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Reproductive Genetic Counseling Program

The Reproductive Genetic Counseling Program at Yale is made up of board certified and licensed genetic counselors and physicians who specialize in prenatal and reproductive genetic risk assessment and the latest genetic testing technologies. Our team provides expert guidance for individuals and couples who are pregnant or planning to become pregnant.

As part of the genetic counseling process, our genetic counselors may obtain pregnancy, medical, and family histories; review test results; identify and address issues of concern; describe available screening and diagnostic test options; advocate for their patients; provide short-term psycho-social support; collaborate with specialists; and assist individuals with making decisions that are best for themselves and their families.

Common reasons for referral include:

  • Personal or family history of a known or suspected genetic condition
  • Personal or family history of a congenital disorder and/or intellectual disability
  • Multi-fetal pregnancy (twins, triplets, quadruplets, etc.)
  • Abnormal ultrasound findings
  • Recurrent pregnancy loss
  • Abnormal cell-free DNA or maternal serum screening results
  • Interest in pursuing prenatal diagnostic testing (chorionic villus sampling [CVS] or amniocentesis)

Our Services

Some test options that may be discussed during a reproductive genetic counseling session include:

  • Genetic carrier screening
  • First trimester ultrasound with nuchal translucency assessment
  • Second trimester fetal anatomy scan
  • Screening tests
    • Combined first trimester screening
    • Second trimester maternal serum marker screening (i.e. quad screen)
    • Cell-free DNA screening
  • Diagnostic testing
    • Chorionic villus sampling
    • Amniocentesis
    • F.I.S.H. analysis
    • Standard chromosome analysis
    • Microarray analysis/array comparative genomic hybridization
    • Whole exome sequencing
  • Preimplantation genetic testing (P.G.T.)

For appointments, please call 203-495-2949