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Prenatal Genetic Diagnosis Program

The Prenatal Genetic Diagnostic Program provides expert genetic screening, testing, and counseling for parents. Our tests and services includefirst-trimester screening, chorionic villus sampling (CVS), amniocentesis, fetal blood sampling (FBS), and many others. After diagnosis, we provide counseling and connect patients to appropriate support networks to help parents adjust to and prepare for their child's special needs. In addition to pioneering the development of CVS and FBS, Yale has the most experienced team for these procedures in New England.

Our Approach

Between 11 and 12 weeks after a woman's last menstrual period, she can instantly learn the baby's risk for Down syndrome and other abnormalities with our safe, noninvasive first-trimester risk assessment. Our team of specially-certified physicians, sonographers, and genetic counselors will provide patients with accurate information as quickly as technology allows. The procedure is simple: Patients provide a blood sample at least one week before their scheduled appointment, then visit us between weeks 11 and 14 of their pregnancy.

Our Services

Our comprehensive prenatal testing and genetic counseling services include:

  • First and second trimester screenings
  • Targeted ultrasound (formerly known as Level II ultrasound). We are equipped to perform targeted vaginal ultrasounds at an early gestational age, and provide diagnostic information early in a woman's pregnancy.
  • Antenatal testing services. These services include nonstress testing, biophysical profiles, fetal versions, and PG gel insertions to help ensure fetal well-being throughout pregnancy.
  • Fetal echocardiography. The Yale Fetal Cardiovascular Center is the most experienced diagnostic and treatment program of its kind in New England and provides the full range of prenatal surgical care. Prenatal ultrasound testing is typically performed during the second trimester to diagnose cardiac conditions in an unborn baby.
  • Chorionic villus sampling (CVS). This is usually performed between the 10th and 12th weeks of pregnancy and involves the removal of a small sample of the placenta from the uterus.
  • Amniocentesis. This is usually performed during the 15thweek of pregnancy or later, the procedure removes a sample of amniotic fluid from the uterus for evaluation.
  • Fetal blood sampling. Fetal bloodis collected directly from the umbilical cord orfetus to test for signs of anemia and otherblooddisorders.
  • Fetal tissue biopsy. This is typically performed between the 17thand 20thweeks of pregnancy, for patients who carry an abnormal gene for a severe skin disease to find out whether or not their fetus is similarly affected.
  • Fetal karyotyping. This involving the collection of chorionic villi, amniotic fluid, or fetalblood to obtain and analyze chromosomes for abnormalities.
  • Biochemical testing
  • Fluorescence in situ hybridization (FISH) analysis. This involves laboratory testing to detect chromosomal abnormalities and other genetic mutations in a patient’s cells.
  • Molecular genetic analysis
  • Array comparative genomic hybridization (to detect missing or extra pieces of chromosomes)
  • Carrier testing. These are tests for cystic fibrosis, fragile X syndrome, spinal muscular atrophy, hemoglobinopathies, and Ashkenazi Jewish genetic diseases