Optional Genetic Testing and Education:
A woman’s risk of having a child with a genetic abnormality is assessed with genetic testing. During pregnancy our providers work closely with patients providing education to assist in choosing the options that make the most sense for you and your family. Ultimately, the decision of what genetic tests to perform, if any, is up to the patient.
Additional information regarding genetic test:
Screening for birth defects – ACOG
Carrier screening is a blood test that is performed to determine if you or your partner carry certain changes in your genes (called “mutations”) that could cause an inherited disorder to be passed on to your children. Having a family member with an inherited genetic condition or having a family member who is a known carrier for a genetic syndrome increases the likelihood that a person is a carrier; however, it is important to remember that these conditions usually occur in families with no previous history of the condition. The conditions included in carrier screening tests other than fragile X syndrome are inherited in an “autosomal recessive” manner. This means that if either partners, or donors, are carriers for the same condition, there is a 25% chance that the pregnancy will inherit the condition.
Some of the more common genetic disorders screened for regardless of age, family history or ethnic background include cystic fibrosis, spinal muscular atrophy and fragile X syndrome.
There are several additional genetic tests which can be used to test for specific genes that there may be an increased risk for based on your family history or ethnicity. These include tests for sickle cell, thalassemia, and a panel of diseases that are more common in people of Ashkenazi Jewish background. We suggest you contact your insurance to determine coverage and if any pre-authorization or referral is needed. The Center for Jewish Genetics in Chicago offers the testing at a reduced rate. Please visit their website, www.jewishgentics.org, for more information including upcoming dates for testing.
Risk of chromosome abnormalities (such as Down’s syndrome) increases with increasing age of the mother. There are a variety of testing options for chromosomal abnormalities.
Prenatal Screening for Chromosomal Abnormities:
First trimester screening is an ultrasound and blood test performed between 11 and 13 weeks. The test determines if the baby is high or low risk for Down’s Syndrome, trisomy 13 and 18. If the test reveals your baby is high risk, we offer additional testing.
Cell free DNA testing, also called non-invasive prenatal testing (NIPT), is the newest screening option for chromosome abnormalities in a pregnancy, and is performed using a blood sample. Cell free DNA testing is able to screen for the most common chromosome abnormalities, including Down Syndrome, trisomy 18, and trisomy 13, as well as Turner syndrome and sex chromosome abnormalities. It can also determine gender. Currently, this test is only available for women over 35 years of age.
Prenatal diagnostic Testing for Chromosomal Abnormalities:
CVS (Chorionic Villus Sampling): This test can be performed at 10-14 weeks. A catheter is inserted into the uterus and cells called chorionic villus cells are removed from behind the placenta and used to grow the baby’s chromosomes for testing.
Amniocentesis: Amniocentesis is a procedure that is typically performed during the 15th or 16th week of pregnancy or later, and involves removing a small amount of amniotic fluid from the amniotic sac. In the amniotic fluid, there are fetal cells called amniocytes. Amniocytes are cells that originated from the fetus and can be tested for chromosome abnormalities or other specific genetic changes.
If you are considering any testing, please contact, one of these facilities:
Insight Medical Genetics – 680 North Lake Shore Drive, Suite 1230, Chicago, IL 60611
P: (312) 981-4400 F: (312) 981-4404 firstname.lastname@example.org
Northwestern Reproductive Genetics – Chicago 312.472.4151
Northwestern Reproductive Genetics – Lake Forest 312.694.8973
Additional optional prenatal testing:
AFP (alpha-fetoprotein) – Neural tube defects (NTDs) are one of the most common birth defects, occurring in approximately one in 1,000 live births in the United States. A NTD is an opening in the spinal cord or brain that occurs very early in human development. The two most common neural tube defects are spina bifida and anencephaly. AFP is a blood screening test done between 15 and 20 weeks to determine if the baby is high or low risk for NTDs. If the test result is high risk, additional testing if offered. This test can be performed in our office.
Please call our office to schedule an appointment with us or click here to access our secure patient portal to request an appointment on-line.