Referral indications

Question 1

Prenatal/preconception genetics

Answer 1

Personal history:
-Maternal age of 35+ for a singleton pregnancy
-Maternal age of 33+ for a twin pregnancy
-Consanguinity
-Abnormal FTS or STS with or w/o NT measure
-Teratogen exposure (CMV, radiation, medication, etc)
-fetal anomaly id’d through U/S or echo
-Personal/family history of pregnancy complications (acute fatty liver of pregnancy)
-Carrier of an autosomal recessive condition
-History of hydrops, still birth, 2+ pregnancy losses, or SIDS
-Progressive neurological condition with a known genetic etiology
-statin induced myopathy
Personal (either member of the couple) or family history:
-spina bifida, cleft lip/palate or CHD
-known balanced translocation carrier, marker chromosome, or mosaic cell line carrier
-Hearing/vision loss
-Personal or family history of intellectual disability or developmental delay

Question 2

Adult genetics

Answer 2

Personal history of:
-abnormal sexual maturation or delayed puberty
-tall or short stature
-one or more birth defects
-six or more cafe-au-lait spots >1.5 cm in diameter
-statin induced myopathy
Personal or family history of:
- cancers (see NCCN guidelines)
-Cardiomyopathy, Long QT syndrome, hyperlipidemia
- suspected CTD
-Bleeding or clotting disorder
-progressive genetic neurological deterioration disorder
-vision loss such as retinitis pigmentosa, cataracts or macular degeneration
-early onset hearing loss
-known genetic disorder
-mental illness
Close relative with:
-sudden unexplained death at a young age

Question 3

Pediatric referrals

Answer 3

need info