Prenatal diagnosis in Marfan syndrome is not yet routinely available. Rarely, an affected fetus has been diagnosed based on ultrasound findings. For the most part, prenatal diagnosis will be undertaken in a family in which there is an affected parent and molecular studies have demonstrated a mutation that can be identified by DNA studies in fetal cells or in which there are multiple affected members and linkage studies are informative. If the pregnant mother is affected, she should be under the care of a physician who is aware of the complexities of management of pregnancy in Marfan syndrome. When appropriate, referral of the family to a clinical geneticist should be considered for a more extended discussion of recurrence rates, reproductive options, and evaluation of risks to other family members.
Considerable variability exists in phenotype within and between families.
Evaluate the newborn for scoliosis. Evaluate the joints for laxity and contractures. Lens dislocation usually follows years of subluxation. Evaluation requires slit lamp examination and evaluation by a pediatric ophthalmologist. Cardiovascular Check the newborn for the presence of a murmur, which indicates aortic valve insufficiency, mitral valve prolapse, or mitral valve insufficiency.