September 28-30, 2018

Course Director Ultrasound Assessment of Fetal Skeletal System Evaluation of the Fetal Skeletal System  Extremities 2D & 3D Ultrasound  Spine  Calvarium

Carol B. Benson, MD No Disclosures

41 weeks Epiphysis Long Bone Development Tole 41w epiphysis

Ossify by the end of the first trimester Late third trimester 2° ossification centers visible distal femur proximal tibia proximal humerus

Extremities

Drachman & Rousseau nl Assess To Exclude Spine 3D Size Skeletal dysplasia Presence Absent limb Amniotic band syndrome Bones of forearms Radial hypoplasia Hand position Clenched fists Foot position Clubfoot Rockerbottom foot Michel arm 3 bones

Caraballo nl hand

Reed 3D Foot Foot

Femur Length Steimle Femur length Normal for gestational age = Mean ± 2 SD Femur length falls 2 - 4 SD below mean Most are growth restricted Without skeletal dysplasia Femur length falls > 4 SD below mean Usually a skeletal dysplasia Bones appear abnormal by US Long Bones are Too Short Skeletal Dysplasias Ultrasound assessment  Skeletal dysplasia Degree of shortening of long bones  Dysotosis typically > 4 SD below mean for GA  Malformation Distribution of involved bones extremities, spine, calvarium, ribs  Deformation Bony abnormalities amniotic band syndrome ↓ mineralization, fractures, bowing restrictive uterine environment Polydactyly

Lethal Skeletal Dysplasias Nonlethal Skeletal Dysplasias Neonate cannot survive Infants typically survive usually due to respiratory failure Ultrasound diagnosis typically Ultrasound diagnosis typically not made in 2nd trimester made in 2nd trimester sometimes made in 3rd trimester  Thanatophoric dysplasia  Heterozygous achondroplasia  Osteogenesis imperfecta Type 2  Osteogenesis imperfecta Types 1&4  Achondrogenesis  Asphyxiating thoracic dystrophy  Congenital hypophosphatasia  Short rib – polydactyly syndrome

Thanatophoric dysplasia Thanatophoric Dwarf

Most common lethal skeletal dysplasia Cole thanatophoric dwarf Severe rhizomelia (proximal shortening) Bowed long bones Narrowed thorax – short ribs Flattened vertebral bodies Cloverleaf skull Megalencephaly – temporal lobe with excess sulcation/fissures Thanatophoric dysplasia

Kristian 19w thanatophoric

FEM

Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 Type 2

Type 2 — Autosomal recessive Lethal Ultrasound findings — Type 2 Lopez OI Fractures Deformities Poor mineralization Soft skull Types 1, 3, & 4 — Autosomal dominant Nonlethal

Osteogenesis Imperfecta Type 2 Osteogenesis Imperfecta Type 2

Lopez OI Astacio OI 3D Osteogenesis Imperfecta Type 1 & 4 Osteogenesis Type 1 & 4 — Autosomal dominant Imperfecta Nonlethal Type 2 Wang OI Ultrasound findings — Type 1 & 4 Lagging growth of long bones 3rd trimester Bowing of long bones Mild deformities Poor mineralization Soft skull

Osteogenesis Imperfecta Type 1 Osteogenesis Imperfecta Type 4

McBride OI type 4 Al-Owfi OI type 4

Arthrogryposis Arthrogryposis Multiplex Congenita

Multiple joint contractures Etiologies Ultrasound findings  Limitation to movement Contractures Oligohydramnios Fetal growth restriction Multiple gestation Polyhydramnios Bicornuate uterus Hydrops  Abnormal nerve function  Abnormal musculature  Defective connective tissue Arthrogryposis

McGuigan arthrogryposis

Beausoleil arthrogryposis

Arthrogryposis from Clenched Hands – Cytomegalovirus Larsen syndrome (rare genetic syndrome)

Zaiats clubfeet CMV Banerjee Larsen syn arthrogryposis

Ventriculomegaly Intracranial calcifications

Clubfeet – Cytomegalovirus Abnormal Hands & Forearms

Zaiats clubfeet CMV  Isolated  Part of multiple anomalies or syndrome Radial ray anomalies Orofacial malformations Blood dyscrasias Congenital heart disease Absent radius – Trisomy 18 Radial Ray Anomalies Associated with Syndromes Colon absent Cornelia de Lange radius tri 18 Fanconi anemia Holt-Oram Radial aplasia-Thrombocytopenia Poland syndrome Nager acrofacial dysostosis VACTERL Trisomies 13 & 18

Hypoplastic radius Abnormal thumb Limb Reduction Defects VACTERL Terminal transverse deletions Martins hypopl (e.g., absent hands) radius VACTERL Isolated sporadic, unilateral amniotic band syndrome vascular accident Syndromes Orofacial (e.g., Poland) Amniotic bands

Penney absent toes ABS Osgood absent hand Right hand Left arm

Gallo absent forearm

Osgood absent hand 3D bones

Nager Acrofacial Dysostosis

Characteristics Alshamsi Nager’s Mandibulofacial dysostosis Hypoplastic mandible External ear abnormalities ± Auditory canal atresia Upper extremity reduction defects Radial ray defects

Polydactyly with Meckel-Gruber Polydactyly Supernumerary fingers or toes Skeletal dysplasias

Short-rib polydactyly MacGowan polydactyly with Chondroectodermal dysplasia Meckel Gruber Asphyxiating thoracic dysplasia Trisomy 13 Meckel-Gruber syndrome Autosomal dominant polydactyly usually post-axial Hand Foot Duplicated thumb

Malenko dup thumb polydactyly

Silkina polydactyly Polydactyly

Ectrodactyly Ligibel cleft hand missing finger V-shaped defect (cleft) in middle of hands &/or feet with missing digits ± Syndactyly Associated Genetic syndromes, e.g. Split-hand-foot malformation Silver-Russell Cleft Cornelia de Lange hand

Clinodactyly & Dowd ectrodact hands & feet Overlapping Digits

Appleton absent finger Deviation or deflection of finger(s) Curving of 5th finger towards 4th Trisomy 21 Overlapping digits Trisomy 13 Trisomy 18 Clinodactyly – Trisomy 21

Paolini tri 21 clinodactyly Sin abnl hands

Clenched hands – Trisomy 18 Clenched hands – Trisomy 18

Powell tri 18 Ferrouillet clinodactyly clinodactyly

Clubfoot Clubfoot Etiology Genetic Lashley clubfeet A variety of syndromes Chromosomal defects 13 weeks Environmental Severe oligohydramnios Uterine anomalies Ultrasound findings Bones of the foot lie in parallel to bones of lower leg 21 weeks Rockerbottom feet Rockerbottom Foot

Etiology Woodland Trisomy 18 rockerbottom feet Skeletal dysplasia Ultrasound findings Rounded bottom of foot

Proximal Focal Femoral Deficiency Michailidis PFFD 3D

 Partial absence of proximal femur Proximal  Unilateral (90%) Focal  Associated with other skeletal Femoral anomalies Deficiency

Amniotic Band Syndrome

Janvier PFFD Early rupture of amnion postnatal  Fibrous bands entrap or adhere to fetus Proximal  Focal Limb amputations or deformities Femoral Encephaloceles Deficiency Facial clefts Postnatal Ventral wall defects Ectopia cordis Amniotic Band Amniotic Band Syndrome Syndrome

Allien ABS Dailey ABS 13 weeks anomalous hand

20 weeks

28 weeks

Spinal Abnormalities

 Meningomyelocele Meyers 17w ABS  Hemivertebra Amniotic Band Syndrome  Scoliosis  Diastomatomyelia  Caudal regression / sacral agenesis  Sacrococcygeal teratoma

Meningomyelocele 18 weeks Meningomyelocele

Davis 18w Meningomyelocele

Normal

Meningomyelocele Meningomyelocele Meningomyelocele – 25 weeks

Maya meningomyelocele 19 weeks

Maya meningomyelocele

19 weeks Meningocele

Spina bifida Cabral 19w 3D Protrusion of membranes & fluid Meningocele No protrusion of nerve roots Often skin covered Ultrasound findings splaying of posterior elements cystic mass protruding

Hemivertebrae

Reif 20w Meningocele Associated with a variety of syndromes Ultrasound findings Kink in spine Mismatch of posterior ossification centers Hemivertebrae Hemivertebrae

5 Johnson hemivertebrae Hazen Hemivert 10

Diastomatomyelia

 Bony, cartilaginous or fibrous Rossman hemivert spur bisecting spinal canal and spinal cord  Causes tethered cord  Widened spinal canal  Sometimes associated with neural tube defect

Diastomatomyelia with meningomyelocele Diastomatomyelia with meningomyelocele

Pecci diastomatomyelia Pecci diastomatomyelia & Meningomyelo & Meningomyelo Diastomatomyelia with meningomyelocele Sacral Agenesis

 Hypoplasia / absence Pecci diastomatomyelia & Meningomyelo 2 or more sacral vertebrae  In fetuses of diabetic mothers with poor glucose control

Sacral agenesis Sacral agenesis

MacDougall Benson sacral agen sacral agenesis

Sacrococcygeal Teratoma Sacral erosion Sacrococcygeal Teratoma

Germ cell tumor arising

in presacral area Bonica SCT Ultrasound findings Mass arising from lower sacrum Extending posteriorly and inferiorly ± Hydrops ± Extension anteriorly into pelvis Cranial Anomalies Craniosynostosis Premature closure of one or more cranial sutures; Male:Female = 2:1  Craniosynostosis Complications:  Trigonocephaly (Trisomy 13) Abnormal head shape  Cloverleaf skull (Thanatophoric Abnormal faces dysplasia) Neurologic deficits  Lemon sign (Chiari II malformation) e.g., hearing loss  Strawberry skull (Trisomy 18) Prenatal diagnosis Typically not possible before 3rd trimester

Apert Syndrome Craniosynostosis Trigonocephaly

Craniosynostosis with premature

Duprey Aperts craniosyn fusion of metopic suture (anterior midline, forehead) Associated with Trisomy 13

27 weeks

Trigonocephaly – Trisomy 13 Cloverleaf Skull

Craniosynostosis causing trilobed shape Britt tri 13 trigonoceph prominent forehead Associated with Thanatophoric dysplasia

Semilobar 35 weeks Holoprosencephaly Cloverleaf skull – Thanatophoric dysplasia Cloverleaf skull – Thanatophoric dysplasia

Cole thanat skull Cole thanat skull

20 weeks 29 weeks

Lemon Sign with Lemon-Shaped Cranium Meningomyelocele Associated with Chiari II malformation

Meningomyelocele Victoria lemon sign

Strawberry-Shaped Cranium Strawberry-Shaped Cranium Trisomy 18 – 15 weeks

Associated with Trisomy 18 Schindler strawb sk