When Does A Child Need Genetic Services?
If one or more of the following applies to a child you know, he or she might need genetic services. Please contact your local genetic service provider for more information about referrals or call 1-800-252-8023 for a referral to a genetic service provider.
|
Common Reasons for Genetic Referrals
|
|
Birth Defects
- Cataracts
- Cleft Lip and/or Cleft Palate
- Congenital Heart Disease
- Contractures
- Diaphragmatic Hernia
- Genital malformations
- Glaucoma
- Misshapen skull
- Missing fingers or toes
- Missing or incomplete limbs
- Spina Bifida
- Other congenital anomalies
Chronic Disease
- Bleeding disorders
- Childhood cancers
- Cystic Fibrosis
- Degenerative disease
- Kidney or urinary tract disease
- Slow growth or short stature
- Thalassemia
- Other chronic diseases
Developmental Problems
- Autism Spectrum Disorder (ASD)
- Attention-Deficit/Hyperactivity Disorder
- Developmental delays
- Failure to thrive
- Intellectual Disability
- Learning Disability
- Low muscle tone
- Regression
- Slow growth or short stature
- Speech problems
Sensory Deficits
- Blindness
- Extreme farsightedness
- Extreme nearsightedness
- Hearing loss
|
Unusual Physical Features
Ears
- Ear pits or tags
- Unusually shaped ears
Eyes
- Different colored eyes
- Down slanting eyes
- Epicanthal folds
- Up-slanting eyes
- Wide-spaced eyes
Face
Hair
- Brittle or sparse hair
- Excessive body hair
- White patch of hair
- Unusually low hairline on
forehead or at nape of neck
Mouth
- High-arched palate
- Large or small tongue
- Misshapen teeth
- Missing or extra teeth
- Smooth philtrum
- Thin upper lip
Skeletal
- Loose joints
- Unusually tall or short stature
- Webbing between fingers or toes
Skin
- Excessive skin
- Increased or decreased sweating
- Many birthmarks
- Any other unusual features
|
When Does An Adult Need Genetic Services?
Any of the following could indicate a need for genetic services. Please contact your local genetic service provider for more information about referrals or call 1-800-252-8023 for referral to a genetic service provider.
|
Possible Indications An Adult May Need Genetic Services
|
|
Ethnic Background
- African American
- Ashkenazi Jews
- East Indian
- French Canadian
- Asian, Greek, or Italian
Medical History
- Birth defects
- Blindness
- Diabetes
- Cancer
- Carrier status for inherited disorders
- Degenerative diseases
- Hearing loss
- Intellectual disability
- Mental illness
- Other genetic disease
Reproductive History
- Advanced paternal age (40 or older)
- Advanced maternal age (35 or older)
- Two or more miscarriages
- Stillbirths
- Previous children with birth defects
- Previous children with learning delays
- Unexplained infertility
- Pregnancy complicated by medical problems
such as asthma, lupus, diabetes, and seizures
Pregnancy Exposures and Teratogens*:
- Alcohol
- Cat litter and cat feces
- Chemicals
- High fever
- Infection
- Prescription and other medications
- Smoking
- Recreational drugs
|
Family History
- Acute Intermittent Porphyria
- Autoimmune diseases
- Alzheimer’s Disease
- Birth defects
- Blindness
- Cancer, especially breast or colon
- Cleft lip or palate
- Congenital heart disease
- Cystic Fibrosis
- Deafness
- Degenerative Disease
- Down Syndrome
- Dwarfism
- Early onset (under 35) cancer
- Early onset (under 35) emphysema
- Early onset (under 35) heart disease
- Fragile X syndrome
- Galactosemia
- Hemophilia or bleeding disorder
- Huntington’s Disease
- Hydrocephalus
- Infant or childhood death
- Intellectual Disability
- Muscular Dystrophy
- Phenylketonuria
- Polycystic Kidney Disease
- Sickle Cell Trait
- Spina Bifida
- Tay-Sachs carrier
- Thalassemia Trait
- Other genetic disease
|
|
*Call the free Teratogen Hotline (1-855-884-7248) for more information regarding exposures during current or post pregnancies.
Texas TIPS (Texas Teratogen Information on Pregnancy Services), an affiliate of MotherToBaby, is a free confidential counseling and information resource that provides information about exposures related to pregnancy and breastfeeding.
|