Resource Center: genetics

Newborn screening for congenital hypothyroidism: recommended guidelines

Newborn screening fact sheets

NINDS Autism Information Page

Newborn Screening Tests from March of Dimes

Chromosome Abnormalities informational page from NHGRI

Maternal serum screening has been modified during the past 25 years and is now widely utilized during the second trimester to identify women at risk for fetal open neural tube defects (ONTDs), anencephaly, and trisomies 21 and 18. This statement replaces the 1994 and 1996 ACMG position statements on serum screening and discusses clinical guidelines for screening that complement the sections of ACMG’s Standards and Guidelines for Clinical Genetics Laboratories entitled “Prenatal Screening for Open Neural Tube Defects” and “Prenatal Screening for Down Syndrome” (http://www.acmg.net). (From Their Website)

The National Center on Birth Defects and Developmental Disabilities (NCBDDD) promotes the health of babies, children, and adults, and enhances the potential for full, productive living. Their work includes identifying the causes of and preventing birth defects and developmental disabilities, helping children to develop and reach their full potential, and promoting health and well-being among people of all ages with disabilities. (From Their Website)

Everything from general knowledge to medical trials

Points to Consider in Preventing Unfair Discrimination Based on Genetic Disease Risk: A Position Statement of the American College of Medical Genetics

Recommendations for Standards for Interpretation of Sequence Variations