Pediatric Genetics Evaluation Note (Congenital Anomalies, DD/ID)

Patient: [Name, DOB, MRN]

Date of Visit: [Date]

Visit Type: [New patient genetics evaluation / Follow-up genetics evaluation]

Referring Provider: [Name, specialty, institution]

Reason for Referral: [Brief phrase summarizing referral indication(s)]

Historian(s): [Names and relationships; interpreter use and language if applicable]

Records Reviewed: [External notes, imaging, prior genetic reports, school/therapy evaluations with dates]

Chief Concern

[Reason for evaluation] (One to three sentences stating why the patient is being evaluated now. Include referral indication(s) and family's stated goals when provided: diagnosis, prognosis, recurrence risk, management guidance.)

History of Present Illness

[Time-ordered phenotype narrative] (Synthesize caregiver report, record review, and clinician observation, clearly distinguishing each source. Include onset and trajectory: congenital vs acquired, stable delay vs progressive, presence/absence of regression with timing. Detail developmental concerns prompting referral and current functional impact. Summarize key congenital anomalies with organ system involvement and severity. Include neurologic features: seizures, tone, movement disorder, head size abnormalities. Note growth pattern abnormalities and relevant behavioral/neuropsychiatric features. Include pertinent positives and negatives that help discriminate among leading syndromic considerations. Document unknown for critical missing elements.)

Prenatal and Birth History

(Document unknown explicitly for high-impact missing elements. If no prenatal care, state this.)

• Pregnancy: [G/P; prior losses or complications; maternal and paternal ages at conception; maternal conditions; infections/fever; medication and substance exposures; prenatal screening/testing results; prenatal imaging findings; fetal movement concerns]
• Birth: [Gestational age; delivery mode and complications; birth measurements with percentiles; Apgar scores; newborn screens (hearing, metabolic); NICU course; early feeding/respiratory issues]

Past Medical and Surgical History

(Organize by organ system or as a chronological problem list.)

• [Major diagnoses and chronic conditions by system: cardiac, renal, GI, endocrine, vision, hearing, pulmonary, orthopedic, dermatologic, hematologic, immunologic]
• [Hospitalizations with indications and approximate dates]
• [Surgeries/procedures with outcomes and approximate dates]
• [Growth/nutrition concerns: feeding therapy, dysphagia, G-tube, special diets]

Developmental History

(Document milestone ages or caregiver unsure; indicate regression with domain, age of onset, precipitants, and recovery.)

• Milestones: [Gross motor; fine motor; speech/language (expressive and receptive); social/adaptive] (Include ages achieved.)
• Current Function: [Communication mode; AAC use; toileting; feeding independence; mobility; safety awareness]
• Regression: [Domain(s) affected, age at onset, course, potential triggers, degree of recovery] (If none, state none.)
• Formal Testing: [Psychoeducational/cognitive, speech/language, OT/PT evaluations with test names, standard scores, and dates] (Only include if available.)
• School/Services: [Early intervention/IEP/504 status; therapies (PT/OT/SLP/ABA) with frequency; assistive devices or AAC]
• Behavioral Profile: [Attention, stereotypies, self-injury, anxiety, mood, sleep] (Include only if relevant.)

Family History

(Document who provided the history and whether records confirm it. If limited due to adoption/foster care/donor conception, state limitation prominently. Avoid stating negative family history unless key categories were explicitly assessed.)

• [Three-generation pedigree summary including: DD/ID, autism, learning disorders, congenital anomalies, dysmorphism, known genetic syndromes, seizures, psychiatric conditions, cardiomyopathy/arrhythmia, early sudden death, multiple miscarriages, stillbirths, neonatal/infant deaths]
• [Known genetic test results in relatives and availability of reports]
• [Consanguinity: yes / no / unknown]
• [Ancestry: geographic/ethnic background]
• [Adoption or donor conception status] (Include only if disclosed.)

Social History

[Household composition; custody/guardianship; school placement and therapy access; relevant psychosocial factors affecting follow-up; adolescent privacy considerations for results disclosure] (Include only information relevant to care.)

Medications and Allergies

Current Medications: [Medication name, dose, route, frequency, indication]

Allergies: [Allergen and reaction type] (If none, state none known.)

Relevant Supplements: [Medical foods or supplements pertinent to suspected metabolic conditions] (Include only if relevant.)

Physical Examination

Vitals/Growth: [Height/length, weight, head circumference with percentiles or z-scores; comparison to prior measurements with trajectory]

General: [Appearance, cooperation, tone, activity level]

Dysmorphology Examination: (Use standardized morphology terminology; provide qualifiers or measurements where applicable; document elements not assessed and why.)

• Head/Scalp: [Head shape, scalp findings]
• Hair/Eyebrows: [Hair pattern/texture, eyebrows]
• Eyes: [Palpebral fissure length, spacing, position, additional findings]
• Ears: [Size, rotation, position, shape]
• Nose/Philtrum/Mouth/Palate/Teeth: [Nasal bridge/tip, philtrum, vermilion, palate, dentition]
• Neck: [Length, webbing, masses]
• Chest/Cardiac: [Chest shape, nipple spacing, cardiac auscultation findings]
• Abdomen: [Hepatosplenomegaly, hernias, abdominal wall findings]
• Spine: [Alignment, sacral area]
• Extremities/Hands/Feet/Joints: [Digit number/position, creases, nail findings, limb proportions, joint mobility]
• Skin: [Pigmentary lesions, vascular lesions, texture, scarring]
• Neurologic: [Tone, strength, reflexes, coordination, gait]
• Anthropometric Measurements: [Inner/outer canthal distance, palpebral fissure length, ear length, hand/foot length with units and reference standards] (Include only if clinically indicated.)

Prior Genetic Testing and Imaging

(Summarize results concisely; note whether original reports were reviewed.)

• Genetic Testing: [Test name, laboratory, date, specimen type, result summary, report reviewed: yes / no] (Address CMA, fragile X, gene panels, exome/genome sequencing, karyotype, methylation studies as applicable.)
• Imaging: [Brain MRI/CT with key findings and date; echocardiogram/ECG; renal ultrasound; skeletal survey] (Include only relevant studies.)
• Metabolic Testing: [Ammonia, lactate, plasma amino acids, urine organic acids, acylcarnitine profile, CK] (Include dates and notable abnormalities.)

Assessment

[Summary statement synthesizing age, key congenital anomalies, developmental phenotype, and significant exam findings]

[Etiologic framework discussing likelihood of chromosomal/CNV, monogenic, imprinting, repeat expansion, metabolic/mitochondrial, teratogenic, or multifactorial causes as appropriate]

Differential Diagnosis: [Top syndromic considerations with 2–3 supporting features for each] (Include only if it informs testing strategy.)

Problem List:

• [DD/ID phenotype and severity]
• [Major congenital anomalies]
• [Growth or head size abnormalities]
• [Seizures, ASD, or behavioral concerns]
• [Urgent medical issues requiring attention]

Genetic Testing Plan

Recommended Testing:

• [Test name] — [Trio / Duo / Proband-only]; [Specimen type(s) and who will be sampled]; [Clinical question addressed]

Rationale: (Provide structured justification supporting medical necessity.)

• Chromosomal Microarray: [Why CNV detection is relevant to this phenotype; expected diagnostic yield; limitations: cannot detect balanced rearrangements, most low-level mosaicism, or sequence variants] (Include only if CMA recommended.)
• Exome or Genome Sequencing: [Why monogenic etiology is plausible; why broad sequencing preferred over panels; why trio analysis improves interpretability; key limitations] (Include only if ES/GS recommended.)
• Targeted Gene Panel: [Why phenotype justifies targeted approach; advantages; limitations] (Include only if panel recommended.)

Pre-Test Counseling Documented:

• [Result categories: positive/diagnostic, negative, variant of uncertain significance]
• [Possibility of unexpected information, including relationship discordance with trio testing]
• [Secondary findings options per current professional guidelines]
• [Test limitations: variant types not detected, coverage gaps, mosaicism considerations]
• [Potential for future reclassification and reanalysis]

Secondary Findings: [Offered: yes / no] — [Family decision: opt in / opt out]

Results Return Plan: [Communication method and expected turnaround time]

• If diagnostic: [Syndrome-specific management; familial testing; recurrence counseling]
• If VUS: [Segregation testing; periodic reanalysis; phenotype updates to laboratory]
• If negative: [Reanalysis timeline; broader/alternative testing; evaluation for non-genetic etiologies]

Additional Recommendations

• [Specialty referrals prompted by phenotype: cardiology, neurology, ophthalmology, audiology, nephrology, orthopedics, developmental pediatrics]
• [Developmental supports: early intervention optimization, therapy recommendations, AAC evaluation]
• [Safety guidance] (Include only if clinically indicated.)