Prenatal Genetics

The Department of Genetics provides comprehensive prenatal genetic testing and genetic counseling services including:

  • Chorionic villus sampling (CVS)
  • Amniocentesis
  • First trimester screening
  • Second trimester screening
  • Fetal blood sampling
  • Fetal tissue biopsy
  • Detailed ultrasound examinaton
  • Fetal karyotyping
  • Biochemical testing
  • FISH analysis
  • Molecular genetic analysis
  • Array comparative genomic hybridization (chromosomal microarray)
  • Carrier testing for cystic fibrosis, fragile X syndrome, spinal muscular atrophy, hemoglobinopathies, Ashkenazi Jewish genetic diseases
  • Referrals to the Yale Fertility Center for in vitro fertilization, preimplantation genetic diagnosis
  • Supportive counseling

Prenatal Diagnosis Staff
Maurice J. Mahoney, MD, FACMG, Director

Genetic Counselors
Joanne Stanis, MS, ABMG, Supervising genetic counselor
Miriam S. DiMaio, MSW, ABMG
Lara Maltby, MS, ABGC
Laura Harris, MS
Mary Beth Kovalcin, MS
Amber Pryzbylski, MS

Contact information:
Department of Genetics
Yale University School of Medicine
Tel. 203 785-2661
Fax. 203 785-7673

Location of clinic: Long Wharf Office Yale Maternal Fetal Medicine

Prenatal Genetics Outreach Clinics at Lawrence and Memorial Hospital, New London and Waterbury Hospital.