• The California Prenatal Screening Program (Main page)
• CalGenetic Portal
• Midtrimester Risk for Chromosome Abnormalities By Maternal Age at Term
• California Prenatal Screening Program Provider Handbook (PDF)
•      MIRROR

• American College of Medical Genetics and Genomics
• ACMG Standards and Guidelines for fragile X testing
• NSGC Practice Guidelines
• NIPT Summary of Recommendations (ACOG)
  

• Alphabetic List of Genetic Analysis Software
• Carrier Frequency Calculator
• Face2Gene
       Phenotyping apps that facilitate comprehensive and precise genetic evaluations.
• GeneFAX  Automated, remote patient triaging for various testing and treatment protocols based on established guidelines such as NCCN, AMCG, ACOG, and many others
• Gestational Age Calculator
• Virtual Genetic Information Assistant (Gia®) Designed in partnership with genetic counselors to help streamline communication between patients and clinicians (Invitae)
  

Reference

• Online Mendelian Inheritance in Man (OMIM)
       Comprehensive, authoritative compendium of human genes and genetic phenotypes
• GeneReviews®
       Provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
• REPROTOX
       Summaries on the effects of medications, chemicals, infections, and physical agents on pregnancy, reproduction, and development.
• Fetal alcohol spectrum disorders: Genetic and epigenetic mechanisms(Prenatal Diagnosis)
• Medical Genetics Practice Resources (ACMG)

Testing (Labs)

• The Genetic Testing Registry (GTR®)
       Provides a central location for voluntary submission of genetic test information by providers
• LabCorp
• Whole Exome Sequencing – Proband Only
• Chromosome-analysis-amniotic-fluid-with-reflex-to-snp-microarray-reveal
• Noonan syndrome
• Cytomegalovirus PCR Amniotic fluid
• ARUP Laboratories
  Associated Regional and University Pathologists, Inc. is a Salt Lake City, Utah-based nonprofit laboratory at University of Utah's Department of Pathology.
  • ARUP Consult website at arupconsult.com.
  • Testing for Genetic Syndromes Related to Developmental Delay (DD), Intellectual Disability (ID), and Autism Spectrum Disorder (ASD)
• GeneDx
  • Prenatal Skeletal Dysplasia Panel
  • Prenatal Smith-Lemli-Opitz Syndrome
  • Prenatal Tuberous Sclerosis Panel
  • Prenatal 46, XY DSD Panel  (ambiguous genitalia)
  • Prenatal CHD7 Gene Sequencing (CHARGE Syndrome)
  • All Prenatal Panels
    
• Knight Diagnostic Laboratories
  • Disorders of sex development (DSD)Panel. Congenital conditions in which chromosomal, gonadal, and phenotypic sex are discordant.
• Prevetion Genetics
  • Ambiguous Genitalia Panel
  • Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel

Miscellaneous

• ACMG Medical Genetics Practice Resources Handbook of Genetic Counseling
• Managing fetal sex discordance in cfDNA
• Nature Reviews Genetics
• Orphanet Journal of Rare Diseases
• Pedigree blank