Table 5. [Recommended Evaluations Following Initial Diagnosis in Individuals with Fanconi Anemia]. - GeneReviews®

System/Concern	Evaluation	Comment
Growth	Growth assessment; exam by endocrinologist	Additional studies (growth hormone levels, bone age radiographs) as recommended by endocrinologist
Musculoskeletal	Clinical assessment for limb anomalies, hip dislocation, neck/spine anomalies & scoliosis	Referral to orthopedic surgeon as indicated
Eyes	Exam by ophthalmologist
Genitourinary	Ultrasound exam of kidneys & urinary tract	Referral to nephrologist, gynecologist &/or urologist as indicated
Endocrine	Exam by endocrinologist; thyroid function tests; brain MRI for pituitary abnormalities	Additional studies (glucose tolerance testing, lipids, pituitary & gonadal function testing) as recommended by endocrinologist
Hearing	Formal hearing eval	Referral to otolaryngologist as indicated
Cardiac/ Vascular	Echocardiogram; brain MRI & angiography for moya moya syndrome	Referral to cardiologist as indicated
Gastrointestinal	Urgent eval w/gastroenterologist & surgery for those w/obstructive GI malformations (e.g., esophageal atresia, duodenal atresia, or imperforate or bifurcated anus) &/or tracheoesophageal fistula, intestinal malrotation, or annular pancreas Nutrition/feeding eval as needed	Referral to gastroenterologist, dietician, & surgeon as indicated
Development	Developmental assessment (esp important for toddlers & school-age children)	Referral to neuropsychologist or developmental/behavioral pediatrician as indicated
Hematology/ Oncology	Eval by hematologist incl complete blood count, fetal hemoglobin, full blood typing, blood chemistries (assessing liver, kidney, & iron status), & bone marrow aspirate for cell morphology, FISH & cytogenetics, & biopsy for cellularity	The bone marrow of those w/FA can exhibit signs of dysplasia, e.g., nuclear/cytoplasmic dys-synchrony, hypo-lobulated megakaryocytes, & bi-nucleated erythroid cells. These features must be distinguished from true forms of MDS by a hematopathologist experienced in eval of MDS in those w/FA.
HLA typing of the affected person, sibs, & parents for consideration of hematopoietic stem cell transplantation
Genetic counseling	By genetics professionals ¹	To inform affected persons & families re nature, MOI, & implications of FA to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Growth

Growth assessment; exam by endocrinologist

Additional studies (growth hormone levels, bone age radiographs) as recommended by endocrinologist

Musculoskeletal

Clinical assessment for limb anomalies, hip dislocation, neck/spine anomalies & scoliosis

Referral to orthopedic surgeon as indicated

Eyes

Exam by ophthalmologist

Genitourinary

Ultrasound exam of kidneys & urinary tract

Referral to nephrologist, gynecologist &/or urologist as indicated

Endocrine

Exam by endocrinologist; thyroid function tests; brain MRI for pituitary abnormalities

Additional studies (glucose tolerance testing, lipids, pituitary & gonadal function testing) as recommended by endocrinologist

Hearing

Formal hearing eval

Referral to otolaryngologist as indicated

Cardiac/
Vascular

Echocardiogram; brain MRI & angiography for moya moya syndrome

Referral to cardiologist as indicated

Gastrointestinal

Urgent eval w/gastroenterologist & surgery for those w/obstructive GI malformations (e.g., esophageal atresia, duodenal atresia, or imperforate or bifurcated anus) &/or tracheoesophageal fistula, intestinal malrotation, or annular pancreas
Nutrition/feeding eval as needed

Referral to gastroenterologist, dietician, & surgeon as indicated

Development

Developmental assessment (esp important for toddlers & school-age children)

Referral to neuropsychologist or developmental/behavioral pediatrician as indicated

Hematology/
Oncology

Eval by hematologist incl complete blood count, fetal hemoglobin, full blood typing, blood chemistries (assessing liver, kidney, & iron status), & bone marrow aspirate for cell morphology, FISH & cytogenetics, & biopsy for cellularity

The bone marrow of those w/FA can exhibit signs of dysplasia, e.g., nuclear/cytoplasmic dys-synchrony, hypo-lobulated megakaryocytes, & bi-nucleated erythroid cells. These features must be distinguished from true forms of MDS by a hematopathologist experienced in eval of MDS in those w/FA.

HLA typing of the affected person, sibs, & parents for consideration of hematopoietic stem cell transplantation

Genetic
counseling

By genetics professionals ¹

To inform affected persons & families re nature, MOI, & implications of FA to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: Fanconi Anemia

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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