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Microcephaly/Ultrasound/Prenatal Diagnosis

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Question

Microcephaly has been detected on the ultrasound of my unborn child. The doctors have suggested CdLS as a possible diagnosis. The baby's head circumference is in the fifth percentile; no other abnormalities are noted. An MRI and amniocentesis are to be done. Are these diagnostics helpful in making a determination about CdLS?

Answer of our experts

Amniocentesis will detect any chromosomal rearrangement that could be causing microcephaly. An MRI of the fetus will detect any structural changes, including the brain. Neither of these will help with a diagnosis of CdLS, which can only be made clinically, but both may help diagnosis of another condition. Usually fetuses with CdLS will have small size as well as microcephaly, and might have some other ultrasound findings, which are nonspecific. Dr. Kliewer, a pediatric radiologist on our Clinical Advisory Board, is willing to review prenatal ultrasound films. Molecular testing for CdLS could be done, but is only positive in about 65% of individuals

TK 7-13-10

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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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