Carrier Screening Counseling Note (Preconception/Reproductive)

Date/Time: [Encounter date and time]

Location: [Clinic location]

Visit Type: [in-person / telehealth]

Clinician: [Name, credentials]

Others Present: [Partner, family, or support person; name/initials and relationship] (Include only if others were present; omit line if none.)

Interpreter: [Language and interpreter ID] (Include only if interpreter was used; omit line if not.)

Reason for Visit

[Single-sentence purpose beginning with patient's stated goal]

Reproductive Context

• Pregnancy status: [not pregnant / pregnant with gestational age and EDD / postpartum] (If unknown or not assessed, document why.)
• Relationship and partner availability: [Reproductive partner status and availability for testing]
• Conception context: [spontaneous conception planned / ART-IVF / donor gametes or embryos] (If donor, note whether donor screening results are available.)

Pertinent History

(Include only clinically relevant items affecting screening choice or interpretation.)

• Relevant medical history: [Known genetic diagnoses, congenital anomalies, hearing/vision loss, neuromuscular conditions, transfusion or transplant history]
• Obstetric history: [Prior losses, children with genetic conditions] (Include only if relevant.)
• Prior genetic testing: [Panel name, laboratory, year, and results if known] (If uncertain, document plan to obtain records.)

Family History & Ancestry

• Family history highlights: [Genetic disorders, birth defects, developmental delay or intellectual disability, recurrent pregnancy loss or infant deaths, hearing/vision loss, conditions on carrier panels]
• Self-reported ancestry: [Patient ancestry] | [Partner ancestry] (Note mixed ancestry where applicable.)
• Consanguinity: [present / suspected / denied]
• Limitations: [Adoption, donor conception, estrangement, unknown paternity, limited information and impact on residual risk] (Include only if applicable.)
• Pedigree: [Formal pedigree obtained and storage location / not obtained]

Indication & Screening Strategy

• Indication: [routine preconception or prenatal risk assessment / positive family history (condition and relative) / known carrier status in patient or partner / ancestry-associated risk / consanguinity]
• Approach discussed: [condition-specific targeted screening / pan-ethnic expanded carrier screening panel]
• Selected strategy: [Selected test or panel and rationale]
• Partner testing strategy: [sequential (partner tested only if patient positive) / simultaneous] (Include rationale.)

Pre-test Counseling Provided

(Include only concepts actually discussed in this encounter.)

• [Purpose and scope: carrier screening identifies asymptomatic carriers; does not diagnose patient; does not replace prenatal diagnostic testing]
• [Couple-based risk: autosomal recessive 25% affected risk when both partners are carriers; X-linked patterns if applicable]
• [Possible results: carrier/positive, screen negative, uncertain findings if applicable to panel]
• [Residual risk: detection rates vary by condition, methodology, and ancestry; negative results reduce but do not eliminate risk]
• [Documentation and family implications: results become part of medical record; relevance to relatives]
• [Patient questions and understanding: questions asked, evidence of understanding such as teach-back]
• [Shared decision-making: patient values and preferences discussed; opportunity to decline confirmed]

Reproductive Options Discussed

(Include this section only when at-risk couple is confirmed or strongly suspected. Note if risk is confirmed or pending partner results.)

• [Proceed with conception with prenatal diagnostic testing via CVS or amniocentesis]
• [IVF with PGT-M]
• [Use of screened donor gametes or embryos]
• [Adoption]
• [Choosing not to pursue pregnancy]
• [Availability considerations if relevant]

Plan

• Patient testing: [Test or panel name], [Laboratory], [Specimen type], [Collection status: collected today / to be collected / mailed kit] (Note if targeted testing for known familial variant.)
• Partner testing: [Simultaneous testing ordered with rationale / Sequential testing if patient positive / Partner unavailable with limitations documented]
• Consent to share results between partners: [yes / no / not applicable] (Include per local policy.)
• Ancillary orders: [Hemoglobin evaluation, additional targeted tests, or other orders with indications] (Include only if applicable.)
• Referrals: [Genetics, reproductive endocrinology, MFM, or other with reason] (Include only if applicable.)
• Education provided: [Handout or resource name]
• Follow-up: [Next contact timing and purpose]

Results Communication Plan

• Turnaround time: [Estimated TAT]
• Delivery method: [phone / portal message / scheduled visit / letter]
• Communication assurance: Results will be communicated regardless of positive or negative status.
• If positive: [Partner testing coordination and follow-up counseling plan]

Results Reviewed Today

(Include this section only if results are disclosed at this visit; omit entirely if none reviewed.)

• Test and laboratory: [Test or panel name], [Laboratory]
• Result date: [Date]

Plain-language summary: [Accessible summary of findings and implications]

Technical details: [Variant, zygosity, gene, associated condition, classification]

Couple-based risk update: [Revised risk assessment incorporating partner status if available]

Next steps: [Confirmatory testing, partner testing, prenatal diagnostic options, referrals, additional counseling]