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Reproductive Genetic Counseling and Testing

Reproductive genetics focuses on reproductive and some fertility issues that can affect families, such as genetic and chromosomal abnormalities that can increase risks to biological children, a family history of genetic abnormalities, reproductive loss, and multiple miscarriages.

Beaumont’s Reproductive Genetics Program helps potential parents understand and assess the risk of having a child with a genetic or chromosomal condition. We work with families who are worried about passing on genetic conditions by offering counseling and testing. The counseling can help you decide whether you want to pursue genetic testing, and if you decide to go ahead with testing, we can help you and your family understand the potential risks of passing on diseases or conditions to your children. We also work with women and their partners after they’ve received test results that show potential fetal abnormalities.

There are many reasons couples seek reproductive genetic counseling and testing. Some of those are:

  • Age – Women who will be 35 years old or older at the time their babies are born are at higher risk
  • Test results that show potential fetal abnormalities/birth defects
  • Women who know that they are carriers for a disease (or their partners are carriers)
  • Couples who have a family history of genetic abnormalities
  • People from certain ethnic backgrounds that put them at higher risk for certain genetic issues may want to have ethnic screening 
  • Women who have a personal history of multiple miscarriages and are worried that genetics might play a role in their inability to carry a pregnancy to term

For couples who are planning to conceive but are unsure of whether an inherited or developmental condition will occur, our board certified genetic specialists provide:

Counseling

  • Assistance with coordinating prenatal testing to diagnose a specific genetic disorder
  • Discussing options for fetal screening and testing to help with diagnosis of chromosomal disorders

Common reasons for referral

Women and couples are referred for reproductive genetic testing for a variety of reasons. Some of the most common reasons are:

  • Abnormal ultrasound findings during pregnancy
  • Increased risk for a condition identified by a non-invasive prenatal screen such as a carrier screen, cell-free DNA screen, first trimester screen, or quad screen
  • To have carrier screening when there is a family history of a particular genetic condition that may be passed to children
  • Maternal age over 35 at delivery
  • A history of multiple miscarriages
  • Medication, infection or occupational exposure in pregnancy 

Some of the tests we offer are:

  • Serum screening for chromosome abnormalities and open neural tube defects
  • Chorionic villus sampling (otherwise known as CVS)
  • Amniocentesis
  • Fetal ultrasound (anatomic survey and echocardiogram)
  • Carrier screenings for conditions, such as:
    • Cystic fibrosis
    • Spinal muscular atrophy (SMA)
    • Blood disorders such as sickle cell and thalassemia
    • Fragile X syndrome

If you are interested in whether reproductive genetic testing is right for you – either before or during pregnancy –make an appointment with a Beaumont reproductive genetic counselor today. 

Dearborn: 313-593-7521

Royal Oak: 248-551-0395

Common reasons for referral

  • carrier screenings for thalassemia, sickle cell anemia, cystic fibrosis, and spinal muscular atrophy (SMA), and other related conditions
  • Teratogen exposure 
  • advanced maternal age 
  • multiple miscarriages
  • abnormal ultrasound findings
  • abnormal non-invasive prenatal screen, first trimester screen, or quad screen