About Us
Clinical Services
Northwestern Reproductive Genetics, established in 2001 by Dr. Eugene Pergament, is one of the leading providers of clinical and laboratory genetic services in Chicago. Our clinical practice is focused on prenatal screening and diagnosis, population based carrier screening, and evaluation of personal and family histories through genetic counseling.
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.
Carrier Screening
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
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.
Teratogen Counseling
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.
