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The NSMC Genetics program is connected to
The National Birth Defects Center in Waltham, MA.
We provide counseling on all aspects of genetically transmitted disease
, working with individuals who are at risk for a particular condition based on family history; with pregnant women with a suspected fetal abnormality; and with families who already have an affected child.
Dr. Catherine Nowak from The National Birth Defects Center travels to Salem to work with patients at MassGeneral for Children at North Shore Medical Center.
We also specialize in diagnosis and management of inherited conditions, including:
- chromosomal disorders (such as Down syndrome, Fragile X syndrome, and sex chromosome aneuploidies)
- neurogenetic disorders (such as Neurofibromatosis and Tuberous Sclerosis)
- craniofacial disorders
- skeletal dysplasias
- various types of birth defects
- other congenital anomalies
- unexplained developmental delay/mental retardation
More about genetics in the Health Library
