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East Cooper MFM Reproductive Genetic Counseling Services

All genetic counseling appointments are provided at our Mount Pleasant location:
1625 Hospital Drive, Suite 370B
Mount Pleasant, SC 29464

What we do:

We provide a range of services from preconception counseling to in-depth discussion of prenatal testing options. During a genetic counseling appointment, we provide reproductive risk assessments, which incorporate personal and family medical history information, discussion of the benefits, limitations, and risks of reproductive screening and diagnostic testing options, and the interpretation of complex genetic testing results.

What to Expect:

When patients are referred for reproductive genetic counseling, they will meet with both the genetic counselor and the maternal-fetal medicine provider for the referral indication. At their reproductive genetic counseling appointment, we will discuss the personal and family history of both the patient and the father of the pregnancy, and we will address any genetic risks related to their history. Additionally, we will review any genetic testing previously done and discuss all available testing the patient to decide if there is any additional testing they would like to pursue (it’s okay if the answer is no!)

Reproductive Genetic Counseling Indications:

  • Positive genetic test results
    • Positive NIPS
    • NIPS failed due to low fetal fraction
    • Positive carrier screening
    • Patient & partner both carriers for the same condition (“carrier couples”)
  • Ultrasound anomalies
    • Structural anomalies with or without prior testing
    • Soft markers without prior testing
    • Structural or soft markers with incomplete workup
      Ex: Thick NT with normal NIPS but no evaluation for Noonan syndrome
      Ex: Echogenic bowel with normal NIPS but no cystic fibrosis carrier screening or infection studies
  • Family history of known genetic conditions
    • Recessive conditions such as cystic fibrosis, PKU, sickle cell disease, etc.
    • Aneuploidy conditions such as Down syndrome, trisomy 18, trisomy 13, etc.
    • Chromosome deletion/duplication syndromes such as 22q11.2 deletion syndrome
    • Chromosome rearrangements
  • Family history of congenital anomalies such as congenital heart defect or cleft lip or cleft palate
  • Family history of complex disorders that often have an underlying genetic etiology such as intellectual disability, developmental delay, autism spectrum disorder, or seizures
  • Advanced maternal age with no aneuploidy screening
  • Recurrent pregnancy loss
  • Prior unexplained stillbirth or infant loss
  • Patient desires genetic counseling!

*Due to the scope of reproductive genetic counseling, we do not see patients due to a family history of cancer or adult-onset neurodegenerative diseases such as Huntington’s disease, Parkinson’s disease, and Alzheimer’s disease unless the patient has a known genetic variant and would like to discuss prenatal testing for that specific variant.

Meet our Genetic Counselor

 

Taylor Kupneski is a nationally certified genetic counselor through the American Board of Genetic Counseling. An Ohio native, she received her B.S. in Biological Sciences (Cellular/Molecular) from the University of Cincinnati and relocated to Columbia, SC for her M.S. in Genetic Counseling from the University of South Carolina School of Medicine. During her training she saw prenatal and preconception patients at UNC Chapel Hill and MUSC, pediatric patients at Greenwood Genetic Center, and patients at University Hospital in Augusta, GA for cancer genetic counseling. She also has training experience in utilization management through InformedDNA and industry experience through Quest Diagnostics Laboratory. She worked at Atrium Health CMC Women’s Care MFM as a contracted prenatal genetic counselor through LabCorp before joining us at East Cooper MFM. In addition to her love of women’s health, she has a passion for provider education to help expand the genetic knowledge-base for both patients, and her partners in patient care. 

Referrals:

Please send all referrals as usual to East Cooper Maternal Fetal Medicine Specialists and specify any genetic counseling indications. Questions about a referral? Contact us at 843-883-1007 opt. 5 to speak directly to our genetic counselor regarding the referral.