that surrounds the developing baby in the womb). Genetic testing can identify changes in any of the seven genes associated with CdLS.
Tests can help parents make decisions about further testing, treatment, or care during pregnancy or after the baby is born. It is important to remember that the proposed prenatal testing is not mandatory.