Prenatal Genetic Counseling

Find a reproductive/prenatal genetic counselor in your area 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 testing (PGT)
• 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

Find a cancer genetic counselor in your area 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