1
Q
What is aneuploidy?
A
An unbalanced set of chromosomes
2
Q
What is triploidy?
A
Presence of an additional set of chromosomes (69 total)
3
Q
What is Trisomy?
A
Presence of an extra chromosome
4
Q
What is autosomal dominant?
A
One parent is usually affected by trait and it is evident in each generation
5
Q
What is autosomal recessive?
A
Parents are usually unaffected and the trait may appear to skip a generation.
6
Q
What weeks do first trimester screening starts?
A
- 5- 13.5 weeks
- includes a NT ( >3 mm= abnormal ) ( inner to inner)
- Blood test of beta-hCG and PAPP-A
7
Q
Know about PAPP-A and beta hCG?
A
produced by trophoblastic tissue, low levels may indicate abnormal implantation, poor placentation or Trisomy 21.
8
Q
What weeks is Chorionic Villi Sampling done?
A
9 - 12 weeks
- samples placenta
9
Q
What is involved in a quad screen?
A
- maternal serum alpha feto protein (MSAFP)
- hCG
- unconjugated estriol (uE3)
- Inhibin-A
10
Q
What is AFP produced by?
A
Produced primarily by the fetal liver. Crosses placenta into maternal serum, can be easily identifiable.
11
Q
What are the labs for Turners Syndome? ( Trisomy 18)
A
- decreased MS-AFP
- decreased hCG
- decreased uE3
12
Q
What are the labs for Trisomy 21? ( Down syndrome)
A
- decreased MS-AFP
- increased hCG
- decreased uE3
- increased Inhibin A
13
Q
What weeks is a amniocentesis done?
A
- 16 weeks gestation
- evaluate fluid levels of AFP
14
Q
When does the blastocyst implant in the endometrium?
A
- 7 days after fertilization
- outer lining consists of trophoblasts, produces progesterone to extend life of corpus luteum
15
Q
What is a morula?
A
- located at isthmus
- enters uterus 4 days after fertilization
16
Q
What is a Blastomere?
A
- dividing fertilized ovum
- located within ampulla of fallopian tube
17
Q
What is hCG?
A
Glycoprotein produced by trophoblastic cells and later by placenta
- doubles every 2 - 3 days
- PLATEAUS AROUND 8 - 9 WEEKS, THEN DECLINES
18
Q
When does the heart start to beat?
A
by 6 weeks
19
Q
What is decidual basalis?
A
where the blastocyst implants; maternal contribution to placenta
20
Q
What is decidual capsularis?
A
closes over and surround the blastocyst
21
Q
What is the decidual parietalis/ decidua vera?
A
hormonal influence on the uninvolved endometrial tissue
22
Q
How much does the gestational sac grow per day?
A
1 mm / day
23
Q
What level does the hCG need to be to visualize a sac?
A
1000 - 2000 mIu/ml transvaginally
24
Q
When is a yolk sac visible?
A
- 5 weeks LMP
- should be seen by 7 weeks
25
What is the normal size of the yolk sac?
> 5.6 mm between 5 and 10 weeks
26
What is the most accurate method for dating a pregnancy?
CRL
27
How much does a embryo grow per day?
1mm/day
28
What is rhomboencephalon?
anechoic structure seen in posterior portion of embryonic/ fetal brain from the 8th to the 11th weeks part of normal development of CNS
29
When should the midgut herniate back into the embryo?
herniates through umbilical cord around 9 weeks
| - herniate back into the abdomen by 12 weeks
30
When is the cut off for termination of a pregnancy?
20 weeks
31
What is a complete abortion?
all products of conception is expelled
32
What is a incomplete abortion?
part of products expelled while some remain in uterus
33
What is a spontaneous abortion? (SAB)
Usually occurs 1-3 weeks after demise
- most occur before 16 weeks
- no known cause of the miscarriage: can be uterus, no corpus luteum, chromosomal abnormalities
34
What is a missed abortion?
presence of embryo without cardiac activity
35
What is a threatened abortion?
future of the pregnancy may be in jeopardy but pregnancy continues
36
What is an anembryonic pregnancy?
- AKA Blighted ovum
| - embryo does not develop or stops early and cannot be visualized
37
What is a septic abortion?
abortion with non sterile instruments or from infection or retained products of conception
38
What is an ectopic pregnancy?
implantation of fertilized ovum at any location other then endometrium
39
What is the most dangerous ectopic pregnancy location?
Cornual / interstitial
| - if ruptured, hemorrhage
40
What is gestational trophoblastic disease?
Abnormal proliferation of trophoblastic tissue
| - " molar pregnancy"
41
What is Choriocarcinoma?
Malignant metastatic gestational trophoblastic disease that can metastasize to lung, liver, brain, bone, GI tract, and skin
42
What is Gastroschisis?
protrusion of the intestines into amniotic cavity
- occurs lateral to umbilical cord insert to the right normally
- no membrane
43
What is an Omphalocele?
Intestines fail to return to abdomen covered by a membrane
- cardiac defects
- trisomy 13 and 18
44
What is bladder extrophy?
Exposure or protrusion of the bladder on anterior wall
- associated with genital
- bladder not visualized in 30 minutes
45
Esophageal Atresia
No stomach visualized
| - polyhydramnios
46
What is duodenal atresia?
" double bubble"
- cardiac and vertebral anomalies
- association with trisomy 21
47
What is meconium peritonitis?
Small bowel perforation in utero
| - fetal bowel obstruction caused by intestinal atresia
48
Hyperechoic bowel
Similar to or greater than echogenicity of bone
49
Ascites
Most commonly associated with hydrops fetalis
50
How much space should the fetal heart occupy?
1/3
51
What is the optimal time to evaluate the fetal heart?
18-24 weeks
52
Explain the fetal circulation
- Oxygenated blood from placenta to fetus through cord
- ductus venous bypasses liver to send blood to right atrium
- foramen ovale shunts some blood of RA to LA
- ductus arteriosus oxygen rich blood from pulmonary artery into aortic arch to circulate through fetus
53
What part of heart is closest to spine?
Left atrium
54
What is the degree in which the heart points?
45 degrees to left anterior chest wall
55
What ventricle does the RVOT arise from?
Right ventricle
56
Know about the Aortic Arch
- candy cane
| - head and neck vessels arise from arch
57
Know about ductal larch
- hockey stick
58
Know about Tracheal or 3 vessel view
Level of 4 chamber heart
Ensures orientation
59
What is a Ventricular Septal Defect? (VSD)
- most common defect postnatally
- incomplete closure of interventricular foramen and failure of membranous part of IV septum
- associated with other cardiac anomalies
60
What is Atrial Septal Defect? (ASD)
Any opening between atria is referred to as an atrial Septal Defect.
- most commonly ostium secundum defect
- associated with variety of cardiac and chromosome abnormalities
61
What is hypoplastic right heart syndrome?
Occurs due to pulmonary atresia with intact ventricle septum
- absent or very small RV
62
What is hypoplastic left heart syndrome?
Small left ventricle due to decreased blood flow into or out of left ventricle.
- absent or very small left ventricle
- hypoplastic or atretic mitral valve and aorta
- primary abnormalities: aortic stenosis
63
Know about transposition of the great vessels
Origins of great vessels are transposed so aorta arises from right ventricle and pulmonary trunk arises from left ventricle.
- parallel vessels DO NOT CROSS EACHOTHER
64
What is Truncus Arteriosus?
A single large vessel arises from the base of the heart instead of two separate outflow tracts
65
Why is ectopic cordis?
All or part of the heart is located outside of the fetal chest
- associated with omphalocele in Pentalogy of Cantrell
66
What is double outlet right ventricle?
Both the pulmonary artery and aorta arise from the right ventricle.
- associated with maternal diabetes, alcohol,
67
What is characterized as a cardiac tumor?
Rhabdomyomas, cardiac fibromas, myxomas, teratomas
- rhabdomyomas: tuberous sclerosis
68
What is a Atrioventricular (A-V) canal Defect?
AKA: Endocardial cushion Defect
- atrial and Septal defects from failure of the common AV orifice to separate into mitral and tricuspid valves, results in Defect in crux ( center) of the heart
- increased risk for trisomy 21
69
What is Tetralogy of Fallot?
VSD, overriding aorta, stenosis of right outflow tract (pulmonic stenosis), right ventricular hypertrophy
70
What is ebsteins anomaly?
Malformation of the tricuspid valve with low insertion, grossly enlarged right atrium
71
What is ventricular hypertrophy?
In utero hypertrophy is most commonly associated with cardiac outlet obstruction but may also be associated with maternal diabetes
72
What is cardiosplenic syndrome?
Asplenia and polysplenia are defects or lateralization
73
What is the normal ranges of the fetal heart beat in the first trimester?
Prior 6 weeks: 100-115
After 6 weeks - 8 weeks: 144-159
After 9 weeks: 120-160
- plateaus
74
What is a heart arrhythmia?
Arrhythmias can be due to premature ventricular contraction's (PVC) or premature atrial contractions PAC
- associated with maternal caffeine intake, cigarette smoking, alcohol
75
What is Tachycardia?
Heartbeat greater than 180 BPM
76
What is Bradycardia?
Fetal heart be less than 100 BPM
- Heartbeat less than 80 BPM equals poor prognosis
77
What is pleural effusion?
Most commonly diagnosed fetal intrathoracic abnormality isolated or in association with other abnormalities like hydrops fetalis
78
What is a congenital diaphragmatic hernia (CDH)?
– CDH is the most common developmental abnormality of the diaphragm
Two sites: Bochdalek and morgagni
– Mediastinal shift's is most recognizable sonographic feature
79
What is pulmonary sequestration?
Uncommon malformation in which a mass of nonfunctioning pulmonary tissue separate from the long. This mass receives its blood supply from the systemic circulation (aorta ) and not does not communicate with the bronchial tree
80
What is congenital cystic adenomatoid malformation/congenital pulmonary airway malformation?
Unilateral condition characterized by the replacement of normal long parenchyma by abnormal tissue, which often includes visible cysts
- type one: one or more large cysts > 2cm
- type 2: multiple small cysts <1-2 cm
- Type 3: multiple small cysts, too small to be resolved by ultrasound beam so lung appears hyperechoic
81
When does the neural tube close?
Six weeks
82
Which plane is the best to image for spina bifida?
Transverse
83
The atrium of the lateral ventricle needs to measure less than?
Less then 10 mm
84
What is the proper measurement of the cisterna magna?
Normal > 3 mm
| Abnormal < 10 mm
85
When do neural tube defect's occur?
When the neural tube fails to completely close by six weeks gestation
86
What is anencephaly?
Congenital absence of the cerebral hemispheres and cranial vault
- fetal cranium should be identifiable by 12 weeks, 15 weeks at the latest
87
What is acrania (exencephaly)?
A crania is the developmental abnormality in which the cranium is partially or completely absent with the development of abnormal brain tissue
- this Lethal anomaly has elevated levels of MS – AFP
88
What is a encephalocele? (Cephalocele)
Herniation of brain and meninges or meninges in CSF through a cranial defect
- associated with Meckel-Gruber syndrome
89
What is spina bifida?
Spina bifida is a general term for lack of closure of the vertebral column
- Meningocele: herniation of meninges and CSF through a spinal Defect
- meningomyelocele: herniation of meninges and neural elements through spinal Defect
90
What is Arnold Chiari malformation?
- lemon shape head
- banana sign cerebellum
- hydrocephalus - ventricle >10 mm
91
What is Iniencephaly?
Rare malformation in which the occiput is fused to the cervical region
92
What is ventriculomegaly/hydrocephalus?
Dilatation of the ventricular system secondary to an increase in the volume of cerebrospinal fluid
93
What is holoprosencephaly?
Absent or incomplete diverticulation of the forebrain into the cerebral hemispheres and lateral ventricles
Trisomy 13
94
What is the most severe type of holoprosencephaly?
Most severe is Alobar
- Semi lobar
- lobar ( least severe form)
95
What is hydranencephaly?
Destructive disorder due to bilateral internal carotid artery occlusion or malformation
- total lack of cerebral hemispheres with intact and normally developed meninges and skull
96
What is Dandy-Walker malformation?
Complete or partial absence of cerebellar vermis and posterior fossa cystic dilatation communicating with the 4th ventricle
- 80% hydrocephalus fetuses
97
Agenesis of Corpus Callosum
Development of the corpus callosum should be complete by 20 weeks
- can be complete or partial can be associated with chromosomal or other anomalies
98
What is vein of Galen aneurysm?
Rare arteriovenous malformation causing increased flow through vein of Galen
99
What are choroid plexus cysts?
Small cysts within the choroid plexus are common.
- trisomy 18
100
What is the most common intracranial tumor?
Teratomas are most common lesions
- others: epidermoids, germinomas, glioastomas, craniopharyngomas
101
What is Lissencephaly?
Caused by abnormal migration of neurons
| - condition in which the brain lacks sulcu and gyri, appears smooth
102
What is Schizencephaly?
Malformation characterized by clefts in cerebral hemispheres in region of primary fissures
103
What is Porencephaly?
Presence of cystic areas within the cerebral parenchyma
104
What is a sacrococcygeal teratomas?
Tumor arises from coccyx and sacrum
Increased AFP
105
What is Caudal Regression Syndrome?
Includes a spectrum of skeletal anomalies of the lower spine and lower limb's, such as sacral aGenesis, lumbar spine or even lower thoracic aGenesis
- diabetic mothers
106
What is scoliosis and kyphosis?
Abnormal curvature of the spine may involve any segment, but most frequently the thoracolumbar region is affected
107
What is the measurement of the neck?
exceeds 6 mm between 15 and 21 weeks
108
What is hypotelorism?
Decreased intraorbital distance.
| - associated with syndromes and holoprosencephaly
109
What is hypertelorism?
Increased intraorbital distance
| - associated with anterior cephalocele and many symptoms
110
Facial clefting: Cleft lip and palate
- most common congenital facial abnormality
| - associated with multiple syndromes
111
What is a median cleft lip?
Midline malformation with/without cleft palate
| - goes along with holoprosencephaly
112
What is micrognathia?
small jaw
- associated with syndromes, chromosomal abnormalities
- trisomy 18
113
What is frontal bossing?
prominent forehead due to absent nasal bone
114
What is a epignathus?
Pharyngeal teratoma which protrudes from the fetal mouth
| - large complex cystic mass that may hyperextend the neck
115
What is a cervical teratoma?
on or around the neck. Complex cystic/solid mass near the fetal head
116
What is the nuchal fold/ nuchal thickening?
Increased soft tissue thickness at the posterior aspect of the neck
- trisomy 21
- > 6 mm, measured between 15-21 weeks
117
What is a cystic hygroma?
benign development anomaly of lymphatic system origin in which single or multiple cystic areas surround the neck
- large hygromas are associated with fetal hydrops
- Turners (18) and down syndrome
118
When can you see fetal kidneys?
12-14 weeks
| - appear hypoechoic
119
What are the measurements of the renal pelvis?
- 13-20 weeks: < 5 mm = normal
- 20-30 weeks: 5-10 mm = probably normal; follow up
- 30- term: > 10mm = 85% have anatomic anomaly
120
When can we start to see the fetal bladder?
as early as 10 weeks
| - routinely seen by 16 weeks
121
Know about adrenal glands
can mimic the kidney in cases of renal agenesis
- see a flat adrenal glad = no kidney
* adrenal glands take the shape of a kidney
122
What is renal agenesis?
absence of one or both kidneys
123
What is a unilateral renal agenesis associated with?
single umbilical artery
124
Know about bilateral renal agenesis?
- Potters syndrome
- consists of bilateral renal agenesis
- pulmonary hypoplasia
- face and limb deformities
* **** Oligohydramnios
125
What is Autosomal Recessive Polycystic kidney disease/ Potters syndrome type 1?
Inherited disorder characterized by symmetric renal enlargement by multiple small cysts
- cause enlargement of total renal size
- echogenic
126
What is Multicystic Dysplastic Kidney (MCDK) / Potters Type 2?
Obstruction of kidney during its development leads to formation of cysts which replace renal parenchyma
127
What is a Ureteropelvic Junction Obstruction (UPJ)?
most common cause of fetal hydronephrosis
- obstruction of urine flow from the renal pelvis into ureter
- bilateral severe obstruction, oligo will occur
128
What is a Ureterovesicular Obstruction?
- least common cause of hydro
129
What is a ureteral duplication with ectopic ureterocele?
Duplication of ureters, upper pole will insert ectopically and result in a ureterocele (herniation of distal ureter into bladder)
130
Know about Bladder Outlet Obstructions?
Most are found in male fetuses
- Males: PUV most common
- Females: cloacal malformation or urethral atresia
131
What is Posterior Urethral Valve Obstruction (PUV)?
Folds of the urethra act as valves and obstruct urinary flow
- "keyhole bladder"
- can have oligo
132
What is Urethral Atresia?
Complete obstruction as the urethra is absent.
- no amniotic fluid after 16 weeks
- pulmonary hypoplasia
133
What is a Cloacal Malformation?
Convergence of GI and genitourinary tracts. Single opening in perineum which empties both systems, can be obstructed
134
What is Prune Belly Syndrome?
- AKA: Eagle- Barrett syndrome
- weakened abdominal wall musculature in conjunction with massively dilated bladder, ureters, and kidneys
- most common cause is PUV
135
Normal findings in male fetuses....
- undescended testes: normally descend into scrotum between 26- 34 weeks gestation
- hydroceles: small hydroceles are common
- abnormal formation of penis
136
Normal findings in female fetuses....
Hydrometrocolpos
| - ovarian cysts
137
What is rhizomelia?
shortening of proximal segment of long bones
138
What is mesomelia?
Shortening of the middle segment of an extremity (Radius, ulna)
139
What is acromelia?
Shortening of distal segment (hand, foot)
140
What Is micromelia?
Shortened extremities
141
What is phocomelia?
Absent segment of an extremity
142
What is Amelia?
Complete absence of an extremity
143
What is polydactyly?
presence of more than five digits
144
What is syndactyly?
soft tissue or bony fusion of digits
145
What is characterized as severe micromelia?
when a long bone measures more than 4 SD below mean for gestational age
146
What is Thanatophoric Dysplasia?
- most common lethal dysplasia
- Cloverleaf Skull***
- severe micromelia
- hypoplastic thorax
- male dominance
147
What is Achondrogenesis?
Lethal form of short-limbed dysplasia
- Type 1: Autosomal recessive , most severe
- Type 2: Autosomal Dominant, less severe,
- ---------large head, small chest, cleft lip/palate, decreased cranial ossification
148
What is Osteogenesis Imperfecta Type 2?
Disorder of production, secretion or function of collagen, the earliest diagnosis of OI type 2 been reported at 1.5 weeks
- Fragile bones and fractured
- bell shaped thorax
149
What is congenital hypophosphatasia?
bone demineralization disorder resulting from low levels of serum and tissue alkaline phosphatase
- bowing of long bones
- increased echogenicity of falx cerebri
150
What is Campomelic Dysplasia?
Short bent or bowed long bones (lower extremity)
- narrow thorax
- CNS and renal anomalies
151
What is Homozygous Dominant Achondroplasia?
Rhizomelic dwarfism, limb bowing, lordotic spine and a bulky head
- possible cloverleaf head
* one parent has to have heterozygous achondroplasia
152
What is Short- Rib Polydactyly Syndrome?
Rare lethal dysplasia characterized by polydactyly and an extremely small thorax. Death results from respiratory insufficiency
- polydactyly
- narrow thorax
- micromelia
- cardiac, renal, cleft anomalies
153
What is heterozygous achondroplasia?
- non lethal
- most common form of genetic skeletal dysplasia
- FL short
- frontal bossing
154
Know about the other forms of osteogenesis imperfecta
- non lethal forms
- type 1: most common, femur bowing
- Type 4: not detected prenatally
155
What is Polydactyly?
More than the normal number of digits of the hand and foot
156
What is Arthrogryposis?
Part of fetal akinesia deformation sequence characterized by multiple joint contractures
- lack of fetal movement
- talipes bilaterally
- small thorax, polihydramnios
157
What is Radial Ray Abnormalities?
Hypoplasia or aplasia of the radius in seen in many syndromes and conditions
- Holt-Oram
- Thrombocytopenia- absent radius (TAR)
- trisomy 18
158
What is Clinodactyly?
Permanent curvature of 5th digit
- secondary to hypoplastic middle phalanx
- Trisomy 21
159
What is Syndactyly?
Fusion of digits
160
What is Clubfoot Deformity (Talipes)?
Can be genetic or environmental
- abnormal relationship between the tarsal bones and calcaneous
- Environment: Oligo, amniotic band, uterine tumors
161
What is Rocker Bottom Foot?
Bottom of feet appears "rocker bottom", or convexes outward
| - Trisomy 18 and other anomalies
162
What is Sirenomelia?
Lower extremity fusion and abnormal or absent foot structures
163
What are the functions of the placenta?
- conversion of fetal steroids to estrogen
- secretion of progesterone
- secretion of hCG
- exchange of oxygen, waste products, and nutrients between fetus and mother
164
What is the placenta formed by?
proliferation of chorionic villi (chorion frondosum) proliferate and the maternal decidua basalis
- functional units of the placenta are Cotyledon
165
What is a circumvallate placenta?
small central chorionic ring surrounded by thickened amnion and chorion
- may separate from uterine wall, threaten abortion
166
What is Circummarginate Placenta?
Central attachment of the membranes without a central ring
167
What is a Succenturiate Placenta?
Accessory Cotyledon with vascular connections to the main placenta
168
What is a Bipartite Placenta?
placenta divided into two lobes but united by primary vessels and membranes
169
What is annular placenta
Ring shaped placenta
170
What is considered placentaomegaly?
- Normal: < 5 cm AP
| - Placentomegaly: > 5 cm AP
171
What is a Placenta Previa?
Placenta tissue encroaching upon the cervix and/or crossing the internal os
- caused by low implantation of blastocyst
- diagnosed in third trimester best due to "placental migration"
172
What is a complete placenta previa?
placenta covers internal os completely
173
What is a partial previa?
placenta covering the internal os partially
174
What is a marginal placenta previa?
Placenta close to internal os but not covering the cervix
175
What is a low lying placenta?
placenta in lower uterine segment within 2 cm from internal os
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