Reproductive Genetics
Reproductive Genetics provides genetic counseling, preconception screening, prenatal screening, and prenatal diagnosis for a variety of birth defects and genetic disorders. Genetic counseling is also available for infertility and other problems with conception and pregnancy.
To schedule an appointment, please call 312.472.4151.
Services
Reproductive Genetics provides the most current prenatal screening and diagnostic testing options available to all of our patients. Screening and diagnostic tests are two different options for getting more information about the chance that your pregnancy has certain birth defects or genetic disorders.
Genetic Consultation
Genetic consultation is available for a variety of indications. During a genetic consultation, information about you and the father of your baby’s personal and family histories will be collected and reviewed in order to determine potential risks for birth defects or genetic disorders. You will be provided with information about the screening and diagnostic testing options available to you based on these risks.
Genetic consultation is available before pregnancy, during pregnancy, or after pregnancy for women and men. Common reasons for genetic consultation include:
Diagnostic Tests
Diagnostic tests diagnose certain genetic disorders. These tests are performed on cells obtained through chorionic villus sampling (CVS) or amniocentesis. While these tests provide a “yes or no” answer, there is a possibility of miscarriage due to the procedure.
Chorionic Villus Sampling (CVS)
CVS is a diagnostic test that is performed during the first trimester, usually between 10 and 14 weeks of pregnancy. The main purpose of CVS is usually to test for chromosome conditions, including Down syndrome, trisomy 18, and trisomy 13. CVS can also be used to test for other genetic conditions that your baby may be at risk for based on family history or carrier screening results. CVS is usually performed in one of two ways, either by inserting a needle through the abdomen or a catheter through the cervix to collect a small piece of the placenta. Specific risks of miscarriage will be discussed at your visit.
Amniocentesis
Amniocentesis is a diagnostic test that is performed during the second or third trimesters, usually between 15 and 21 weeks of pregnancy. The main purpose of amniocentesis is usually to test for chromosome conditions, including Down syndrome, trisomy 18, and trisomy 13. Amniocentesis can also be used to test for other genetic conditions that your baby may be at risk for based on family history or carrier screening results. Amniocentesis also screens for open neural tube defects (like spina bifida). Amniocentesis is performed by inserting a needle through the abdomen into the uterus to collect a small sample of amniotic fluid. Specific risks of miscarriage will be discussed at your visit.
Screening Tests
Screening tests provide information about the risk for certain genetic disorders. These tests are performed with blood tests, ultrasounds, or both. Screening tests involve no risk for miscarriage but cannot provide a “yes or no” answer.
Carrier Screening
Carrier screening is a blood test routinely offered to all women and their partners either before pregnancy or early in pregnancy. Carrier screening detects if a person is a carrier for many, but not all, recessive disorders. If you and the father of your baby are both carriers of the same recessive disorder, each child you have together has a 1 in 4 (25 percent) chance of having the disorder. Women are also screened for a number of X-linked disorders. If you are a carrier of an X-linked disorder, each of your daughters has a 1 in 2 (50 percent) chance of being a carrier of the disorder and each of your sons has a 1 in 2 (50 percent) chance of having the disorder. Carriers of genetic disorders are usually healthy, with no signs or symptoms of the disorder, and there is usually no family history of the disorder. Results are usually available about two weeks after blood draw.
Cell-free DNA Screening
A small amount of DNA from the placenta is present in a pregnant woman’s blood (cell-free DNA) and can be used to screen for certain chromosome conditions. Cell-free DNA screening is a blood test that provides information about the risks for Down syndrome, trisomy 18, trisomy 13, and sex chromosome conditions. Cell-free DNA screening can be performed as early as 10 weeks of pregnancy. If results are positive, there is an increased risk for one of the chromosome conditions and you would be offered diagnostic testing. Results are usually available about 7-10 days after blood draw.
Sequential Screening
Sequential screening combines information from two stages of pregnancy to provide information about the risks for Down syndrome, trisomy 18, and open neural tube defects (like spina bifida). The first part of the sequential screen is performed in the first trimester, between 10 and 13 weeks of pregnancy. It involves an ultrasound exam and a blood draw. Information about your pregnancy will be combined with the information from the ultrasound and the blood work to provide a preliminary (or part I) result. This result provides specific risks for Down syndrome and trisomy 18. If the risks are higher than you are comfortable with, you can proceed with diagnostic testing.
If you are comfortable with the risks, you will return for a second blood draw in the second trimester, preferably between 16 and 18 weeks of pregnancy. Information from this blood draw will be combined with the information obtained in the first trimester to provide a final (or part II) result. This result provides specific risks for Down syndrome, trisomy 18, and open neural tube defects. If the risks are higher than you are comfortable with, you can proceed with diagnostic testing. Results of part I and part II are usually available about 1 week after blood draw.
To schedule an appointment, please call 312.472.4151.
Services
Reproductive Genetics provides the most current prenatal screening and diagnostic testing options available to all of our patients. Screening and diagnostic tests are two different options for getting more information about the chance that your pregnancy has certain birth defects or genetic disorders.
Genetic Consultation
Genetic consultation is available for a variety of indications. During a genetic consultation, information about you and the father of your baby’s personal and family histories will be collected and reviewed in order to determine potential risks for birth defects or genetic disorders. You will be provided with information about the screening and diagnostic testing options available to you based on these risks.
Genetic consultation is available before pregnancy, during pregnancy, or after pregnancy for women and men. Common reasons for genetic consultation include:
- Discussion of prenatal screening and diagnostic testing options (options counseling)
- Abnormal prenatal screening or diagnostic test results
- Abnormal fetal ultrasound
- Personal or family history of birth defects, mental retardation, or known genetic disorders
- Recurrent miscarriage
- Multifetal reduction
- Male factor infertility
Diagnostic Tests
Diagnostic tests diagnose certain genetic disorders. These tests are performed on cells obtained through chorionic villus sampling (CVS) or amniocentesis. While these tests provide a “yes or no” answer, there is a possibility of miscarriage due to the procedure.
Chorionic Villus Sampling (CVS)
CVS is a diagnostic test that is performed during the first trimester, usually between 10 and 14 weeks of pregnancy. The main purpose of CVS is usually to test for chromosome conditions, including Down syndrome, trisomy 18, and trisomy 13. CVS can also be used to test for other genetic conditions that your baby may be at risk for based on family history or carrier screening results. CVS is usually performed in one of two ways, either by inserting a needle through the abdomen or a catheter through the cervix to collect a small piece of the placenta. Specific risks of miscarriage will be discussed at your visit.
Amniocentesis
Amniocentesis is a diagnostic test that is performed during the second or third trimesters, usually between 15 and 21 weeks of pregnancy. The main purpose of amniocentesis is usually to test for chromosome conditions, including Down syndrome, trisomy 18, and trisomy 13. Amniocentesis can also be used to test for other genetic conditions that your baby may be at risk for based on family history or carrier screening results. Amniocentesis also screens for open neural tube defects (like spina bifida). Amniocentesis is performed by inserting a needle through the abdomen into the uterus to collect a small sample of amniotic fluid. Specific risks of miscarriage will be discussed at your visit.
Screening Tests
Screening tests provide information about the risk for certain genetic disorders. These tests are performed with blood tests, ultrasounds, or both. Screening tests involve no risk for miscarriage but cannot provide a “yes or no” answer.
Carrier Screening
Carrier screening is a blood test routinely offered to all women and their partners either before pregnancy or early in pregnancy. Carrier screening detects if a person is a carrier for many, but not all, recessive disorders. If you and the father of your baby are both carriers of the same recessive disorder, each child you have together has a 1 in 4 (25 percent) chance of having the disorder. Women are also screened for a number of X-linked disorders. If you are a carrier of an X-linked disorder, each of your daughters has a 1 in 2 (50 percent) chance of being a carrier of the disorder and each of your sons has a 1 in 2 (50 percent) chance of having the disorder. Carriers of genetic disorders are usually healthy, with no signs or symptoms of the disorder, and there is usually no family history of the disorder. Results are usually available about two weeks after blood draw.
Cell-free DNA Screening
A small amount of DNA from the placenta is present in a pregnant woman’s blood (cell-free DNA) and can be used to screen for certain chromosome conditions. Cell-free DNA screening is a blood test that provides information about the risks for Down syndrome, trisomy 18, trisomy 13, and sex chromosome conditions. Cell-free DNA screening can be performed as early as 10 weeks of pregnancy. If results are positive, there is an increased risk for one of the chromosome conditions and you would be offered diagnostic testing. Results are usually available about 7-10 days after blood draw.
Sequential Screening
Sequential screening combines information from two stages of pregnancy to provide information about the risks for Down syndrome, trisomy 18, and open neural tube defects (like spina bifida). The first part of the sequential screen is performed in the first trimester, between 10 and 13 weeks of pregnancy. It involves an ultrasound exam and a blood draw. Information about your pregnancy will be combined with the information from the ultrasound and the blood work to provide a preliminary (or part I) result. This result provides specific risks for Down syndrome and trisomy 18. If the risks are higher than you are comfortable with, you can proceed with diagnostic testing.
If you are comfortable with the risks, you will return for a second blood draw in the second trimester, preferably between 16 and 18 weeks of pregnancy. Information from this blood draw will be combined with the information obtained in the first trimester to provide a final (or part II) result. This result provides specific risks for Down syndrome, trisomy 18, and open neural tube defects. If the risks are higher than you are comfortable with, you can proceed with diagnostic testing. Results of part I and part II are usually available about 1 week after blood draw.