Ch. 53, 55-64 All Flashcards
1
Q
AFP Alpha-Fetoprotein
A
Fetal protein made by YS then fetal liver; sample in wks 15-18; Elevated- neural tube defects, abd wall defects, etc; Low- Trisomies; US-amniocentesis when MSAFP elev and US offers no explanation
2
Q
CVS Chorionic Villus Sampling
A
US guided biopsy of placenta or chorionic villi; detects chromosomal anomalies, biochemical or metabolic disorders, thalassemia, and sickle cell; Performed early (GA 10-12wks); US- full survey first and determine locations
3
Q
Amniocentesis
A
US guided sampling of amniotic fluid for genetic testing; GA- 15-20 wks (earlier has risks); US- full survey first; collect away from fetus, central placenta, umbilical cord, and near maternal midline to avoid UT vessels
4
Q
Aneuploidy
A
Abnormal number of chromosomes; High prevalence in patients referred for amniocentesis b/c of advanced maternal age, abnormal AFP, abnormal quad screen, or US detection of multiple fetal anomalies.
5
Q
Placentamegaly
A
Enlarged placenta >600 g; Assoc w/maternal and fetal disorders, maternal diabetes, and Rh incompat; US- placenta thickened >4cm from subplac veins to amniotic fluid junction
6
Q
Cordocentesis
A
Obtains fetal blood through US guided needle aspiration of umbilical cord to test chromosomes; FISH has decr need; US- more for guided transfusions in Rh isoimmunization
7
Q
Nuchal Transluceny NT, “Translucency Three, Fold Five”
A
Abnormal fluid collection at neck; Strongly assoc w/aneuploidy; US- measure btwn 10-14 weeks; clear margins in sag plane away from amnion; >3mm abnormal
8
Q
Polyhydramnios
A
amniotic fluid volume >2000 ml (AFI >20cm); caused by maternal diabetes (most common), fetal Macrosomia, and Rh isoimmunization; USA- Freely floating fetus w/in the swollen amniotic cavity, accentuated fetal anatomy, AFI = or >20cm (mild).
9
Q
Oligohydramnios
A
Overall reduction in AFI; fetal crowding and decreased fetal movement; USA- AFI less than 5cm; poor scanning resolution
10
Q
Chorioid Plexus Cysts
A
Common; CSF trapped w/in the neuroepithelial folds; usually isolated; often resolve by 22-26 weeks GA; may be associated w/aneuploidy; USA- Round/ovoid anechoic w/in the CP; sizes from 0.3 – 2 cm; uni- or bilateral; solitary or multiple; unilocular or multlocular
11
Q
Ventriculomegaly
A
Dilatation of the ventricles w/in the brain; occurs w/obstruction of CSF flow; USA- lateral ventricular >10 mm; “dangling choroid sign;” possible dilatated 3rd and 4th ventricles
12
Q
Thickened Nuchal Fold, “Translucency Three, Fold Five”
A
Measured in 2nd trimester in plane w/CSP, Cere, and CM; risk for aneuploidy; normal is less than 5mm up to 20 wks
13
Q
Diabetes Mellitus/ Macrosomia
A
Diabetes increases risks of complications, including macrosomia; USA- correct dating important for size, polydydramnios, caudal regression syndrome
14
Q
Cardiac Anomalies
A
Associated w/various anomalies, including trisomy 21 (Down’s) and polyhydramnios
15
Q
oMphalocele M=membrane
A
Persistent bowel and/or liver within umbilical cord beyond 12th week; worse than gastroschisis, especially if contains liver; abdominal echogenic wall mass w/surrounding membraine; ascites
16
Q
GastRoschisis R=Right
A
Abdominal wall defect (almost always to right of umb cord) w/herniated bowel passing through; elev. MSAFP; USA- free floating bowel seen outside abdominal cavity w/o a covering membrane
17
Q
Spina Bifida
A
Cleft or opening in spine; USA- flattened frontal bones, obliterated CM, “banana” cerebellum; SB Occulta-opening covered w/skin or hair, normal MSAFP, difficult to detect w/US; Meningocele- open defect w/only protrusion of meninges, USA- splaying posterior ossification centers w/V or U shape, cleft in skin, saclike anechoic protrusion; Meningomyelocele- common defect w/meninges and neural elements protruding, USA-splaying w/V or U shape, cleft in skin, saclike protrusion that contain neural elements
18
Q
Talipes (clubfoot) “Tap the ball with your club”
A
Deformities of foot/ankle. USA- may appear as persistent abnormal inversion of the foot perpendicular to the lower leg.
19
Q
Rocker Bottom Feet
A
Prominent heel and a convex sole; associated w/multiple syndromes, especially trisomy 18. USA- can look similar to clubfoot.
20
Q
Amniotic Band Syndrome “Bands are bad”
A
“Amniotic bands” (fibrous tissue stands) compress fetus; causes fetal malformations involving the limbs, craniofacial region, and trunk; USA- malformation of the fetus, echogenic bands present w/in the amniotic cavity- follow closely to see where band is attached
21
Q
Synechiae
A
UT scars from previous instrumentations used in the UT (usually curettage), c-sect, or episodes of endometritis; leads to amniotic sheets. USA- echogenic nonfloating bands that cross throught the amniotic cavity
22
Q
Amniotic Sheets
A
echogenic nonfloating bands cross through the amniotic cavity; thicker than amniotic band syndrome; don’t cause fetal malformations; USA- fine echodense line in the UT cavity; surround fetus or be freely mobile; maternal blood flow w/in
23
Q
Polydactyly
A
Extra digits. USA- extra fingers or toes.
24
Q
Syndactyly “Syn/Stuck”
A
Fused digits. USA- difficult to distinguish on US.
25
Clinodactyly
Overlapping digits. USA- difficult to distinguish on US.
26
Amelia
Congenital absence of one or more extremities. USA- may be recognized prenatally.
27
Trisomy 13, 18, 21 PEDs
13- Patau; 18-Edwards; 21-Down's
28
Trisomy 13
Patau’s syndrome; extremely severe; extra chromosome 13; consists of multiple anomalies; lethal w/80% of infants dying w/in the 1st month. USA- Holoprosencephaly, corpus callosum agenesis, microcephaly, facial anomalies (ex. Cyclopia and single nostril), cleft lip/palate, heart defects, omphalocele, renal anomalies, limb anomalies, cystic hygroma, echogenic chordae tendineae, IUGR, 2 vessel cord, polyhydramnios.
29
Trisomy 18
Edwards’ syndrome; 2nd most common w/extra chromosome 18; lethal anomaly w/90% of infants dying w/in the 1st year; USA- cardiac anomalies, cranial anomalies, low-set ears, micrognathia, cleft lip, persistently clenched hands, radial aplasia, Omphalocele, diaphragmatic hernia, neural tube defects, cystic hygroma, renal anomalies, polyhydramnios, IUGR, 2 vessel cord, nonimmune Hydrops.
30
Trisomy 21
Down syndrome; one of most common chromosomal disorders; extra #21 chromosome; association w/advanced maternal age and abnormal nuchal translucency. USA- limited; nuchal fold 6mm or greater, extremity anomalies, shortened femur or humerus, duodenal atresia, heart defects, IUGR, mild pyelectasis, echogenic bowel, mild Ventriculomegaly, echogenic intracardiac focus, absence of nasal bone at 11-14 weeks.
31
Turner Syndrome
45X; absence of the X or Y chromosome; not associated w/advanced maternal age; /elevated MSAFP when cystic hygroma is present. USA- cystic hygroma, cardiac anomalies, general lymphedema, Hydrops, renal anomalies, short femurs, oligohydramnios, especially when severe renal anomalies exist.
32
Coarctation of the Aorta
Discrete shelflike lesion in the isthmus of arch or at site of ductal insertion near left subclavian; this and ventricular septal defects most common cardiac defect w/Turner's Syndrome
33
Acrania
Lethal; absence of cranium w/complete, although abnormal, development of the cerebral hemispheres. USA- brain tissue w/o a calvarium; disorganization of the brain tissue; prominent sulcal markings; “Mickey Mouse” bilobed brain in 1st trimester.
34
Anencephaly
Most common neural tube defect; “absence of the brain;” lethal; USA- detectable at 10-14 weeks’ GA; Acrania; reduction in CRL w/advancing GA; 2nd trimester appears as absent cerebral hemispheres along w/absence of the skull; rudimentary brain tissue (cerebrovasculosa); bulging fetal orbits (fetus looks “froglike”)
35
Ectopia Cordis
Exposed heart outside chest wall through a cleft sternum. USA- heart outside the thoracic cavity; a portion or all of the heart may protrude through the defect in the sternum; pericardial and pleural effusions common.
36
Duodenal Atresia
Blocked duodenal lumen; prohibits passage of swallowed amniotic fluid; Atresia or narrowing below obstruction; amniotic fluid backs up into the duodenum and stomach. USA- Two echo-free structures (stomach and duodenum) in upper fetal abdomen “double bubble sign;” hydramnios almost always seen; IUGR
37
Esophageal Atresia
Blocked esophagus; a fistula that communicates between the trachea and esophagus may allow passage of amniotic fluid into the stomach. USA- polyhydramnios and absent stomach over repeated studies; fluid may be in the stomach because of fistula; blind-ending esophagus during fetal swallowing; “upper neck sign.”
38
Diaphragmatic Hernia
Herniation of the abdominal viscera into chest that results from a defect in the fetal diaphragm; most common occurs posteriorly and laterally. USA- left-sided congenital diaphragmatic hernia- cardiac silhouette displaced to the right w/ectopic stomach in the chest; sag may show defect in diaphragm; fetal lung may be small and compressed; cardiomediastinal shift critical in diagnosis; intrathroacic liver; Through foramen of Bochdalek
39
Fetal Hydrops
Free fluid or edema w/in a fetus in at least 2 areas; USA- fetal ascites; pleural effusion; skin edema >5-6mm; pericardial effusion >2mm; placental edema >4-4.5cm in true A/P diameter
40
Rh isoimmunization
Causes (IHF) Hydrops Fetalis because of maternal Rh antigens attacking fetus. USA- evidence of ascites, pleural effusion, and/or skin edema, thickened placenta and hydramnios
41
Cystic Hygroma
Malformation of lymphatic system leads to single or multiloculated lymph-filled cavities around neck; may lead to fetal Hydrops, even death. USA- bilateral large cystic masses at the posterolateral borders of the neck; in severe cases, may surround neck and head and upper trunk; may have dense septations
42
Meconium Peritonitis
Fetus has a sterile chemical peritonitis secondary to in utero bowel perforation; may have meconium Pseudocyst. USA- calcifications seen on peritoneal surfaces or in the scrotum via the processus vaginalis; ascitic fluid may be echogenic; hydramnios
43
Epignathus
Teratoma in the oropharynx; Highly complex and contain solid, cystic, or calcified components; swallowing impaired, resulting in hydramnios; small stomach. USA-abnormal positioning of tongue; small stomach; hydramnios
44
Fetal Goiter
Enlarged fetal thyroid; may be from maternal thyroid disease. USA- symmetrical, solid, homogeneous mass arising from the anterior fetal neck; hydramnios and a small or absent stomach
45
Cleft Lip
Common; failure to fuse primary and secondary palate; cleft courses anteriorly through the upper lip and alveolus; unilateral or bilateral; occurs in isolation or w/other anatomic and karyotypic abnormalities. USA-modified coronal plane as gap in upper lip; may affect nose (swelling, flattened, widened, or intact)
46
Cleft Palate
Lateral palatine processes fail to fuse at midline; w/ or w/o cleft lip. USA- a challenge because of bony shadowing; use coronal and axial planes, 3D (use caution if patients can see abnormality before doctor has had a chance to counsel them)
47
Dandy-Walker Malformation
Agenesis or hypoplasia of cerebellar vermis; dilatation on the fourth ventricle and enlargement of the posterior fossa. USA- posterior fossa cyst, splaying of cerebellar hemispheres, enlarged CM, ventriculomegaly; cardiac anomalies, polydactyly, facial clefts, and urinary tract anomalies
48
Arnold Chiari Malformation
Banana-shaped cerebellum, displaced downward into the foramen magnum and lemon-shaped head resulting from the downward pull that occurs w/open spina bifida.
49
Holoprosencephaly
Abnormal cleavage of the prosencephalon (forebrain); 3 forms: alobar, semilobar, and lobar (most severe to mildest); prognosis poor; lethal; USA- C-shaped ventricle may/may not be enlarged; brain tissue w/a horseshoe shape surrounds monoventricle; fused thalamus w/absence of 3rd ventricle; absence of interhemispheric fissure; dorsal sac w/expansion of monoventricle posteriorly; absence of corpus callosum; absence of CSP
50
Hydroancephaly
Occlusion of the internal carotid arteries; brain parenchyma is destroyed and replaced by CSF; prognosis is grave w/death occurring at birth or shortly thereafter. USA- absence of normal brain tissue w/almost complete replacement by CSF; absent or partially absent falx; presence of midbrain, basal ganglia, and cerebellum; possible identification of choroid plexus; possible occurrence of macrocephaly
51
Microcephaly
Abnormally small head; 2 standard deviations below mean; brain is small. USA- BPD, occipitofrontal diameter, and HC should be used; small BPD; small HC; abnormal HC/AC and HC/FL ratios
52
Macrocephaly
Dandy Walker Malformation associated w/ other intracranial anomalies 50% of the time, including micro-and macrocephaly (enlarged head)
53
Micrognathia
small chin; associated w/chromosome anomalies, primary mandibular disorders, and Treacher Collins syndrome; polyhydramnios; airway obstruction at delivery. USA- fetal profile (subjective); mandible width measured in axial plane laterally from rami to rami; length (AP) assessed by measuring from the mentum of the mandible to the bisection of the lateral width line (objective)
54
Proboscis
Rare congenital anomaly; anterior appendage-like structure projects from the midline fetal face/forehead; associated w/several anomalies. USA- best seen w/ sag facial profile view as a snout-like protrusion from the face/forehead
55
Agenesis of Corpus Callosum
Absence CC (fibrous tract that connects the cerebral hemispheres and aids in learning and memory); USA- absence of corpus callosum; elevation and dilatation of 3rd ventricle; widely separated lateral ventricular frontal horns w/medial indentation of medial walls; dilated occipital horns (teardrop shape); absence of CSP
56
Colpocephaly
Dilated occipital horns that give the lateral ventricles a teardrop shape in agenesis of corpus callosum
57
Vein of Galen Aneurism
Rare arteriovenous malformation; vein of Galen enlarged; communicates w/normal-appearing arteries; male predominance; prognosis is poor. USA- cystic space located midline and posterosuperior to the 3rd ventricle; turbulent flow
58
Cephalocele
Meninges alone or meninges and brain herniate through a defect in the calvarium; often occipital midline; USA- extracranial mass-may be fluid-filled or contain solid components; bony defect in skull; ventriculomegaly; polyhydramnios
59
2 Vessel cord
Atrophy of one of the umbilical arteries in the early development stage; associated w/congenital anomalies, increased incidence of IUGR, increased perinatal mortality, increased incidence of chromosomal abnormalities. USA- 2-vessel cord; often appears straight; visualization of 1 umbilical artery alongside bladder; may also see a discordant in size between the 2 arteries w/color Doppler
60
Cord Length
Normal cord is 40-60 cm in length; short umbilical cord measures 80cm and may be associated w/polyhydramnios, nuchal cord, true cord knots, umbilical cord compression, presentation, prolapse, and umbilical cord stricture/torsion; normal umbilical diameter is from 2.6 to 6.0 cm
61
True Cord Knots
Single or multiple, increased incidence of congenital anomalies; associated w/long cords, polyhydramnios, IUGR, and monoamniotic twins. USA- a flattening or dissipation of Wharton’s jelly seen w/venous congestion distal to the knot and vascular thrombi w/in the cord; absence of blood flow w/in the umbilical cord
62
False Cord Knots
Blood vessels are longer than the cord, they are often folded on themselves and produce nodulations on the surface of the cord. USA- cord surface nodulations; color Doppler shows flow not completely constricted
63
Placental Abruption
Separation of a normally implanted placenta prior to term delivery; bleeding occurs; clinically: vaginal bleeding, abdominal or back pain, preterm labor, fetal distress or demise, and UT irritability. USA- acute abruption w/ultrasound is not sensitive, as the hemorrhage may have the same echogenicity as the placenta
64
Placenta Previa
Implanted placenta over the internal cx os (normally in body or fundus of the UT); Types: 1) complete or total previa, 2) partial previa, 3) marginal previa (placental edge comes to the margin of the os), or 4) low-lying. Presents w/painless, bright red vaginal bleeding in the 3rd trimester. USA- placental tip in relation to the In os; overdistended maternal bladder may cause misinterpretation of a low-lying placenta- have them empty and reexamine. TV can be useful if there’s a question of previa transabdominally
65
Vasa Previa
Life-threatening; large fetal vessels run in the fetal membranes across the cx os- vessels at risk of rupture and hemorrhage. Two most common: 1) velamentous insertion of umbilical cord into placental membranes, which cross over the cx, and 2) when a succenturiate lobe is present and the connecting vessels traverse the cx. USA- The implanted fetal umbilical vessels are seen to cover the cx; color Doppler useful
66
Velamentous Cord Insert
AKA membranous; inserts into the membranes, not directly into the placenta; thrombosis, cord rupture, vasa previa; USA- placental CI to a site outside the placenta; color Doppler
67
Succenturiate Placenta
1 or more accessory lobes connected to the body of the placenta-by-placenta vessels; may create placenta previa or be retained after delivery; USA- discrete lobe has “placenta texture” but is separate from main placenta; may be as large as or smaller than the main lobe; placental cord insertion is usually on the main placenta
68
Battledore Cord Insert
Aka marginal; Eccentric insertion into edge of placenta; USA-placental CI on edge; may be near the internal os
69
Placenta Accreta
Placental invasion; chorionic villi attach to the myometrium w/o muscular invasion; USA-loss of subplacental hypoechoic zone (myometrium)
70
Placenta Increta
Placental invasion; further extension of the chorionic villi into the myometrium; USA-loss of subplacental hypoechoic zone (myometrium)
71
Placenta Percreta
Placental invasion; penetration of the chorionic villi through the UT; USA-loss of subplacental hypoechoic zone (myometrium)
72
Chorioangioma
Benign vascular tumor of placenta; 2nd most common tumor; USA- circumscribed solid (hypo- or hyperechoic) or complex mass protrudes from placenta
73
Situs inversus
Total reversal of thoracic/abdominal organs; infant has normal outcome. USA- transposition of heart/aorta and abdominal organs
74
Partial Situs Inversus
Partial reversal of organs; more severe; usually thoracic reversal; asplenia and polysplenia; USA- right-side stomach, left-side liver; dextrocardia w/normal stomach position
75
UPJ
Obstruction at junction of renal pelvis and ureter; usually unilateral. USA- dilated anechoic renal pelvis; renal pelvis may be bullet shaped, surrounded by dilated or normal calyces
76
UVJ
Obstruction at junction of ureter and bladder; hydronephrosis and dilated ureter; USA- anechoic dilation of renal pelvis and tortuous fluid filled dilated ureter
77
PUV
Obstructed posterior urethra; urine can't pass through the urethra into amniotic fluid; hydronephrosis, hydroureters, dilated bladder and posterior urethra; complete, partial, or intermittent. USA- severe bladder dilatation, massive hydronephrosis w/dysplastic changes in kidneys, dilated tortuous ureters, and oligohydramnios; thickened bladder wall w/dilated posterior urethra “keyhole sign"
78
Ureterocele
Cystic dilation of distal ureter; USA- anechoic cystic mass surrounded by a thin echogenic membrane within the bladder; associated ureter dilated, tortuous, and connects to the bladder in an abnormal location.
79
Renal Agenesis
Absence of the kidney(s); unilateral or bilateral (Potter’s syndrome and lethal); USA- kidney or kidneys not visualized; examine for ectopic/pelvic kidney; adrenal gland may mimic absent kidney-hypoechoic w/echogenic center; bilateral agenesis-absence of the bladder.
80
Ductus Venosus
Shunts oxygenated blood from umb vein to IVC; closes after birth; USA- thin intrahepatic channel w/echogenic walls branching from umb vein
81
Ligamentum Venosum
Remnant of ductus venosus after closure at birth
82
PROM Premature Rupture of Membranes
Membranes rupture “water breaks” abnormally, resulting oligohydramnios; sudden gushing or leaking of fluid; USA- document the integrity of the placenta, fetal size, AFI, fetal well-being, and fetal Doppler studies
83
Infantile Polycystic Kidney Disease
Aka ARPKD; affects both fetal kidneys and liver; small cysts in both kidneys and liver; USA- collecting tubules dilated; kidneys are massively enlarged- may not occur until GA week 24; enhanced renal tissue echogenicity; oligohydramnios; small/absent bladder
84
Craniosynostosis
Premature closure of any or all 6 cranial sutures; USA- misshapen cranium
85
Fetal teratoma
USA- may have complex (cystic, solid, echogenic) appearance; color
86
Fetal goiter
USA- symmetrical, solid, homogeneous mass in anterior fetal neck region (fetal thyroid); esophagus may be obstructed w/large goiter w/hyperextended fetal neck; hydramnios; small or absent stomach
87
Branchial Cleft Cyst
Persistent dilatation of remnant branchial cleft; Cysts anywhere along pharyngeal wall to the skin, laterally and inferiorly between internal and external carotid arteries; frequently at angle of the mandible; USA- round, anechoic or hypoechoic structure; posterior enhancement
88
Macroglossia
Large tongue in Beckwith-Wiedemann syndrome. USA- enlarged tongue seen protruding from mouth.
89
Hypotelorism
Decreased distance between orbits; associated w/Holoprosencephaly, microcephaly, craniosynostoses, and phenylketonuria (PKU). USA- may appear as single orbit or fused eye (as in cyclopia); measure orbital width
90
Hypertelorism
abnormally wide-spaced orbits; found in several abnormal fetal conditions, genetic syndromes, and chromosomal anomalies. USA- measure orbital distances- falls above normal ranges for GA
91
Microphthalmia
Small eyes; USA- evaluated TV in transverse section of fetal skull at orbital plane
92
Microrhinia
abnormal smallness of nose
93
Cebocephaly
rare midline craniofacial anomaly w/single nostril w/proboscis-like nose and hypotelorism
94
Schizencephaly
Clefts in the cerebral cortex; unilateral or bilateral; open-lip or closed-lip defects in the area of the sylvian fissure; USA- fluid-filled cleft in the cerebral cortex extending from the ventricle to the calvarium; ventriculomegaly
95
Cyclopia
Only one eye that is centrally placed in area normally occupied by root of the nose. USA- appears as single orbit in center of face
96
Arachnoid Cyst
USA- intracranial cyst w/regular contuours displacing/compressing cortex
97
Adenomatoid Malformation
CCAM; multicystic mass within the lung; USA- cystic structures may communicate w/bronchial tree; mediastinal shift; assess the size of the lungs; fetal Hydrops; Varies by type: type I-single or multiple large cysts (2cm), type II-multiple small cysts (less than 1cm), echogenic, type III-large, bulky noncystic lesions w/mediastinal shift
98
Bronchogenic Cyst
Most common lung cyst prenatally; lack communication w/the trachea or bronchial tree; within the mediastinum or lung. USA- small, circumscribed masses w/no evidence of a mediastinal shift or heart failure; AFI w/in normal range
99
Pulmonary Hypoplasia
Reduced lung volume; prolonged oligohydramnios or secondary to a small thoracic cavity; USA- thoracic measurement; small, echogenic lungs lateral to cardiac chambers; chromosomal anomalies (renal, IUGR, masses, etc.)
100
Pulmonary Sequestration
Extra lobe of lung, separated from the normal tracheobronchial tree; nonfunctional. USA- echodense solid, cone-shaped or triangular mass resembling lung tissue; usually in the lower lobe of the lung; mostly on left side and rarely below the diaphragm
101
Fetal Pleural Effusion
aka Hydrothorax; Fluid w/in the pleural cavity; USA- anechoic masses on one or both sides of the fetal heart; conform to thoracic cavity; compress lung tissue and heart; lung appears to float in fluid; rarely encountered before the 15th week
102
Beckwith-Wiedemann Syndrome
Coexistence of an omphalocele, macroglossia, and visceromegaly. USA- presence of an omphalocele, growth acceleration, macroglossia, and visceromegaly; polyhydramnios may be present in 3rd trimester
103
Cloacal Exstrophy
Ectopic bladder w/2hemi-bladders separated by intestinal mucosa; USA- soft tissue mass w/anterior wall defect
104
Ectopic Bladder
Defect in lower abdominal wall and anterior wall of the urinary bladder; everted bladder becomes exposed; USA- normal urinary bladder not visible w/US; soft tissue mass, representing exposed bladder mucosa seen on the surface of abdominal wall defect
105
Limb-body Wall Complex
Amnion does not cover the umbilical cord normally but extends as sheet; associated w/large cranial defects (Exencephaly or encephaloceles), facial cleft, body, wall, and limb defects; left side more common; USA- large abdomen and thorax defects; eviscerated organs form complex, bizarre-appearing mass entangled w/membranes; umbilical cord is short and adherent to the placental membranes
106
Choledochal Cyst
Dilation of the CBD; USA- cystic mass attached to the bile duct near the gallbladder; ovoid RUQ cyst w/an entering bile duct; absence of peristaltic activity in the cyst.
107
VACTERL association
Vertebral, Anal, Cardiac, Tracheo Esophageal, Renal, Limb defects; USA- anomalies exist in 50-70% of fetuses; IUGR is present in 40% of cases
108
Anorectal Atresia
Imperforate anus (membrane covers anus prohibiting the expulsion of meconium). USA- Dilated colon and calcified meconium; AFI typically normal (or decreased if associated renal problems)
109
Prune Belly Syndrome
3 features: cryptorchidism (undescended testicle), agenesis/hypoplasia of abdominal wall muscle , and dilatation of the collecting system; Eagle-Barrett syndrome; seen mostly in males. USA- dilated bladder and ureters w/hydronephrosis; oligohydramnios; distended abdomen compared to small thoracic cavity; absent abdominal musculature
110
Potter's Syndrome
Bilateral renal agenesis; “Potter’s faces" (flat nose, recessed chin, abnormal ears, and wide-set eyes) and abnormal or malpositioned limbs; USA- absence of both kidneys and bladder; oligohydramnios; fetus held in limited positions
111
Fetal Hydronephrosis
Dilation of the renal pelvis; commonly from obstructed ureter, bladder, or urethra; bilateral or unilateral; USA- true cross section through the mid renal pelvis w/AP diameter; parenchyma may appear thin
112
Fetal Ovarian Cysts
Benign Ov mass resulting from maternal hormones; USA- anechoic or hypoechoic mass in abdomen or lower pelvis of fetus; may have complex or solid appearance
113
Short-rib Polydactyly Syndrome
Lethal; short ribs, short limbs, and polydactyly. USA- micromelia; narrow thorax; facial cleft; polydactyly. Dist. Charac: facial anomalies; polydactyly
114
Thanatophoric Dysplasia
Severe, lethal dwarfism; most common lethal skeletal dysplasia; USA- severe micromelia (abnormally small and imperfectly developed extremities), macrocephaly, cloverleaf skull, narrow thorax. Dist. Charac: cloverleaf skull
115
Congenital Hypophosphatasia
Diffuse hypomineralization of bone; alkaline phosphatase deficiency; lethal; USA- Mild limb shortening; narrow thorax; limb fractures and bowing. Dist. Charac: hypomineralization of skull; fractures
116
Achondroplasia
Dwarfism; most common nonlethal skeletal dysplasia w/short, squat bones; USA- rhizomelia (short proximal limbs); macrocephaly; trident hands (short hands w/stubby fingers)
117
Osteogenesis Imperfecta
(Brittle Bones); rare disorder of collagen production; manifestations in teeth, skin, and ligaments; blue sclera (whites of eyes). USA- severe micromelia; generalized hypomineralization; narrow thorax; multiple fractures
118
Camptomelic Dysplasia
(Bent bones); lethal; bowing of long bones. USA- hypoplastic fibulas; long bone bowing; micrognathia; small thorax; talipes (clubfoot)
119
Rhizomelia
Short proximal limbs
120
Mesomelia
Shortened middle limbs (rad/ulna and tib/fib)
121
Micromelia
Shortening of entire extremity
122
Sirenomelia
Fusion of the lower extremities. USA- variable fusion of lower extremities; bilateral renal agenesis; oligohydramnios; single umbilical artery
