Table 2 Diagnosis found using prenatal images and corresponding markers from the Fetus.net

380

Macrocephaly, short long bones, polyhydramnios, platyspondily

Schneckenbecken dysplasia

same diagnosis

378

Hydrops, micromelia, ribs, narrow thorax, calcification of liver, polydactyly of hands

Greenberg dysplasia

same diagnosis

376

Mega cisterna magna, micrognathia, pulmonary valve stenosis

DiGeorge sd

2 diagnosis including the correct one⁽¹⁾

370

Ventriculomegaly, craniosynostosis, prominent forehead, midfacial hypoplasia, macroglossia, renal cyst

Pfeiffer sd type II

same diagnosis

366

Macrocephaly, abnormal profile, polydactyly, sandal gap

Greig cephalopolysyndactyly

same diagnosis

363

Macrocephaly, hypoplastic thoracic cage, platyspondyly, micromelia, brachydactyly, bowed bones, low nasal bridge

Thanatophoric dysplasia type I

same diagnosis

361

Low nasal bridge, trident hands, frontal bossing, rhizomelia, narrow thorax

Achondronplasia

same diagnosis

357

Narrow thorax, bowed femurs, low set ears, clubfoot, nuchal edema, heart, retrognatia

Campomelic dysplasia

same diagnosis

345

Kyphoscoliosis, hemivertebra, ribs

Jarcho-Levin sd

same diagnosis

331

Ventriculomegaly, hypoplastic cerebellum, agyria

Walker-Warburg sd

same diagnosis

326

Flat nose, exophtalmia, cleft in soft palate, periventricular calcification, hypoplastic thoracic cage

Raine sd

same diagnosis

321

Cloverleaf shape, broad big toe, low nasal bridge, prominent eyes

Pfeiffer sd

same diagnosis

320

Accessory auricle

Goldenhar sd

3 diagnosis including the correct one⁽²⁾

318

Polydactyly of hands and feet, Rhizomelia/short femur and humerus, Ventricular septal defect

Ellis van Creveld sd

same diagnosis

316

Sacral agenesis, meningocele

Curranino sd

same diagnosis

314

Depressed nasal bridge, frontal bossing, mitten deformity, corpus callosum

Apert sd

same diagnosis

308

Hydrops, elbow pterygia, micrognathia

Multiple pterygium sd

same diagnosis

305

Polydactyly of hands, micromelia, hypoplastic thoracic cage

Short rib polydactyly

same diagnosis

302

Face, holoprosencephaly, anophtalmia, cleft lip

Cerebro-oculo-nasal sd

same diagnosis

290

Abnormal profile, hydramnios, single umbilical artery, micrognathia

Treacher Collins sd

same diagnosis

286

Soft tissu and bone hypertrophy, skin hemangiomas

Klippel-Trenaunay-Weber sd

same diagnosis

279

Postaxial polydactyly of toes, ascites, hydrometrocolpos

McKusick-Kaufman sd

same diagnosis

277

Skin, corpus callosum, cleft of soft palate

Pai sd

same diagnosis

272

Hydramnios, micromelia, narrow thorax, short ribs, hepatomegaly

Caffey disease

same diagnosis

263

Rhizomelia/short femur /short humerus, postaxial polydactyly, ASD, Hypoplastic thoracic cage

Ellis-Van Creveld sd

same diagnosis

257

Hydrops, barrel shape chest, omphalocele, micromelia

Achondrogenesis type I

same diagnosis

153

Kyphoscoliosis, neural tube defect, ventriculomegaly

Jarcho-Levin sd

same diagnosis

118

Polyhydramnios, small/collapsed stomach, (previous hepatomegaly & IUD)

Gaucher type II

4 diagnosis including the correct one⁽³⁾

117

Micrognathia, Mesomelia forearms, Hypoplastic thumbs

Nager sd

same diagnosis

100

Hydramnios, akinesia, talipes, face, hands

Myotonic dystrophy

same diagnosis

93

Cloverleaf skull, vertebral body, broad big toes, broad thumbs, prominent eyes

Pfeiffer sd type II

same diagnosis

81

Cloverleaf skull, micromelia, hydrocephalus, exophtalmia, hypoplastic thorax

Thanatophoric dysplasia II

same diagnosis

79

Abdominal wall, ectopia cordis

Pentalogy of cantrell

same diagnosis

77

IUGR, generalized edema, single umbilical artery (SUA)

Monosomy X

same diagnosis

75

Hypertelorism, dandy walker, dilated aorta, pulmonary valve stenosis, rocker bottom foot, clinodactily, pectus excavatum, SUA

Trisomy 9

same diagnosis

71

Hypospadia, nasal bone hypoplasia, micrognathia

Trisomy 21

same diagnosis

67

Clubfoot, limbs, sacrum

Atelosteogenesis type II

same diagnosis

65

Coarctation of aorta, unilateral hypoplasia of cerebellum, hemangioma

PHACE association

same diagnosis

48

Thick placenta, IUGR, anhydramnios/oligohydramnios

Trisomy 16

2 diagnosis including the correct one⁽⁴⁾

44

IUGR, polyhydramnios, increased NT, kydneys, broad thumbs, short long bones

Rubinstein Taybi Syndrome

same diagnosis

41

Holoprosencephaly, pectus excavatum, clenched hands, akinesia

Holoprosencephaly-fetal akinesia sequence

same diagnosis

40

Micrognathia, skin

Goldenhar sd

5 diagnosis including the correct one⁽⁵⁾

38

Hydrocephalus, thin upper lip, mega cisterna magna, extremities

Fryns sd

5 diagnosis including the correct one⁽⁶⁾

34

Polyhydramnios, nuchal thickening, micrognathia, poor ossification of ribs, receding forehead

Cerebro-costo-mandibular sd

same diagnosis

31

Micrognatia, renal hypoplasia, IUGR

Wolf-Hirschhorn sd

same diagnosis

30

Skin hemangiomas, renal

Klippel Trenaunay Weber sd

same diagnosis

23

Choroid plexus cyst, limbs, clenched hands, overlapping fingers, clubfoot, nuchal thickening

Pena Shokeir sd

2 diagnosis including the correct one⁽⁷⁾

20

Short limbs, overlapping fingers, clinodactyly, hypoplastic kidneys, ventriculomegaly, heart

Smith Lemli Opitz sd

same diagnosis

12

Omphalocele, bladder extrophy, neural tube defect, clubfoot

OEIS complex

same diagnosis

1

Oligohydramnnios, heart, micrognathia, placenta, sandal gap

Triploidy

same diagnosis