OB II Final Review Flashcards

1
Q

Manual acquisition is also called which one of the following?

A

Free-hand acquisition

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2
Q

Three-dimensional (3-D) rendering that can look beyond the tissue surface is known as which one of the following renderings?

A

Transparent

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3
Q

Images rendered in 3-D are usually classified into which two groups?

A

Surface and transparent

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4
Q

The two main methods of acquisition are which of the following?

A

Manual and automatic

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5
Q

X-ray mode is also known as which one of the following?

A

Transparent mode

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6
Q

Small picture elements in a 3-D image are called which one of the following?

A

Voxels

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7
Q

Which one of the following statements about the fetal face is false?

A

The modified coronal view is best to image a cleft lip and palate. (this is false)

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8
Q

Extensive facial screening may be hindered by all of the following except:

A

Polyhydramnios

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9
Q

Craniosynostosis may be defined as which one of the following?

A

Premature closure of the cranial sutures

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10
Q

Which one of the following is the result from a malformation of the lymphatic system?

A

Cystic hygroma

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11
Q

Which one of the following statements about the facial profile is incorrect?

A

The facial profile has a strawberry-shaped cranium, which is described as a bulging of the occipital bones.(this is false)

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12
Q

Evaluation of the nasal triad should include all of the following except:

A

Nostril length

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13
Q

Which one of the following statements about cleft lip and palate is false?

A

A complete bilateral cleft lip and palate is a small gap in the left upper lip on the modified coronal view; the nose is flattened and widened.
(this is false)

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14
Q

Which one of the following statements about an epignathus is false?

A

Swallowing is not impaired in fetuses with epignathus.

this is false

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15
Q

The most common neck mass is which one of the following?

A

Cystic hygroma colli

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16
Q

What percentage of cystic hygromas is associated with chromosomal anomalies?

A

50

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17
Q

The bridge of the nose originates from the ____________ prominence.

A

Frontal

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18
Q

Proboscis suggests which one of the following abnormalities?

A

Holoprosencephaly

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19
Q

The optimal gestational age for measuring the nuchal translucency is _______ weeks.

A

10 to 14

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20
Q

The most common congenital anomaly of the face is which one of the following?

A

Cleft lip

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21
Q

Differential considerations for cystic hygroma include all of the following except:

A

Differential consideration for cystic hygroma includes meningomyelocele, encephalocele, nuchal edema, brachial cleft cyst, cystic teratoma, and thyroglossal cyst. NOT GOITER

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22
Q

Which one of the following terms describes a small chin?

A

Micrognathia

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23
Q

Which one of the following statements about facial anomalies is correct?

A

Facial anomalies occur as isolated defects or as part of a syndrome.

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24
Q

An elongated forehead in the sagittal plane and triangular in shape in the axial plane describes which one of the following abnormalities?

A

Trigonocephaly

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25
Q

Which one of the following statements about a fetal goiter is incorrect?

A

A fetal goiter appears heterogeneous.

this is false

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26
Q

Ear malformation may be observed in which one of the following?

A

Goldenhar syndrome

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27
Q

Cleft lip with or without cleft palate is seen more frequently in which one of the following groups?

A

Native Americans
Cleft lip with or without cleft palate is seen in 1 in 150 to 200 births in Native Americans; in 1 in 350 births in Asians; in 1 in 600 births in Caucasians; and in 1 in 3000 births in African Americans.

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28
Q

Congenital anomalies of the face occur in 1 in ______ births.

A

600

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29
Q

An isolated unilateral cleft lip defect commonly originates:

A

On the left side of the face

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30
Q

Which one of the following statements about neck teratomas is incorrect?

A

They are usually located posteriorly.

this is false

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31
Q

Which one of the following neural tube defects is characterized by a lack of development of the cerebral and cerebellar hemispheres and cranial vault and is an abnormality that is incompatible with life?

A

Anencephaly

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32
Q

What is Potters characterized by?

A

Renal agenesis
Oligo
Pulmonary hypoplasia
abnormal feet and hands

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33
Q

What are the classifications of cystic renal anomalies that Potters describes?

A

Type 1 : (AR) Infantile polycystic kidney
Type 2 : Adult multicystic dysplastic kidney
Type 3 : Adult polycystic kidney
Type 4 : Obstructive cystic

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34
Q

What is Multicystic dysplastic kidney disease?

A

Renal tissue replaced with cysts varying in size
Affected kidney nonfunctional
Most common in infants and neonates
Multiple non-communicating cyst

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35
Q

Which one of the following is the most severe form of holoprosencephaly, which is characterized by a single common ventricle and malformed brain? Orbital anomalies range from fused orbits to hypotelorism, with frequent nasal anomalies and clefting of the lip and palate.

A

Alobar

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36
Q

Which one of the following anomalies may be characterized by the presence of colpocephaly?

A

Agenesis of the corpus callosum

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37
Q

The absence of the cavum septi pellucidi is a distinguishing characteristic of which one of the following fetal anomalies?

A

Agenesis of the corpus callosum

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38
Q

Which one of the following defects is associated with Meckel-Gruber syndrome?

A

Encephalocele
Meckel-Gruber syndrome is characterized by an encephalocele, polydactyly, and polycystic kidneys. Anencephaly may result from a syndrome such as Meckel-Gruber.

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39
Q

Extrophy of the bladder

A

Occurs in males 1 in 50,000 births

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40
Q

What is extrophy of the bladder?

A

Protrusion of the posterior wall of the bladder which contain the trigone and ureteric orfices.

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41
Q

What causes extrophy of the bladder?

A

Defective closure of the inferior part of the abdominal wall durning 4th week gestation

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42
Q

Renal agenesis and infantile polycystic kidney are

A

Incompatible with life

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43
Q

Renal agensis

A

Absent of kidneys

Absent of AF due to no urine production

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44
Q

When do the fetal kidneys become a major contributor to the amniotic fluid

A

14-16 weeks

*observation of AF volume before 14-16 can not exclude renal agensis

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45
Q

With renal agensis what could the adrenal gland do?

A

Enlarge and mimic the kidney

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46
Q

Sono findings of Renal agensis

A

Severe oligo after 13-15 weeks
Persistent absent bladder
Failure to see kidneys
Abnormally small thorax

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47
Q

Facial anomalies in holoprosencephaly may represent all of the following except:

A

Hypertelorism

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48
Q

Which one of the following fetal head anomalies is characterized by the presence of a single primitive ventricle?

A

Holoprosencephaly

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49
Q

Which one of the following anomalies is characterized by the presence of a posterior fossa cyst and a splaying of the cerebellar hemispheres?

A

Dandy-Walker malformation

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50
Q

Which one of the following abnormalities is described as the congenital absence of the cerebral hemispheres resulting from an occlusion of the carotid arteries. The midbrain structures are present, and fluid replaces cerebral tissue.

A

Hydranencephaly

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51
Q

Ventriculomegaly is defined as lateral ventricular enlargement measuring greater than ____ millimeters (mm).

A

10

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52
Q

An open spinal defect characterized by a protrusion of meninges and spinal cord through the defect, usually within a meningeal sac, is called which one of the following?

A

Meningomyelocele

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53
Q

Conditions commonly associated with fetal hydrocephalus include all of the following except:

A

Choroid plexus cyst
Common causes of hydrocephalus include spina bifida, encephalocele, Dandy-Walker malformation, agenesis of the corpus callosum, holoprosencephaly, and aqueductal stenosis.

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54
Q

Ventriculomegaly coupled with an enlargement of the fetal head is called which one of the following?

A

Hydrocephalus

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55
Q

Which one of the following abnormalities is the most common open neural tube defect?

A

Anencephaly

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56
Q

Which one of the following fetal head anomalies is characterized by the presence of a single primitive ventricle?

A

Holoprosencephaly

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57
Q

A vein of Galen malformation is which one of the following abnormalities?

A

An aneurysm of the Galen vein

A rare arteriovenous malformation

A sporadic event

or ALL OF THE ABOVE

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58
Q

A form of holoprosencephaly characterized by a common ventricle, hypotelorism, and a nose with a single nostril is which one of the following?

A

Cebocephaly

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59
Q

Which one of the following statements about anencephaly is incorrect?

A

Anencephaly has a male prevalence.

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60
Q

Which one of the following statements about microcephaly is incorrect?

A

Microcephaly is an abnormally large head.

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61
Q

The differential considerations of anencephaly include all of the following except:

A

Arachnoid cyst

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62
Q

Which one of the following terms is used to describe the herniation of the meninges and brain through a calvarium defect?

A

Encephalocele

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63
Q

Differential considerations of Dandy-Walker malformation should include which one of the following?

A

Arachnoid cyst

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64
Q

What is Potters characterized by

A

Renal agenesis
Oligo
Pulmonary hypoplasia
abnormal feet and hands

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65
Q

What are the classifications of cystic renal anomalies that Potters describes

A

Type 1 : (AR) Infantile polycystic kidney
Type 2 : Adult multicystic dysplastic kidney
Type 3 : Adult polycystic kidney
Type 4 : Obstructive cystic

66
Q

What is Multicystic dysplastic kidney disease

A

Renal tissue replaced with cysts varying in size
Affected kidney nonfunctional
Most common in infants and neonates
Multiple non-communicating cyst

67
Q

What is Potters type 1 IPKD?

A

Each cyst not identified
Kidneys are enlarged due to dilated tubules
Dismal prognosis in severe IPKD
May occur as part of Meckel-Gruber or as a genetic syndrome

68
Q

What tests can be done during the first trimester of pregnancy for determining chromosomal abnormalities?

A

PAPP-A and free beta- hCG

These are used in conjuction with ultrasound to measure nuchal translucency

69
Q

What is the most common reason for hydronephrosis?

A

UPJ

70
Q

Where does the obstruction occur in UPJ?

A

At the junction between the renal pelvis and ureter

71
Q

UPJ is usually

A

Unilateral

72
Q

Causes of UPJ

A

Bends and kinks in ureter
Adhesion
Abnormal outlet shape of the UPJ
Absent longitudinal muscle

73
Q

What does PUV look like

A

Keyhole

74
Q

Posterior urethral valve occurs in

A

males

75
Q

Posterior urethral valve results in

A

Hydronephrosis
Hydroureters
Dilation of of bladder and posterior urethra

76
Q

Renal pelvic shouldn’t measure more than

A

4mm

77
Q

Urerocele

A

Cystic dilation of the distal ureter

78
Q

Why does hydronephrosis occurs

A

Response to blockage in the urinary system

79
Q

What is the most common fetal anomaly?

A

Hydronephrosis

80
Q

Quad screen

A

Used in early second trimester. Looks at AFP, hCG, unconjugated estriol, and dimeric inhibin-A

81
Q

What is chorionic villus sampling?

A

Ultrasound directed biopsy of the placenta or chorionic villi. This is an alternative test used to obtain a fetal karyotype by the culturing of fetal cells similar to an amniocentesis.

Used in early pregnancy (10-12 weeks)
Done transcervically or transabdominally
Risk of fetal loss is 1-3%

82
Q

What is an amniocentesis and what is the optimal collection site?

A

First was a technique to relieve polyhydramnios, predict Rh isoimmunization, and document fetal lung maturity. Now performed to determine karyotype as well.

Collection sites should be away from the fetus, placenta, umbilical cord, and near maternal midline to avoid maternal uterine vessels

83
Q

Alpha-Fetoprotein (AFP)

A

Major protein in fetal serum and is produced by the yolk sac in early gestation and later by the fetal liver.
Found in the fetal spine, GI tract, liver and kidneys.
Can be measured in maternal serum (MSAFP) or in amniotic fluid (AFAFP). Considered abnormal when high or low

84
Q

What is hydrops fetalis?

A

Condition in which excessive fluid accumulates within fetal body cavities.
May result from anasarca, ascites, pericardial effusion, pleural effusion, placental edema, and polyhydramnios

85
Q

What is nonimmune hydrops?

A

Extensive fluid accumulation but is unrelated to the presence of maternal serum IgG antibody

86
Q

Sono findings of hydrops

A
Scalp edema
Pleural effusion
Pericardial effusion
Ascites
Poly
Thickened placenta

Can be caused by fetal anemia

87
Q

Trisomy 21 or Down’s Syndrome

A

-Most common chromosomal disorder (1 in 600 births)
-Associated with AMA
-Sono associations:
Heart defects
Clenched hands
Omphalocele
Micrognathia
Talipes
Choroid plexus cyst
Congenital diaphragmatic hernia
Cerebellar hypoplasia
Meningiomylocele
SGA
IUGR and hydramnios

88
Q

Trisomy 18 or Edwards syndrome

A

-Extra chromosome 18, second most common chromosomal abnormality (3 in 10,000 births)
-Sono associations:
Heart defects
Clenched hands
Omphalocele
Micrognathia
Talipes
Choroid plexus cysts
Renal anomalies
Cleft lip/palate
CDH
Cerebellar hypoplasia
Meningomyelocele
SUA
IUGR and hydramnios

89
Q

Trisomy 13 or Patau’s syndrome

A

-Extra chromosome 13, 1 in 5000 births, Fetus is affected by holoprosencephaly 40% of the time
-Sono associations:
Heart defects
Omphalocele
Polydactyly
Talipes
Cleft lip/palate
Renal anomalies
Meningomyelocele
Micrognathia
Holoprosencephaly

90
Q

Turner’s Syndrome

A

-Occurs in females only
-Not very good prognosis-high risk for in utero demise
-Those who do survive have ovarian dysgenesis and short stature
-Sono associations:
Cystic hygroma
Heart defects
Coarctation of aorta
Hydrops
Renal anomalies

91
Q

Triploidy

A

-Complete extra set of chromosomes
-Often results in one ova being fertilized by two sperm
-Vast majority spontaneously abort prior to 20 weeks
-Sono associations:
Heart defects
Omphalocele
Renal anomalies
Cranial defects
Facial defects

92
Q

VACTERL

A

Group of anomalies that may occur together

V ertebral defects
A nal atresia
C ardiac anomalies
T ransesophageal fistula
R enal anomalies 
L imb dysplasia
93
Q

Skeletal Dysplasia means

A

Abnormal growth and density of bone and cartilage.

94
Q

Rhizomelia

A

Shortening of the proximal bones

Humerus, Femur

95
Q

Mesomelia

A

Shortening of the distal bones

Radius, Ulna, Tibia, Fibula

96
Q

Micromelia

A

Shortening of all long bones

97
Q

Sono findings of Thanatophoric

A
Rhizomelia
Bowed long bones
Narrow thorax
Normal truck length
Large head
Frontal bossing
Hypertelorism
98
Q

What are the complications of a diabetic mother?

A
  • Increased risk for pregnancy-related complications, such as early and late trimester pregnancy loss and congenital anomalies
  • Frequent hospitalizations for glucose control, serious infections such as pyelonephritis, and problems at time of delivery
99
Q

Sono findings of a diabetic mother

A
  • Increased risk of early demise and risk of 3rd trimester loss
  • Poly
  • Caudal regression syndrome (only seen in diabetic mothers)
  • Neural tube defects, congenital heart defects
  • Renal anomalies, GI defects, single umbilical artery
100
Q

What are the risks of hypertension in pregnancy?

A
  • Occurs frequently in high risk populations
  • Places the mother and fetus at risk
  • May be associated with small placentas because of the effect of the hypertension on the blood vessels
  • Preeclampsia and eclampsia
101
Q

What is preeclampsia?

A

High blood pressure develops with proteinuria or edema. Patient may develop seizures that can be life-threatening to both the mother and fetus.

102
Q

What is eclampsia?

A

Occurrence of seizures or coma in a preeclamptic patient

103
Q

When does the division of the zygote take place in a monoamniotic, monochorionic pregnancy?

A

After 8 days of conception

104
Q

Uterine fibroids can cause what?

A

Pain or premature labor (delivery complications can occur depending on the location of the fibroid)

105
Q

What is premature labor?

A

Onset of labor prior to 37 weeks of gestation

106
Q

When does the division of the zygote take place in a diamniotic, dichorionic pregnancy?

A

Within the first three days of conception

107
Q

What is fetus papyraceous mean?

A

If the fetus dies after reaching a size too large for resorption, the fetus becomes flattened from loss of fluid and most of its soft tissue

108
Q

What are dyzygotic twins?

A

Fraternal twins

  • Arise from two separately fertilized ova
  • Each ovum implants separately in the uterus and develops its own placenta
109
Q

What are monozygotic twins?

A

Identical

  • Arise from a single fertilized egg, which divides, resulting in 2 genetically identical fetuses
  • Very high-risk situation (increased risk for twin to twin transfusion)
  • Depending on whether fertilized eggs divide early or late, there may be 1 or 2 placentas, chorions and amniotic sacs
110
Q

What are the five types of conjoined twins?

A
  1. Thoracopagus- joined at thorax
  2. Omphalopagus- joined at anterior wall
  3. Craniopagus- joined at cranium
  4. Pyopagus- joined at ischial region
  5. Ischiopagus- attached at buttocks
111
Q

Poly-oli Sequence (“stuck twin” syndrome) is what?

A

DIamniotic pregnancy with poly in one sac and severe oligo and smaller twin in the othetr sac. This occurs around 16-26 weeks gestation

112
Q

What is twin to twin transfusion?

A

When there is an arteriovenous shunt within the placenta meaning arterial blood from one twin is pumped into the venous system of the other.

  • Donor twin: anemic, growth is restricted, less blood flow thru its kidneys, urinates less, develops oligo
  • Recipient twin: too much blood, may be normal/large in size, excess blood flow to thru the kidneys, urinates too much, poly, may go into heart failure and become hydropic
113
Q

What is an acardiac anomaly?

A

Rare, occurs in monochorionic twins

One twin develops without a heart and often without an upper half of the body

114
Q

What does the ductus venosus turn into after birth?

A

Ligamentum venosum

Forms about 2 weeks after birth

115
Q

Achrodroplasia

A

Most common nonlethal skeletal dysplasia
80% of the cases are spontaneous mutation
Decreased endochondral bone formation which produce short squat bones

116
Q

What is osteogenesis imperfecta

A

Disorder of the collagen production leading to brittle bones
1 in every 20,000 to 30,000 births it occurs

117
Q

What is osteogenesis imperfecta type 2

A
Most severe lethal outcome
Autosomal recessive or dominant
Numerous fractures
Normal bone echogenicity
Moderate femur shortening
1 in every 60,000 births
Decreased mineralization of bone especially in the calvarium
118
Q

What is Jeunes

A
Narrow thorax
Rhizomelia
Renal dysplasia
Polydactyly
1 in every 70,000 births
Autosomal recessive
Ranges in severity with most severe results in death due to pulmonary hypoplasia
119
Q

What are some predisposing conditions to cord prolapse?

A

Abnormal fetal presentation,
Nonengagement of fetus due to prematurity,
Long umbilical cord,
Abnormal bony pelvic inlet,
Leiomyomas,
Polyhydramnios,
Vasa previa,
Velamentous insertion of the cord,
Marginal insertion of cord in low lying placenta,
Incompetent cervix with premature rupture of membranes.

120
Q

Rocker bottom foot characteristics

A

Prominent heel and convex sole

121
Q

What is Ellis-Van Creveld

A

Occurs in 200,000 births
More frequent in Amish community
Autosomal recessive
Also known as chondoectodermal dysplasia

122
Q

Sono findings of Ellis-Van Creveld

A
Limb shortening
Polydactly
Heart defects (50%)
May have narrow thorax
Death up to 50%
Survivors are short with normal intellect
123
Q

Which two structures fuse together to make the umbilical cord?

A

Omphalomesenteric (yolk stalk) and allantois ducts

124
Q

What is the normal length of the umbilical cord?

A

40-60 cm

125
Q

What are bronchogenic cysts?

A

Abnormal budding of the foregut and lack any communication with the trachea or bronchial tree.

Occur within mediastinum or lung.

Amniotic fluid volume is normal

Most common lung mass

126
Q

The cord includes how many arteries and veins?

A

2 arteries

1 vein

127
Q

What is the length of a short cord?

A

less than 35 cm

128
Q

What is the length of a long cord?

A

Greater than 80 cm

129
Q

What are the two types of diaphragmatic hernias and where are each of them located?

A

Foramen of Bochdalek (most common)= posteriorly and laterally, left

Foramen of Morgagni= anteriorly and medially

130
Q

What are some associations with Velamentous placental cord insertion?

A
Higher risk of lower birth weight
Small for gestational age
Preterm delivery
Low Apgar scores
Abnormal intrapartum fetal heart rate pattern
131
Q

What are some predisposing conditions to cord prolapse?

A

Abnormal fetal presentation,
Nonengagement of fetus due to prematurity,
Long umbilical cord,
Abnormal bony pelvic inlet,
Leiomyomas,
Polyhydramnios,
Vasa previa,
Velamentous insertion of the cord,
Marginal insertion of cord in low lying placenta,
Incompetent cervix with premature rupture of membranes.

132
Q

What is the most important determinant for fetal viability?

A

Pulmonary development

133
Q

What 3 things do we look at in the fetal chest?

A

Size
Shape
Symmetry

134
Q

What is the normal degree of a cardiac axis?

A

22-75 degrees

45 degrees being average

135
Q

What is amniotic band syndrome?

A

The rupture of the amnion, which leads to entrapment/entanglement of the fetal parts by the “sticky” chorion. Early entrapment may lead to severe craniofacial defects and internal malformations. Late entrapment leads to amputations or limb restrictions.

136
Q

What is CCAM(Congenital Cystic Adenomatoid Malformation)

A

Multi cystic mass within the lung consisting of primitive lung tissue and abnormal bronchial and bronchiolar-like structures
Type 1: macro cystic
Type 2: macrocystic w/ microcystic
Type 3: microcystic

137
Q

The severity of pulmonary hypoplasia depends on ____.

A

When pulmonary hypoplasia occurred during pregnancy, its severity, and its duration.

Prognosis is grave; 80% die after birth

138
Q

What is pulmonary hypoplasia?

A

Reduction in lung volume resulting in small, inadequately developed lungs

Most commonly occurs from prolonged oligo or secondary to small thoracic cavity

139
Q

If you see pleural fluid, you should be looking at what structure very carefully?

A

Lung, Heart, and Diaphragmatic lesions.

140
Q

A big pleural effusion could cause ____.

A

Impairment of the lungs, which may result in pulmonary hypoplasia

141
Q

What are the coexisting anomalies that you may find with esophageal atresia? How often do these anomalies occur?

A

Coexisting anomalies occur in 50-70% fetuses

```
Anomalies include:
Anorectal atresia
Vertebral defects
Heart defects
Renal Anomalies
Limb Anomalies
VACTERL
~~~

142
Q

Normal embryologic herniation of the bowel allows what to occur?

A

it allows the abdominal cavity to catch up to the midgut. The midgut grows fast than the abdominal cavity. Intestines return by 11th or 12th week gestation.

143
Q

What is omphalocele?

A

Congenital anterior abdominal wall defect in which abdominal organs (Liver, bowel, stomach) are atypically located within the umbilical cord and protrude outside the wall; develops when there is a midline defect of the abdominal muscles, fascia, and skin; covered in a membrane consisting on amnion and peritoneum

144
Q

What are the associated anomalies of omphalocele?

A

Complex cardiac disease (50-70%),

GI, neural tube, and genitourinary tract anomalies (30-50%)

145
Q

What is gastroscchisis?

A

Congenital defective opening in the wall of the abdomen just to the right of the umbilical cord; bowel and other organs (stomach and genitourinary organs, infrequently) may protrude outside the abdomen from this opening

146
Q

Gastroschisis is a consequence of atrophy of what structure?

A

Right umbilical vein or a disruption of the omphalomesenteric artery

147
Q

What is limb- body wall complex?

A

Anomaly associated with large cranial defects, facial clefts, body wall complex defects involving thorax, abdomen, or both, and limb defects. Occurs with the fusion of the amnion and chorion; amnion doesn’t cover the umbilical cord normally but extends as a sheet from the margin of the cord and is continuous with both the body wall and the placenta.

148
Q

Limb-body wall defects are more common on which side?

A

Left-side defects are three times more common than right

149
Q

Which classification of osteogenesis imperfecta is most severe?

A

Type 2

150
Q

What is pseudoascites?

A

Sonolucent band near the fetal anterior abdominal wall found in fetuses over 18 weeks gestation

151
Q

What is duodenal atresia (double bubble)?

A

Blockage of the duodenal lumen by a membrane that prohibits the passage of swallowed amniotic fluid

Most cases are found below the ampulla and often coexist with annular pancreas

152
Q

What percentage of fetuses with duodenal atresia have trisomy 21?

A

30%

153
Q

What is thanatophoric dysplasia?

A

Lethal short-limb dwarfism (most common) characterized by a marked reduction in the length of the long bones, pear-shaped chest, soft tissue redundancy, and frequently clover-leaf skull deformity and ventriculomegaly

Sono findings:

  • Bowed long bones
  • Narrow thorax with normal trunk length
  • Large head size
  • Severely flattened vertebral bodies (platyspondyly)
  • Frontal bossing
  • Hypertelorism
154
Q

What is the most common nonlethal skeletal dysplasia?

A

Achondroplasia

155
Q

What might we be looking at if we see multiple fractures and a compressed calvarium?

A

Osteogenesis Imperfecta

156
Q

What is the congenital collagen production disorder?

A

Osteogenesis Imperfecta

157
Q

A small thorax, rhizomelia, renal dysplasia, and polydactyly describe ___.

A

Jeune’s Syndrome

158
Q

Clubfoot

A

1 in 400 births

Male predominance

More than 1/2 the cases are unilateral

159
Q

Talipes

A

Majority of cases are idiopathic and isolated findings

160
Q

Rocker-bottom foot

A

Characterized by prominent heel and convex sole

Associated with multple syndromes and chromosomal anomalies (especially trisomy 18)

161
Q

What is the anomaly associated with the Amish community?

A

Ellis-Van Creveld syndrome (Chondectomdermal dysplasia)

162
Q

Sono findings of Spina Bifida

A
  • Splaying of posterior ossifaction centers with a V or U configuration
  • Protrusion of saclike structure that may be anechoic (menigocele) or contain neural elements (myelomeningocele) -Cleft in skin
  • Lemon shape head
  • Obliteration of cisterna magna
  • “Banana shape” cerebellum
  • Ventriculomegaly