Home | Calendar | Español | Media Room | Shop | Contact Us

Microcephaly in Prenatal Ultrasound

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?

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



Ask The Expert Home Page > M > CdLS Expert Entry: Microcephaly in Prenatal Ultrasound

Legal Disclaimer:  Please take note that the CdLS Foundation's Ask the Expert service is comprised of volunteer professionals in various areas of focus. Response times may vary and a response is not guaranteed. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child's personal physician, psychologist, educational consultant, or social worker can deliver.