Trisomy 18 Score

intrauterine growth retardation

5

prematurity, or postmaturity

5

single umbilical artery

5

prominent occiput with narrow bifrontal region

5

microcephaly

3

hypoplastic supraorbital ridges

3

short palpebral fissures

5

upward or downward obliquity of eyes

1

epicanthal folds

3

corneal opacification

3

coloboma of the iris

1

low-set, malformed auricles

5

choanal atresia

1

small oral opening

5

micrognathia

5

narrow palatal arch

5

cleft lip and/or palate

1

characteristic hand posture (clenched hand with overlapping of index finger over the third finger, and fifth finger over fourth)

5

absent DIP crease

5

low arch pattern on > 5 fingers

5

simian crease(s)

3

nail hypoplasia

5

short hallux (great toe)

5

hypoplastic or absent thumb(s)

3

ulnar or radial deviation of hand(s)

3

radial aplasia

1

syndactyly of toes or fingers

3

short fifth metacarpals

1

ectrodactyly (absence of all or part of a digit)

1

equinovarus

3

rocker-bottom feet

3

short sternum

5

small nipples

5

pectus excavatum

1

systolic heart murmur

5

cardiomegaly

5

dextrocardia

1

hernia (inguinal, umbilical, or omphalocele) or diastasis recti (separation of rectus abdominis muscles)

5

malposed (not in normal position) or funnel-shaped anus

3

imperforate anus

1

eventration (elevation of dome) or hernia of diaphragm

3

female sex

5

hypoplasia of labia majora

3

cryptorchidism

3

hypotonia or hypertonia

3

small pelvis with limited hip abduction

3

dislocated hip(s)

1

vertebral anomaly

1

meningomyelocele

1

scoliosis

1

rib anomaly

1

thrombocytopenia

1

<= 60

not Trisomy 18

61 – 69

indeterminate

>= 70

Trisomy 18 present