Fetal abnormalities

Fetal abnormalities

shortening of the bones of the hands or feet.

crescent shape to the cerebellum displayed with a coexisting neural tube defect.

bladder exstrophy

protrusion of the posterior bladder wall through a defect in the lower abdominal wall and anterior wall of the urinary bladder.

corpus callosum

band of white matter tissue connecting the cerebral hemispheres; serves a function in both learning and memory.

frontal bossing

protrusion or bulging of the forehead associated with hydrocephalus.

overt enlargement of the lateral ventricles secondary to an increase in intracranial pressure.

abnormally widespread position of the orbits.

abnormally close position of the orbits.

appearance of the dilated bladder superior to the obstructed male urethra.

concavity to the front bones of the fetal cranium; associated with spina bifida.

an excessively large tongue.

shortening of the middle portion of a limb.

shortening of all portions of a limb.

myelomeningocele

a developmental defect of the central nervous system in which a hernial sac containing a portion of the spinal cord, its meninges, and cerebrospinal fluid protrudes through a congenital cleft in the vertebral column.

nuchal thickness

distance between the calvaria and posterior skin line.

protrusion of nasal tissue above the orbits

shortening of the proximal portion of a limb.

enlargement and upper displacement of the third ventricle associated with agenesis of the corpus callosum.

ventriculomegaly

ventricular enlargement characterized by excessive cerebrospinal fluid within the ventricles.

structure located between the hemispheres of the cerebellum.

Cranial Abnormalities

ABNORMALITY	INFORMATION	SONOGRAPHIC FINDINGS	DIFFERENTIAL CONSIDERATIONS
Acrania	Abnormal migration of mesenchymal tissues Skull is absent Brain is present Elevated alpha-fetoprotein levels Coexisting spinal defects, clubfoot, cleft lip and palate	Lack of hyperechoic bony calvaria Brain tissue development Prominent sulcal markings	Anencephaly Osteogenesis imperfecta
Agenesis of the corpus callosum	Failure of callosal fibers to form a normal connection May be partial or complete Associated with multiple anomalies	Dilation of the third ventricle Outward angling of the frontal and lateral horns (steer sign) Dilation of the occipital horn Absent cavum septum pellucidi	Holoprosencephaly
Arachnoid cyst	Congenital abnormality of the pia-arachnoid layer A result of trauma, infarction, or infection	Splaying of cerebellum hemispheres Normal vermis	Dandy-Walker cyst Prominent cisterna magna Vein of Galen aneurysm Improper technique
Arnold Chiari Type II malformation	Displacement of the cerebellar vermis, fourth ventricle, medulla oblongata through foramen of magna into the upper cervical canal	Compressed shape to the cerebellum (banana sign) Obliteration of the cisterna magna Ventriculomegaly Lemon-shaped cranium	Spina bifida
Dandy-Walker syndrome	Congenital malformation of the cerebellum with associated maldevelopment of the fourth ventricle Result of alcohol abuse, autosomal recessive disorder, or viral infection	Enlarged posterior fossa Splaying of the cerebellar hemispheres Complete or partial agenesis of the vermis Cisterna magna >1.0 cm in diameter Ventriculomegaly	Prominent posterior fossa Arachnoid cyst Vein of Galen aneurysm Artifact
Hydranencephaly	Destruction of the cerebral cortex resulting from vascular compromise or congenital infection (usually carotid area) Brain tissue is replaced by cerebrospinal fluid	Anechoic brain tissue Not associated with other abnormalities Presence of the falx cerebri Brain stem usually spared Choroid plexus may be displayed Variable presence of the third ventricle	Severe hydrocephalus Holoprosencephaly
Hydrocephalus (ventriculomegaly)	Increase in ventricular volume caused by outflow obstruction, decrease in cerebrospinal fluid (CSP) production, or overproduction of CSP Occipital horn dilates first	Ventriculomegaly is generally symmetrical Mild Enlargement Lateral ventricle measuring 10-15 mm Severe Enlargement Lateral ventricle measuring >15 mm Dangling of the choroid plexus Echogenic rim of solid brain tissue	Hydranencephaly Holoprosencephaly Improper technique
Holoprosencephaly	Group of disorders arising from abnormal development of the forebrain Strongly associated with Trisomy 13 Alobar Monoventricular cavity Most severe form Semilobar Monoventricular cavity Milder form Lobar Two large lateral ventricles Mildest form	Alobar Large central single ventricle Fused thalami Absence of cavum septum pellucidi, falx cerebri, corpus callosum, and third ventricle Normal cerebellum Hypotelorism Cyclopia Proboscis Semilobar Large central single ventricle Occipital and temporal horns may be present Variable development of the falx Associated with cleft lip and palate Lobar Two large lateral ventricles Absent cavum septum pellucid, and cavum callosum	Severe hydrocephalus Hydranencephaly
Lemon shape	May be a normal finding Associated with spina bifida	Bilateral indentation of the frontal bones	Dolichocephaly
Microcephaly	Overall reduction in brain size Chromosomal aberration Intrauterine infection Difficult to detect before 24 wks	Small biparietal diameter (BPD) and head circumference (HC) Decreased HC/abdominal circumference (AC) ratio Sloping forehead	Anencephaly Encephalocele
Prosencephaly	A result of infarction or hemorrhage of the brain	Anechoic mass within an area of brain tissue Midline brain shift	Cystic leukomalacia
Strawberry shape	Associated with Trisomy 18	Flattened occiput diameter and narrowing of the frontal portion of the skull	Brachycephaly

Neural Tube Defect

DEFECT	INFORMATION	SONOGRAPHIC FINDINGS	DIFFERENTIAL CONSIDERATIONS
Anencephaly	Failure of the cephalic end of the neural tube to close completely Portions of the midbrain and brain stem may be present. Most common neural tube defect Elevated alpha-fetoprotein (AFP) levels Associated with malformations of the spine, face, feet, and abdominal wall	Absence of the cranial vault Bulging eyes (froglike face) Rudimentary brain tissue herniating from the defect Macroglossia Polyhydramnios Increase in fetal activity	Severe microcephaly Acrania Encephalocele Amniotic band syndrome
Caudal regression	Structural abnormality of the caudal end of the neural tube More common in patients with diabetes Associated with genitourinary, gastrointestinal, and cardiovascular abnormalities	Absent sacrum Fused pelvis Short femurs	Skeletal dysplasia
Encephalocele	Normal AFP level Presence of brain in a cranial protrusion More commonly arises in the occipital region	Spherical fluid-filled or brain-filled sac extending from the calvaria Bony calvarial defect	Cystic hygroma Cloverleaf skull deformity Amniotic band syndrome Microcephaly
Spina bifida	Failure of the neural tube to close completely Occulta Defect is covered by normal soft tissue Normal AFP level Rarely diagnosed with ultrasound Aperta Defect is uncovered Elevated AFP level Associated with cleft lip and palate, cardiac defects, encephalocele, gastrointestinal anomalies, and clubfoot	Coronal Disappearance of the middle hyperechoic line Widening of the external hyperechoic lines Sagittal Posterior hyperechoic line and overlying soft tissues are absent Transverse Outward splaying of the lateral posterior ossification centers into a “U” or “V” shape Cystic or complex mass protruding from spinal defect Cerebellum takes on a crescent shape (banana sign) Frontal bones are concave (lemon shaped)	Sacrococcygeal teratoma

Facial Abnormalities

ABNORMALITY	INFORMATION	SONOGRAPHIC FINDINGS	DIFFERENTIAL CONSIDERATIONS
Anophthalmia	Lack of fusion of the maxillary prominences with the nasal prominence on one or both sides Failure of the optic vesicle to form	Absence of the globe or often the orbit	Poor fetal position Technical error
Cyclopia	Midline fusion of the orbits Associated with holoprosencephaly, Trisomy 13, microcephaly, Williams syndrome	Single midline orbit	Poor fetal position Technical error
Facial cleft	Defect of the upper lip Most common facial abnormality	Anechoic defect between the upper lip and nostrils Polyhydramnios Small stomach	Technical error
Hypotelorism	Orbits placed closer together than expected	Abnormally small interocular distance for gestational age	Poor fetal position Technical error
Hypertelorism	Orbits placed wider apart than expected Associated with Trisomy 18, Noonan syndrome, Median cleft syndrome, craniosynostosis, and anterior cephalocele	Abnormally wide interocular distance for gestational age	Poor fetal position Technical error
Macroglossia	Associated with Beckwith-Wiedemann and Down syndromes Persistent protrusion of the tongue	Persistent protrusion of the fetal tongue Polyhydramnios	Normal tongue Umbilical cord
Micrognathia	Hypoplastic mandible Associated with Trisomy 18	Small receding chin and lower lip Polyhydramnios Protrusion of the upper lip	Technical error Normal chin

Neck Abnormalities

ABNORMALITY	INFORMATION	SONOGRAPHIC FINDINGS	DIFFERENTIAL CONSIDERATIONS
Cystic hygroma	Developmental defect of the lymphatic system Associated with chromosomal abnormalities, fetal hydrops, and fetal heart failure	Multilocular anechoic cervical mass Thin surrounding membrane No cranial defect Continuous with abnormal skin and subcutaneous tissues	Encephalocele Cystic teratoma Normal umbilical cord Thyroglossal cyst Nuchal edema
Nuchal edema	Thickening of the nuchal fold Associated with chromosomal abnormalities	Anechoic posterior cervical mass Midline septum	Cystic hygroma

Chest Abnormalities

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Jun 15, 2016 | Posted by admin in GYNECOLOGY | Comments Off

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ABNORMALITY	INFORMATION	SONOGRAPHIC FINDINGS	DIFFERENTIAL CONSIDERATIONS
Cystic adenomatoid malformation	Abnormal formation of the bronchial tree Replacement of normal pulmonary tissues with cysts May be associated with renal or gastrointestinal abnormalities	Simple or multiloculated cystic chest mass Mediastinal shift Diaphragm is visible and intact Fetal hydrops Polyhydramnios Usually unilateral	Diaphragmatic hernia Pleural effusion Pericardial fluid
Ectopia cordis	Partial or complete displacement of the heart outside of the thorax	Small thorax Heart located outside of the thorax Extrathoracic pulsating mass	Acardiac twin Diaphragmatic hernia
Ebstein anomaly	Displacement of the septal and posterior leaflets of the tricuspid valves into the right ventricle Variable in degree	Four-chamber heart Enlargement of the heart (especially right atrium) Regurgitation across the tricuspid valve with Color and Spectral Doppler	Tetralogy of Fallot Ventricular septal defect
Diaphragmatic hernia	Diaphragm fails to close allowing herniation of the abdominal cavity Associated with cardiac, renal, chromosomal, and central nervous system anomalies	Stomach or liver located in the thorax Inability to visualize normal diaphragm Mediastinal shift Small abdominal circumference Polyhydramnios Usually unilateral Left-sided defect more common	Cystic adenomatoid malformation
Pleural effusion