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)

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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.)