Reasons for Referral to Genetics

Reasons for Referral to Genetics

Prenatal or preconceptional patient who is or will be:
* Age 35 years or older at the time of delivery (for a singleton pregnancy)
* Age 33 years or older at the time of delivery (for a twin pregnancy)
* A close blood relative of her partner (consanguineous union)

Prenatal or preconceptional patient who has:
* An abnormal first or second trimester maternal serum nuchal translucency screening test
* Exposure to a teratogen or potentially teratogenic agent during gestation such as radiation, high-risk infections (cytomegalovirus, toxoplasmosis, rubella), drugs, medications, alcohol, etc.
* A fetal anomaly or multiple anomalies identified on ultrasound and/or through echocardiography
* A personal or family history of pregnancy complications known to be associated with genetic factors such as acute fatty liver of pregnancy

Either member of the couple with:
* A positive carrier screening test for a genetic condition such as cystic fibrosis, thalassemia, sickle cell anemia, Tay-Sachs, etc.
* A personal history of stillbirths, previous child with hydrops, recurrent pregnancy losses (more than two), or a child with sudden infant death syndrome (SIDS)
* A progressive neurologic condition known to be genetically determined such as a peripheral neuropathy, unexplained myopathy, progressive ataxia, early onset dementia, or a familial movement disorder
* A statin-induced myopathy

Either member of the couple with a family or personal history of:
* A birth defect such as a cleft lip palate, spina bifida, or a congenital heart defect
* A chromosomal abnormality such as a translocation, marker chromosome, or chromosomal mosaicism
* Significant hearing or vision loss thought to be genetically determined
* Mental retardation or autism

Genetic consultation may be helpful under the following circumstances for adult patients with a personal history of:
* Abnormal sexual maturation or delayed puberty
* Recurrent pregnancy losses (RPLs) (more than 2)

Cystic Fibrosis
Ashkenazi Jewish Screening
Fragile X Syndrome
Factor V Leiden

There is growing consensus that testing should be performed in at least the following circumstances (these are the same general recommendations for testing for any thrombophilia):
* Venous thrombosis in pregnant women or women taking oral contraceptives.

Testing may also be considered in the following situations:
* Relatives of individuals known to have factor V Leiden. Knowledge that they have factor V Leiden may influence management of pregnancy and may be a factor in decision-making regarding oral contraceptive use.
* Women with recurrent pregnancy loss or unexplained severe preeclampsia, placental abruption, intrauterine fetal growth retardation, or stillbirth. Knowledge of factor V Leiden carrier status may influence management of future pregnancies.

Reasons for Referral to Genetics.ppt