Prenatal Screening for Chromosome Aneuploidy
Prenatal chromosome screening services include first trimester nuchal translucency and biochemistry screening for Down syndrome (trisomy 21), and trisomy 13/trisomy 18. We also offer a combined first and second trimester screen using the United Screening Approach (USA), which calculates a risk assessment for Down syndrome (trisomy 21), trisomy 18, trisomy 13, Turner syndrome (45,X), triploidy, sex chromosome abnormalities (such as XXX, XXY, XYY), and the overall risk for any chromosome abnormality.
We currently offer population based carrier screening for spinal muscular atrophy, fragile X, and our exclusive extended carrier screening panels for cystic fibrosis and conditions associated with the Ashkenazi Jewish population. Carrier screening may also be available for individuals with a family history of an inherited condition.
Prenatal Diagnostic Testing
Chorionic villus sampling (CVS) and amniocentesis are available as an option for at-risk couples, and are performed in conjunction with The Center for Genetic Medicine at Northwestern University.
Genetic counseling is provided for all individuals having prenatal screening and/or diagnostic testing performed through our office. We also provide genetic consultations for couples with a history of recurrent miscarriage, parents of children with birth defects, couples at risk for a child with a inherited condition, and individuals at risk for familial cancers and other hereditary diseases.
Northwestern Reproductive Genetics is the home for the Illinois Teratogen Information Service, a free statewide service that provides information regarding all types of exposures during pregnancy.