Genetic Counselor's Toolbox
Curated prenatal genetics resources for genetic counselors, maternal-fetal medicine specialists, obstetricians, and other clinicians.
Professional-use reminder: This page is a reference collection, not a substitute for current laboratory specifications, professional guidelines, institutional policy, or clinical judgment. Please review the Perinatology.com Disclaimer and Privacy Policy.
California Prenatal Screening Program
Current Guidelines & Practice Resources
- ACOG: Screening for Fetal Chromosomal Abnormalities - Practice Advisory JAN 2026
- SMFM Consult Series #74: Cell-free DNA screening for aneuploidies 2025
- SMFM Consult Series #41: Chromosomal microarray for prenatal diagnosis REAFFIRMED 2024
- ISPD Updated Position Statement: Genome-wide sequencing for prenatal diagnosis SMFM ENDORSED
- ACMG Medical Genetics Practice Resources
- ACMG Technical Standard: Laboratory testing for Fragile X, 2021 revision
- ACMG Practice Resource: Carrier screening for autosomal-recessive and X-linked conditions
- NSGC Practice Guidelines & Practice Resources
- ACOG Genetic Screening & Testing Topic Page
Perinatology.com Calculators & Teaching Tools
- Hardy-Weinberg Carrier Frequency Calculator
- Known Maternal Carrier - Offspring Risk Calculator
- Maternal Age at Expected Date of Delivery
- Midtrimester Risk for Chromosome Abnormalities
- Risk for Chromosome Abnormalities at Term
- NIPT / cfDNA Teaching Module BETA
- Prenatal Diagnostic Genetic Testing - Quick Reference
- Pedigree Generator
Genetics Databases & Clinical Reference
Software & Clinical Utilities
Testing & Laboratory Resources
- NIH Genetic Testing Registry (GTR) - search tests and laboratories
- Labcorp / Integrated Genetics
- GeneDx
- ARUP Laboratories
- PreventionGenetics
Additional Professional Resources
- American College of Medical Genetics and Genomics (ACMG)
- National Society of Genetic Counselors (NSGC)
- American College of Obstetricians and Gynecologists - Genetics
- Society for Maternal-Fetal Medicine Publications & Clinical Guidelines
- Orphanet Journal of Rare Diseases
- Handbook of Genetic Counseling (Wikibooks)
- Blank Pedigree Form
Selected Current References
- American College of Obstetricians and Gynecologists. Screening for Fetal Chromosomal Abnormalities. Practice Advisory. January 2026.
- Rink BD, Dugoff L, Kuller JA, et al. Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance. 2025. ACOG endorsed.
- Dugoff L, Norton ME, Kuller JA. Society for Maternal-Fetal Medicine Consult Series #41: The use of chromosomal microarray for prenatal diagnosis. Reaffirmed 2024.
- Van den Veyver IB, Chandler N, Wilkins-Haug LE, Wapner RJ, Chitty LS; ISPD Board of Directors. Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. 2022. Endorsed by SMFM.
- Spector E, Behlmann A, Kronquist K, et al. Laboratory testing for fragile X, 2021 revision: a technical standard of the ACMG. Genet Med. 2021;23:799-812. doi:10.1038/s41436-021-01115-y.
- Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: an ACMG practice resource. Genet Med. 2021;23:1793-1806. doi:10.1038/s41436-021-01203-z.
External links were reviewed August 24, 2026. Because professional society and laboratory URLs change,
authoritative landing pages are used instead of fragile deep links whenever practical.