OB Final Exam - Anomalies, Syndromes, & Trisomy

Type 1 Thanatophoric Dysplasia

Most common form of Thanatophoric Dysplasia

Short bowed femurs

Flat vertebral bodies

Frontal bossing

Type 2 Thanatophoric Dysplasia

Short straight femurs

Clover skull

Achondroplasia

Most common non-lethal skeletal dysplasia

Fetus looks normal until 24 weeks

Rhizomelia with bowing femurs

Frontal bossing

Trident hands

Achondrogenesis

Bone hypomineralization - deceased/absent ossification of spine/skull

Lethal

Narrow thorax and ribs

Osteogenesis Imperfecta

Connective tissue disorder

Decreased mineralization of bones - brittle bones

Increased visualization of near field brain

Possibly abnormally shaped head and/or skull fractures

Least to most severe: 4, 1, 3, 2

Caudal Regression

Incomplete development of lower half of body

Sacral agenesis

Talipes - cubed feet

Short lower extremities

GU and GI anomalies

Sacrococcygeal Teratoma

Large complex mass

Arises from sacral spine

Spina Bifida

Spinal cord and/or vertebral column do not close properly

Associated with... Lemon-shaped head & Banana-shaped cerebellum

Spina Bifida Occulta

Cleft covered only by skin

Meningomyelocele

Meninges and neural elements herniate

Encephalocele

Brain herniates

Frontal Bossing

Protruding forehead

Lemon Sign

Sunken frontal bones

Strawberry Sign

Sunken frontal bones

Flattened occipital bone

Cloverleaf Sign

Sign of craniosynostosis

Spaulding Sign

Overlapping of cranial structures

Skull collapsing on itself

Anencephaly

Absent cranial vault

Absent/incomplete forebrain

Presence of brain stem, midbrain, skull base, face - has stromal covering

Bulging eyes

Lethal

Acrania

Partial or complete absence of cranium

May degenerate to anencephaly

Lethal

Choroid Plexus Cysts

Must be at least 2mm

Associated with Trisomy 18

Dandy-Walker Malformation

Defect in vermis of cerebellum that dilates the 4th ventricle

Splaying of cerebral hemispheres - enlarged cisterna magna

Alobar Holoprosencephaly

Single ventricle

Fusion of thalamus

Semilobar Holoprosencephaly

Single ventricle

Fusion of the thalamus

Partial formation of occipital horns

Remaining falx

Lobar Holoprosencephaly

Complete division of ventricles

Corpus callosum is present

Hydrocephalus

Dilated ventricles

Dangling choroid plexus

Enlarged head

Arnold Chiari

Lemon-shaped head

Banana-shaped cerebellum

No cisterna magna

Mass protruding from spine

Midface Dysplasia

Jaw and cheekbones do not grow well

Depressed or absent nasal bridge

Eyes and forehead appearing to bulge

Hypertelorism

Wide spread eyes

Common with frontal cephalocele

Hypotelorism

Decreased spaced between eyes

Common with skull/brain anomalies & syndromes

Proboscis

Flap of tissue superior to eyes - nose is usually absent

Arhinia

Absent nasal bone

Common with Trisomy 21

Cleft Lip

Most common facial anomaly

Palate doesn't fuse

Bilateral is slightly more common than unilateral

Low-Set Ears

Cystic Hygroma

Most common neck mass

Abnormal connection of lymphatic vessels

Associated with Turner's syndrome & aneuploidies

Thickened Nuchal Translucency

Anechoic fluid area in posterior neck region

Associated with Trisomy 21

> 3.4 mm

Thickened Nuchal Fold

> 6 mm

Pulmonary Hypoplasia

Lungs do not form properly

Small lung size

Bell-shaped chest

Oligohydramnios

Skeletal Dysplasia

Pleural Effusion or Hydrothorax

Congenital Bronchial Atresia

Pulmonary Sequestration

Bronchogenic Cyst

Cyst within lung tissue

Pleural Effusion

Fluid in pleural cavity

Pulmonary Sequestration

Extra lung lobe

Not connected to bronchial tree - nonfunctional

Has its own blood supply

Type 1 CPAM

Most common CPAM type

Large Cysts

Good prognosis

Type 2 CPAM

Multiple smaller cysts within echogenic lung

Poorer prognosis

Type 3 CPAM

Very bright lung parenchyma with few/no cysts

Lungs often have mass effect

Poorest prognosis - poor lung function

Diaphragmatic Hernia

Herniation of abdominal organs into thoracic cavity through defect in diaphragm

Echogenic Foci

Small echogenic area in heart

Usually in LV on papillary muscles or chordae

Cardiomegaly

Enlarged heart

Ectopia Cordis

Heart is partially/completely outside chest wall

Ebstein's Anomaly

Best seen in 4 Chamber

Apical displacement of tricuspid valve -> TV is lower than it should be

VSD

Most common cardiac defect

Best seen in LVOT view or 4ch. if septum is perpendicular to sound beam

Hole in ventricular septum

Commonly in membranous septum

ASD

Best seen when IAS is perpendicular to sound beam

Hole in atrial septum

HLHS - Hypoplastic Left Heart Syndrome

Most common cause of death from heart disease during the neonatal period

Failure for LV to develop - left side of heart is small or absent

Small LV Little color flow through MV

Small AO

Reversed flow through foramen ovale and ductus arteriosus

Tetralogy of Fallot

Best seen in LVOT view

VSD

Overidding/large AO

Pulmonary stenosis

RVH

DORV - Double RV Outlet

Best seen in PSAX or LVOT view

Pulmonary A and AO originate from RV

Truncus Arteriosus

Best seen in LVOT view

Truncoconal ridge fails to fuse

Appears as single great vessel with VSD

Transposition of Great Vessels

Best seen in PSAX view

Pulmonary A originates from LV

AO originates from RV

Omphalocele

Herniation of bowel into umbilical cord after 13 weeks

Type 1 Omphalocele

Contains only bowel

80% association with aneuploidy's

Type 2 Omphalocele

Contains bowel and liver

20% association with aneuploidy's

Gastroschisis

Open defect to the side of umbilical cord insertion

Bowel is outside of body

Bladder Exstrophy

Urinary bladder protrudes through lower abdominal wall defect

No bladder seen

Lower anterior abdominal wall defect

Pentalogy of Cantrell

Consists of 5 Defects:

Cleft sternum

Diaphragmatic hernia

Upper anterior wall defect

Cardiac defects -> ectopic cordsis (heart outside body) Pericardial defect -> creates pericardial/pleural effusion

Esophageal Atresia

Stenosis in esophagus

Stomach is not visualized

Duodenal Atresia

Fluid reaches duodenum, but cannot move past it

Double Bubble Sign

Enlarged stomach & prox. duodenum

Intestinal Obstruction

Atresia of jejunum and/or ilium

Dilated bowel

Hyperechoic Bowel

Bowel as bright as bone

Classic Potter's Syndrome

Bilateral renal agenesis

Oligohydraminios

Pulmonary hypoplasia

Facial/hand/feet anomalies

Potter's Syndrome Type I - Polycystic Kidney Disease

Bilateral micro cysts

Bilateral enlarged, echogenic kidneys

Empty bladder

Potter's Syndrome Type II - Multicystic Dysplastic Kidney Disease

Kidney tissue is replaced by cysts - multiple and variable in size

Usually unilateral

Enlarged kidneys

Ill-defined walls & parenchyma/pelvis

Potter's Syndrome Type III - Autosomal Dominant Polycystic Kidney Disease

Bilateral large cysts

Large kidneys

Hyperechoic parenchyma

Normal bladder/fluid levels

Potter's Syndrome Type IV - Obstructive Cystic Dysplasia

Cortex is replaced with cysts

Dilated pelvis and ureter

Grade 0 Hydronephrosis

Normal kidney

Grade 1 Hydronephrosis - Pyelectasis

Fluid within renal pelvis, but small enough to be considered insignificant/within normal range

Grade 2 Hydronephrosis

Pelvis is > 10 mm

Few calyces seen

Cortex is normal

Grade 3 Hydronephrosis

Pelvis is > 10 mm

Marked dilation of calyces

Cortex is normal

Grade 4 Hydronephrosis

Pelvis is > 10 mm

Marked dilation of calyces

Mild thinning of cortex

Grade 5 Hydronephrosis

Pelvis is > 10 mm

Marked dilation of calyces

Severe thinning of cortex

Posterior Urethral Valve Obstruction

Only in boys

Causes bilateral hydronephrosis

Thick bladder walls

Keyhole bladder appearance

Prune Belly Syndrome

Triad of symptoms:

Distended abdominal muscles

Obstruction of urinary tract

Cryptorchidism

Distended abdomen

Enlarged bladder

Bilateral hydronephrosis

Oligohydramnios -> hypoplastic lungs

Pathologies that can cause Polyhydramnios

Omphalocele

Esophageal atresia

Duodenal atresia

Midgut Volvulus

Intestinal Obstruction

Mesoblastic Nephroma

Pathologies that can cause Oligohydramnios

Bilateral renal agenesis

Potter's syndrome

Bladder outlet obstruction

Prune belly syndrome

Megalourethra

Reasons for increased hCG levels

Incorrect dates - fetus older than expected

Multiple babies

Trophoblastic/placental disease

Trisomy 21

Reasons for decreased hCG levels

Incorrect dates - fetus younger than expected

Fetal demise

Ectopic pregnancy

Trisomy 18

Reasons for increased AFP levels

Incorrect dates - fetus older than expected

Multiple babies

Placental disease

Leakage from fetus into amniotic fluid via abdominal wall or neural tube defects

Reasons for decreased AFP levels

Incorrect dates - fetus younger than expected

Fetal death

Trisomy 21 or 18

Blockage in fetal urogenital tract

Molar pregnancy

Turner's Syndrome

Absent X chromosome or 46X0/46XXX

Only in females

Mimics Noonan's syndrome (males)

Features of Turner's Syndrome in a Fetus

Horseshoe kidneys

Aortic coarctation

Features of Turner's Syndrome in a Child/Person

Webbed neck

Shield chest

ABNL elbow angle

Trisomy 21

Down syndrome

Extra 21st chromosome

Most common aneuploidy

Low IQ always present

Absent nasal bone

Duodenal atresia

Omphalocele

Echogenic bowel

Sandal gap

Clinodactyly

Trisomy 18

Edward's syndrome

Extra 18th chromosome

Strawberry-shaped head

Chorioid plexus cysts

Septal defects

Clenched fists/talipes/rocker bottom feet

Facial defects

Trisomy 13

Patau syndrome

Extra 13th chromosome

Holoprosencephaly

Cleft lip & cyclopia

Cystic hygroma

Polydactyly

2 vessel cord

Triploidy

Extra chromosome on all sets - 69 total

Apert Snydrome

Craniosynostosis

Hypertelorism

CHARGE Syndrome

Coloboma

Heart defects

FGR

Genital hypoplasia

Ear anomalies

Meckel-Gruber Syndrome

Polycystic kidneys

Encephalocele

Polydactyly

Holt-Oram Syndrome

Radial ray

Cardiac defects -> ASD

Aicardi Syndrome

Agenesis of corpus callosum

Beckwith-Weidemann Syndrome

Overgrowth of tissues & organs

Omphalocele

VACTERL Syndrome

Group of anomalies that sporadically occur together 3 must be present to confirm:

Vertebral defects

Anal atria

Cardiac anomalies

Tracheo-esophageal fistula

Renal anomalies

Limb dysplasia

Limb-Body Wall Complex

Due to amnion rupture or ABNL embryonic folding

Short umbilical cord

Omphalocele

Limb defects

Neural tube defects