Prenatal Genetics provides up-to-date information about the inheritance of genetic conditions, the cause of various birth defects, and the tests that are available to determine whether an individual/couple has a chance to have a child with that condition or birth defect.
We offer tests to determine whether a pregnancy may be affected with a birth defect or genetic condition.
We welcome contact from those who are planning a pregnancy, or are already pregnant and concerned about having a baby with a problem, particularly:
- if there is a family history of birth defects, intellectual disabilities, or a genetic condition;
- women who will be 35 years of age or older at delivery;
- women who have an abnormal first or second trimester screening test for birth defects (also known as nuchal translucency (NT) testing, hCG and PAPP-A screening, and AFP, AFP3 or QUAD test);
- those looking for more information about whether to have a first or second trimester screening test (nuchal translucency, QUAD testing, etc.);
- women/couples interested in preimplantation genetic diagnosis;
- those interested in pre-procedure counseling for tests, such as CVS (chorionic villus sampling), targeted (level II) ultrasound, amniocentesis, and fetal echocardiogram; and
- those interested in noninvasive prenatal testing (also known as Harmony and MaterniT21) for Down syndrome, Trisomy 18, or Trisomy 13.
Genetic counselors and physicians provide risk assessment and genetic evaluation in a future or current pregnancy. Genetic counselors provide support for couples trying to make decisions about:
- whether to have genetic testing prior to conception;
- whether to have prenatal testing;
- whether to continue a pregnancy affected with a birth defect and/or genetic condition; and
- whether to attempt another pregnancy after having a problem pregnancy.
On occasion, concerns can be addressed by phone.
Prenatal genetic counseling often includes grief counseling for individuals and couples who have lost pregnancies and children with birth defects and/or genetic conditions. We can often provide access to support groups, as well as to families raising children with genetic conditions or birth defects.
Hours
Monday through Friday, 8:30 a.m. to 4:30 p.m.
After 4:30 p.m. and on weekends, call
860-679-2626 and have the geneticist on-call paged.
Staff
Brittany L. Gancarz, M.S., C.G.C.
Robin Aponte
Office Assistant
Contact Us
Division of Medical Genetics
UConn Health
263 Farmington Avenue
Farmington, CT 06030-2812
Phone: 860-679-1440
Fax: 860-679-0145