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Trisomy 18 Score

Purpose: To evaluate a child for Trisomy 18 using the clinical score of Marion et al.

Evaluation

Are you evaluating an infant for clinical features of Trisomy 18?

Gender of the patient

Does the child show?

• intrauterine growth retardation?

• a single umbilical artery?

• prominent occiput with narrow bifrontal region?

• microcephaly?

• hypoplastic supraorbital ridges?

• short palpebral fissures?

• epicanthal folds?

• corneal opacification?

• coloboma of the iris?

• low-set, malformed auricles?

• choanal atresia?

• small oral opening?

• micrognathia?

• narrow palatal arch?

• cleft lip and/or palate?

• hand clenched with overlapping of index finger over the third finger, and fifth finger over fourth?

• absent DIP crease?

• low arch pattern on 6 or more fingers?

• simian crease(s)?

• nail hypoplasia?

• short hallux (great toe)?

• hypoplastic or absent thumb(s) ?

• ulnar or radial deviation of hand(s)?

• radial aplasia?

• syndactyly of toes or fingers?

• short fifth metacarpals?

• ectrodactyly (absence of all or part of a digit)?

• equinovarus?

• rocker-bottom feet?

• short sternum?

• small nipples?

• pectus excavatum?

• systolic heart murmur?

• cardiomegaly?

• dextrocardia?

• hernia (inguinal, umbilical, or omphalocele)?

• diastasis recti?

• malposed or funnel-shaped anus? (Y or N)

• imperforate anus?

• eventration or hernia of diaphragm?

• hypoplasia of labia majora?

• cryptorchidism?

• small pelvis with limited hip abduction?

• dislocated hip(s)?

• vertebral anomaly?

• meningomyelocele?

• scoliosis?

• rib anomaly?

• thrombocytopenia?

Select the appropriate answer for each finding

Gestational status at delivery

Slope of eyes

Body tone

Results

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Specialty

Objective

ICD-10