Who to Refer?

 

Prenatal Genetic Counseling

Find a genetic counselor HERE
The following are possible referral indications for prenatal or preconception genetic counseling:

  • Patient > age 35 at delivery. (However, experts recommend that all pregnant women, regardless of age, should be offered screening and testing for chromosome anomalies).
  • Abnormal result on a prenatal screening test (such as first trimester screening, integrated screening, multiple marker screening, etc.) This can also include carrier testing for cystic fibrosis, Tay Sachs, sickle cell anemia, etc.
  • Fetal anomaly found on ultrasound.
  • Chromosome abnormality diagnosed by chorionic villus sampling (CVS) or amniocentesis.
  • Certain medication, occupational, infectious, or illicit drug exposure during pregnancy.
  • Concern and/or questions regarding prenatal screening and diagnostic testing for chromosome conditions and genetic syndromes.
  • Family history of a possible genetic syndrome
  • Previous child or pregnancy with a chromosomal abnormality, genetic syndrome or birth defect
  • Questions regarding preimplantation genetic diagnosis (PGD)
  • History of three or more miscarriages
  • Concern about genetic conditions due to the patient’s ethnic background or consanguinity

Pediatric Genetic Counseling

Find a pediatric genetics clinic in your area HERE.
Referral to a pediatric genetics clinic may be warranted if a patient has any of the following:

  • Abnormal newborn screening result
  • Ambiguous genitalia
  • Congenital hyper- or hyptonia
  • Developmental delay and/or mental retardation (including autistic features, speech delay, motor delays and regression)
  • Dysmorphic features (including ear, eye, mouth and other facial anomalies, and/or facial asymmetry)
  • Single major or multiple major and minor anomalies
  • Unusual growth (overgrowth, short stature, hemihypertrophy, etc.)
  • Unusual skin findings (multiple café-au-lait spots, hyper- or hypopigmented areas, albinism, etc.)
  • Parent carries a known chromosomal rearrangement
  • Recognized or suspected genetic syndrome
  • Cleft lip and or/cleft palate
  • Clotting or bleeding problems
  • Progressive muscle weakness
  • Delayed puberty
  • Congenital hearing loss
  • Failure to thrive
  • Seizure disorder of unknown etiology
  • Hypermobility or joint laxity

  • Cancer Genetic Counseling

    To refer a patient for cancer genetic counseling, or for more information see HERE.
    Possible referral indications for cancer genetic counseling:

  • Cancer < age 50
  • One family member has two or more primary cancers
  • Two or more close family members have the same type of cancer
  • Several generations of the family have the same or related types of cancer
  • A family member of Ashkenazi Jewish ancestry (Eastern or Central European) who has breast or ovarian cancer
  • Polyposis (ten or more colorectal polyps of any histology)
  • Rare cancers, such as sarcoma or male breast cancer
  • An identified mutation in the family that increases the risk to develop cancer
  • Concern about developing cancer because of family history

  • Genetic Evaluation for Adults

    To find a genetics clinic in your area, see HERE.
    Referral for genetic counseling should be considered if the patient has:

  • A personal or family history of Huntington’s disease
  • Cardiovascular disease associated with genetic factors (long QT, hyperlipidemia, etc.)
  • Progressive neurological condition, including unexplained neuropathy, progressive ataxia, early onset dementia
  • Early onset hearing loss
  • Early onset visual loss including retinitis pigmentosa, macular degeneration, cataracts
  • Family history of sudden, unexplained death at a young age
  • Recognized chromosomal or other genetic disorder in the patient or family