Prenatal Genetics Consultation Note

Date/Time: [Date and time of encounter]
Encounter Type: [in-person / telehealth]
Clinic/Service: [Clinic or service name]
Consultant: [Name, credentials, role]
Referring Clinician: [Name, credentials]
Participants: [Patient; partner or support person if present; interpreter and language if used]

(Use objective, nondirective language throughout. For critical fields—gestational age, EDD, dating method, indication, decisions, and plan—write "Unknown," "Not available," or "Pending" rather than leaving blank. Label information sources as "Per patient report," "Per outside records dated [date]," or "Reviewed report from [lab] dated [date].")

Pregnancy Snapshot

• Gravida/Para: [G__ P__ with SAB/TAB/Ectopic as applicable]
• Gestational age today: [__ weeks __ days / Unknown]
• Estimated Due Date: [EDD] Dating basis: [LMP / ultrasound dated __ / IVF transfer dated __] (If dating uncertain, specify what is known and what is needed, e.g., "Dating ultrasound pending.")
• Fetal number: [Singleton / Multiple—specify chorionicity/amnionicity if known]
• Conception method: [Spontaneous / IVF / ICSI / Donor oocyte / Donor sperm / Gestational carrier / Not applicable]
• Key pregnancy complications to date: [None reported / List complications] (Include hypertension, diabetes, bleeding, infections, or medication exposures if applicable.)

Reason for Consultation

[One-sentence consult question summarizing why patient was referred]

Indications: [Screening decision-making / Abnormal screening result (specify test and finding) / Ultrasound finding (specify) / Family history or known familial variant (specify) / Carrier screening concern (specify) / Prior pregnancy or child with genetic condition (specify) / Other (specify)]

History

[HPI narrative beginning with indication and current gestational age, including presenting context, patient's main questions, and relevant symptoms]

Timeline of key events: (Include when multiple results or time-sensitive decisions are involved.)

• [Date] — [Event/test/imaging] — [Result or context]

Obstetric history: [Prior pregnancies with outcomes; prior affected pregnancies or children; ART details if relevant] (If comprehensive OB history documented elsewhere and noncontributory, state briefly.)

Pertinent medical history: [Conditions affecting testing or counseling; current medications; notable exposures] (Include only if relevant to today's consult.)

Family History

[Scope of pedigree obtained, e.g., three-generation pedigree] Stored: [Attached image / Family history module / Other]

• Affected relatives: [Relationship; diagnosis; age at diagnosis; current age or age at death; genetic testing performed and results] (Add entries for each relevant relative, or state "None reported.")
• Consanguinity: [Yes (specify degree) / No / Unknown]
• Summary: [Family history noncontributory / Pertinent findings as above]

Prior Screening and Diagnostic Results

(Distinguish screening from diagnostic testing. Do not imply review of primary reports unless actually reviewed.)

• [Test name, lab]: [Date] at [GA]; Specimen: [Maternal blood / CVS / Amniocentesis]; Result: [High risk / Low risk / No-call / Positive / Negative / VUS] — [Brief interpretation with risk estimate or variant details]; Source: [Reviewed report / Per patient report / Per outside records dated __]; Follow-up: [None indicated / Confirmatory testing recommended / Pending]
• (Add additional tests as needed following the same structure.)

Pending results: [Test, lab] — Expected [timeframe] — [Follow-up and communication plan]

(For cfDNA no-call or low fetal fraction: document exact lab message and counseling on next steps.)

Ultrasound Findings

(Include only when imaging prompted referral or is relevant to counseling. Omit section entirely if not applicable.)

• [Date, GA] — [Key findings with anatomic location and severity] — [Isolated / Not isolated] (Label as "isolated" only if report supports absence of other anomalies.)

Assessment

(Provide problem-oriented genetic risk summary ordered by clinical urgency. Clearly separate facts from interpretation.)

• Problem 1: [Problem name]
  • Known facts: [Observed results and findings with sources]
  • Risk interpretation: [Quantified or qualitative risk assessment]
  • Residual risk: [What negative results do and do not exclude]
  • Differential diagnosis: [Key etiologies considered, if applicable]
• Problem 2: [Problem name] (Add problems as needed.)

Counseling and Shared Decision-Making

Patient Goals/Values: [Brief summary of priorities and concerns; include direct quotes when helpful]

Options Reviewed:

• Screening: [cfDNA (conditions covered, limitations); serum screening with/without NT; sex chromosome aneuploidy and microdeletion panels noted as opt-in]
• Diagnostic testing: [CVS vs amniocentesis with timing windows and what each obtains; procedure-related miscarriage risk discussed with quantified estimate used; patient had opportunity for questions]
• Testing on invasive samples: [Karyotype / Chromosomal microarray / Targeted testing for familial variant; discussion of VUS and incidental findings]
• Carrier screening: [Panels offered; prior results reviewed; partner testing plan]
• For fetal anomalies: [Chromosomal microarray recommendation; prenatal exome/genome discussion if applicable, including diagnostic yield uncertainty, VUS, and incidental findings] (Include only if relevant to indication.)

Timing and Logistics: [GA windows for each option; typical turnaround times; scheduling considerations]

Risks and Limitations: [False positives/negatives; VUS possibility; placental mosaicism; detection limitations]

Patient Understanding: [How understanding was assessed—teach-back, patient restatement, questions addressed]

(Document that testing is optional and that confirmatory diagnostic testing is recommended after high-risk screening results.)

Decision

• Accepted: [Test/procedure; timing; specimen; lab; what is being tested] (For invasive procedures, document consent obtained including discussion of possible uncertain results.)
• Declined: [Tests/procedures declined after counseling; patient's rationale if provided]
• Deferred: [Decisions deferred; information needed; follow-up timing and method]

Plan

(Actionable, problem-based items mirroring Assessment order.)

• Orders placed: [Tests/procedures with labs and requisitions]
• Scheduling: [Procedure timing; next ultrasound; follow-up appointments]
• Result management: [Expected turnaround; who contacts patient; disclosure method; urgent result plan]
• Contingencies: [If screen positive; if diagnostic abnormal; if VUS; postnatal confirmatory testing if applicable]
• Coordination with OB/MFM: [Note sent to referring clinician; actions for OB/MFM team; shared care plan]