Is It Genetic? Who Should Be Referred to Genetics Clinics?

Charlie Myers, MSW

The types of patients who should be referred for genetic evaluation and counseling are listed below:

• Individuals with a clinical suspicion or picture of a classical chromosomal disorder, such as Down Syndrome or Turner Syndrome
• Children with a major malformation, such as cleft lip or cleft palate, or with dysmorphic features (unusual appearance) such as low-set ears
• Children with multiple congenital anomalies, or women with multiple miscarriages or stillbirths
• Children with hearing problems, developmental delay, or developmental regression of unknown cause
• Families with several members affected by similar problems such as seizures, mental retardation, hypotonia (poor or decreased muscle tone), or peculiar features
• Infants born small for gestational age (intrauterine growth retardation), those with failure to thrive of undetermined cause, or children of any age with very short stature of undetermined cause
• Individuals with ambiguous genitalia (not clearly male or female)
• Women with no periods (menses), or women who are unable to conceive and are also consulting with a women's infertility medical specialist
• Women who may become pregnant and:
  • Have a previous child with chromosomal aberration
    
• Are carriers of balanced chromosomal rearrangements
• Are known carriers of X-linked disorders, such as hemophilia
• Are known carriers of biochemical or metabolic disease, such as cystic fibrosis or Tay Sachs
• Have a family history of neural tube defects, such as spina bifida
• Women who are pregnant and:
  • Have a baby with a birth defect found on ultrasound

Referrals may be made by a physician, nurse, social worker, other health professional, or an interested family member.

For information on genetics clinics, call your primary care physician, the local parish health unit,
or one of the major Louisiana genetic centers listed below:

LSU Health Sciences Center-New Orleans / Children's Hospital
1-800-299-9511, ext. 4254, or 504-896-9254

Ochsner-Division of Medical Genetics
504-842-3900

LSU Health Sciences Center-Shreveport
318-675-7987

Tulane Hayward Genetics Center
1-800-588-5800 or 504-588-5229

For more information, contact the Louisiana Genetic Diseases Program at 1-800-871-9548.