OB Pathology Flashcards

1
Q

What is aneuploidy?

A

An unbalanced set of chromosomes

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2
Q

What is triploidy?

A

Presence of an additional set of chromosomes (69 total)

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3
Q

What is Trisomy?

A

Presence of an extra chromosome

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4
Q

What is autosomal dominant?

A

One parent is usually affected by trait and it is evident in each generation

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5
Q

What is autosomal recessive?

A

Parents are usually unaffected and the trait may appear to skip a generation.

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6
Q

What weeks do first trimester screening starts?

A
  1. 5- 13.5 weeks
    - includes a NT ( >3 mm= abnormal ) ( inner to inner)
    - Blood test of beta-hCG and PAPP-A
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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.

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8
Q

What weeks is Chorionic Villi Sampling done?

A

9 - 12 weeks

- samples placenta

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9
Q

What is involved in a quad screen?

A
  • maternal serum alpha feto protein (MSAFP)
  • hCG
  • unconjugated estriol (uE3)
  • Inhibin-A
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10
Q

What is AFP produced by?

A

Produced primarily by the fetal liver. Crosses placenta into maternal serum, can be easily identifiable.

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11
Q

What are the labs for Turners Syndome? ( Trisomy 18)

A
  • decreased MS-AFP
  • decreased hCG
  • decreased uE3
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12
Q

What are the labs for Trisomy 21? ( Down syndrome)

A
  • decreased MS-AFP
  • increased hCG
  • decreased uE3
  • increased Inhibin A
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13
Q

What weeks is a amniocentesis done?

A
  • 16 weeks gestation

- evaluate fluid levels of AFP

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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

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15
Q

What is a morula?

A
  • located at isthmus

- enters uterus 4 days after fertilization

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16
Q

What is a Blastomere?

A
  • dividing fertilized ovum

- located within ampulla of fallopian tube

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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
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18
Q

When does the heart start to beat?

A

by 6 weeks

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19
Q

What is decidual basalis?

A

where the blastocyst implants; maternal contribution to placenta

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20
Q

What is decidual capsularis?

A

closes over and surround the blastocyst

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21
Q

What is the decidual parietalis/ decidua vera?

A

hormonal influence on the uninvolved endometrial tissue

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22
Q

How much does the gestational sac grow per day?

A

1 mm / day

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23
Q

What level does the hCG need to be to visualize a sac?

A

1000 - 2000 mIu/ml transvaginally

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24
Q

When is a yolk sac visible?

A
  1. 5 weeks LMP

- should be seen by 7 weeks

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25
Q

What is the normal size of the yolk sac?

A

> 5.6 mm between 5 and 10 weeks

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26
Q

What is the most accurate method for dating a pregnancy?

A

CRL

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27
Q

How much does a embryo grow per day?

A

1mm/day

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28
Q

What is rhomboencephalon?

A

anechoic structure seen in posterior portion of embryonic/ fetal brain from the 8th to the 11th weeks part of normal development of CNS

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29
Q

When should the midgut herniate back into the embryo?

A

herniates through umbilical cord around 9 weeks

- herniate back into the abdomen by 12 weeks

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30
Q

When is the cut off for termination of a pregnancy?

A

20 weeks

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31
Q

What is a complete abortion?

A

all products of conception is expelled

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32
Q

What is a incomplete abortion?

A

part of products expelled while some remain in uterus

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33
Q

What is a spontaneous abortion? (SAB)

A

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
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34
Q

What is a missed abortion?

A

presence of embryo without cardiac activity

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35
Q

What is a threatened abortion?

A

future of the pregnancy may be in jeopardy but pregnancy continues

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36
Q

What is an anembryonic pregnancy?

A
  • AKA Blighted ovum

- embryo does not develop or stops early and cannot be visualized

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37
Q

What is a septic abortion?

A

abortion with non sterile instruments or from infection or retained products of conception

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38
Q

What is an ectopic pregnancy?

A

implantation of fertilized ovum at any location other then endometrium

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39
Q

What is the most dangerous ectopic pregnancy location?

A

Cornual / interstitial

- if ruptured, hemorrhage

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40
Q

What is gestational trophoblastic disease?

A

Abnormal proliferation of trophoblastic tissue

- “ molar pregnancy”

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41
Q

What is Choriocarcinoma?

A

Malignant metastatic gestational trophoblastic disease that can metastasize to lung, liver, brain, bone, GI tract, and skin

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42
Q

What is Gastroschisis?

A

protrusion of the intestines into amniotic cavity

  • occurs lateral to umbilical cord insert to the right normally
  • no membrane
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43
Q

What is an Omphalocele?

A

Intestines fail to return to abdomen covered by a membrane

  • cardiac defects
  • trisomy 13 and 18
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44
Q

What is bladder extrophy?

A

Exposure or protrusion of the bladder on anterior wall

  • associated with genital
  • bladder not visualized in 30 minutes
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45
Q

Esophageal Atresia

A

No stomach visualized

- polyhydramnios

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46
Q

What is duodenal atresia?

A

” double bubble”

  • cardiac and vertebral anomalies
  • association with trisomy 21
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47
Q

What is meconium peritonitis?

A

Small bowel perforation in utero

- fetal bowel obstruction caused by intestinal atresia

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48
Q

Hyperechoic bowel

A

Similar to or greater than echogenicity of bone

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49
Q

Ascites

A

Most commonly associated with hydrops fetalis

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50
Q

How much space should the fetal heart occupy?

A

1/3

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51
Q

What is the optimal time to evaluate the fetal heart?

A

18-24 weeks

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52
Q

Explain the fetal circulation

A
  • 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
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53
Q

What part of heart is closest to spine?

A

Left atrium

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54
Q

What is the degree in which the heart points?

A

45 degrees to left anterior chest wall

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55
Q

What ventricle does the RVOT arise from?

A

Right ventricle

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56
Q

Know about the Aortic Arch

A
  • candy cane

- head and neck vessels arise from arch

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57
Q

Know about ductal larch

A
  • hockey stick
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58
Q

Know about Tracheal or 3 vessel view

A

Level of 4 chamber heart

Ensures orientation

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59
Q

What is a Ventricular Septal Defect? (VSD)

A
  • most common defect postnatally
  • incomplete closure of interventricular foramen and failure of membranous part of IV septum
  • associated with other cardiac anomalies
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60
Q

What is Atrial Septal Defect? (ASD)

A

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
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61
Q

What is hypoplastic right heart syndrome?

A

Occurs due to pulmonary atresia with intact ventricle septum

  • absent or very small RV
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62
Q

What is hypoplastic left heart syndrome?

A

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
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63
Q

Know about transposition of the great vessels

A

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

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64
Q

What is Truncus Arteriosus?

A

A single large vessel arises from the base of the heart instead of two separate outflow tracts

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65
Q

Why is ectopic cordis?

A

All or part of the heart is located outside of the fetal chest

  • associated with omphalocele in Pentalogy of Cantrell
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66
Q

What is double outlet right ventricle?

A

Both the pulmonary artery and aorta arise from the right ventricle.
- associated with maternal diabetes, alcohol,

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67
Q

What is characterized as a cardiac tumor?

A

Rhabdomyomas, cardiac fibromas, myxomas, teratomas

  • rhabdomyomas: tuberous sclerosis
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68
Q

What is a Atrioventricular (A-V) canal Defect?

A

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
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69
Q

What is Tetralogy of Fallot?

A

VSD, overriding aorta, stenosis of right outflow tract (pulmonic stenosis), right ventricular hypertrophy

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70
Q

What is ebsteins anomaly?

A

Malformation of the tricuspid valve with low insertion, grossly enlarged right atrium

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71
Q

What is ventricular hypertrophy?

A

In utero hypertrophy is most commonly associated with cardiac outlet obstruction but may also be associated with maternal diabetes

72
Q

What is cardiosplenic syndrome?

A

Asplenia and polysplenia are defects or lateralization

73
Q

What is the normal ranges of the fetal heart beat in the first trimester?

A

Prior 6 weeks: 100-115
After 6 weeks - 8 weeks: 144-159
After 9 weeks: 120-160
- plateaus

74
Q

What is a heart arrhythmia?

A

Arrhythmias can be due to premature ventricular contraction’s (PVC) or premature atrial contractions PAC

  • associated with maternal caffeine intake, cigarette smoking, alcohol
75
Q

What is Tachycardia?

A

Heartbeat greater than 180 BPM

76
Q

What is Bradycardia?

A

Fetal heart be less than 100 BPM

  • Heartbeat less than 80 BPM equals poor prognosis
77
Q

What is pleural effusion?

A

Most commonly diagnosed fetal intrathoracic abnormality isolated or in association with other abnormalities like hydrops fetalis

78
Q

What is a congenital diaphragmatic hernia (CDH)?

A

– CDH is the most common developmental abnormality of the diaphragm
Two sites: Bochdalek and morgagni

– Mediastinal shift’s is most recognizable sonographic feature

79
Q

What is pulmonary sequestration?

A

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
Q

What is congenital cystic adenomatoid malformation/congenital pulmonary airway malformation?

A

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
Q

When does the neural tube close?

A

Six weeks

82
Q

Which plane is the best to image for spina bifida?

A

Transverse

83
Q

The atrium of the lateral ventricle needs to measure less than?

A

Less then 10 mm

84
Q

What is the proper measurement of the cisterna magna?

A

Normal > 3 mm

Abnormal < 10 mm

85
Q

When do neural tube defect’s occur?

A

When the neural tube fails to completely close by six weeks gestation

86
Q

What is anencephaly?

A

Congenital absence of the cerebral hemispheres and cranial vault

  • fetal cranium should be identifiable by 12 weeks, 15 weeks at the latest
87
Q

What is acrania (exencephaly)?

A

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
Q

What is a encephalocele? (Cephalocele)

A

Herniation of brain and meninges or meninges in CSF through a cranial defect

  • associated with Meckel-Gruber syndrome
89
Q

What is spina bifida?

A

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
Q

What is Arnold Chiari malformation?

A
  • lemon shape head
  • banana sign cerebellum
  • hydrocephalus - ventricle >10 mm
91
Q

What is Iniencephaly?

A

Rare malformation in which the occiput is fused to the cervical region

92
Q

What is ventriculomegaly/hydrocephalus?

A

Dilatation of the ventricular system secondary to an increase in the volume of cerebrospinal fluid

93
Q

What is holoprosencephaly?

A

Absent or incomplete diverticulation of the forebrain into the cerebral hemispheres and lateral ventricles

Trisomy 13

94
Q

What is the most severe type of holoprosencephaly?

A

Most severe is Alobar

  • Semi lobar
  • lobar ( least severe form)
95
Q

What is hydranencephaly?

A

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
Q

What is Dandy-Walker malformation?

A

Complete or partial absence of cerebellar vermis and posterior fossa cystic dilatation communicating with the 4th ventricle

  • 80% hydrocephalus fetuses
97
Q

Agenesis of Corpus Callosum

A

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
Q

What is vein of Galen aneurysm?

A

Rare arteriovenous malformation causing increased flow through vein of Galen

99
Q

What are choroid plexus cysts?

A

Small cysts within the choroid plexus are common.

  • trisomy 18
100
Q

What is the most common intracranial tumor?

A

Teratomas are most common lesions

  • others: epidermoids, germinomas, glioastomas, craniopharyngomas
101
Q

What is Lissencephaly?

A

Caused by abnormal migration of neurons

- condition in which the brain lacks sulcu and gyri, appears smooth

102
Q

What is Schizencephaly?

A

Malformation characterized by clefts in cerebral hemispheres in region of primary fissures

103
Q

What is Porencephaly?

A

Presence of cystic areas within the cerebral parenchyma

104
Q

What is a sacrococcygeal teratomas?

A

Tumor arises from coccyx and sacrum

Increased AFP

105
Q

What is Caudal Regression Syndrome?

A

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
Q

What is scoliosis and kyphosis?

A

Abnormal curvature of the spine may involve any segment, but most frequently the thoracolumbar region is affected

107
Q

What is the measurement of the neck?

A

exceeds 6 mm between 15 and 21 weeks

108
Q

What is hypotelorism?

A

Decreased intraorbital distance.

- associated with syndromes and holoprosencephaly

109
Q

What is hypertelorism?

A

Increased intraorbital distance

- associated with anterior cephalocele and many symptoms

110
Q

Facial clefting: Cleft lip and palate

A
  • most common congenital facial abnormality

- associated with multiple syndromes

111
Q

What is a median cleft lip?

A

Midline malformation with/without cleft palate

- goes along with holoprosencephaly

112
Q

What is micrognathia?

A

small jaw

  • associated with syndromes, chromosomal abnormalities
  • trisomy 18
113
Q

What is frontal bossing?

A

prominent forehead due to absent nasal bone

114
Q

What is a epignathus?

A

Pharyngeal teratoma which protrudes from the fetal mouth

- large complex cystic mass that may hyperextend the neck

115
Q

What is a cervical teratoma?

A

on or around the neck. Complex cystic/solid mass near the fetal head

116
Q

What is the nuchal fold/ nuchal thickening?

A

Increased soft tissue thickness at the posterior aspect of the neck

  • trisomy 21
  • > 6 mm, measured between 15-21 weeks
117
Q

What is a cystic hygroma?

A

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
Q

When can you see fetal kidneys?

A

12-14 weeks

- appear hypoechoic

119
Q

What are the measurements of the renal pelvis?

A
  • 13-20 weeks: < 5 mm = normal
  • 20-30 weeks: 5-10 mm = probably normal; follow up
  • 30- term: > 10mm = 85% have anatomic anomaly
120
Q

When can we start to see the fetal bladder?

A

as early as 10 weeks

- routinely seen by 16 weeks

121
Q

Know about adrenal glands

A

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
Q

What is renal agenesis?

A

absence of one or both kidneys

123
Q

What is a unilateral renal agenesis associated with?

A

single umbilical artery

124
Q

Know about bilateral renal agenesis?

A
  • Potters syndrome
  • consists of bilateral renal agenesis
  • pulmonary hypoplasia
  • face and limb deformities
  • ** Oligohydramnios
125
Q

What is Autosomal Recessive Polycystic kidney disease/ Potters syndrome type 1?

A

Inherited disorder characterized by symmetric renal enlargement by multiple small cysts

  • cause enlargement of total renal size
  • echogenic
126
Q

What is Multicystic Dysplastic Kidney (MCDK) / Potters Type 2?

A

Obstruction of kidney during its development leads to formation of cysts which replace renal parenchyma

127
Q

What is a Ureteropelvic Junction Obstruction (UPJ)?

A

most common cause of fetal hydronephrosis

  • obstruction of urine flow from the renal pelvis into ureter
  • bilateral severe obstruction, oligo will occur
128
Q

What is a Ureterovesicular Obstruction?

A
  • least common cause of hydro
129
Q

What is a ureteral duplication with ectopic ureterocele?

A

Duplication of ureters, upper pole will insert ectopically and result in a ureterocele (herniation of distal ureter into bladder)

130
Q

Know about Bladder Outlet Obstructions?

A

Most are found in male fetuses

  • Males: PUV most common
  • Females: cloacal malformation or urethral atresia
131
Q

What is Posterior Urethral Valve Obstruction (PUV)?

A

Folds of the urethra act as valves and obstruct urinary flow

  • “keyhole bladder”
  • can have oligo
132
Q

What is Urethral Atresia?

A

Complete obstruction as the urethra is absent.

  • no amniotic fluid after 16 weeks
  • pulmonary hypoplasia
133
Q

What is a Cloacal Malformation?

A

Convergence of GI and genitourinary tracts. Single opening in perineum which empties both systems, can be obstructed

134
Q

What is Prune Belly Syndrome?

A
  • AKA: Eagle- Barrett syndrome
  • weakened abdominal wall musculature in conjunction with massively dilated bladder, ureters, and kidneys
  • most common cause is PUV
135
Q

Normal findings in male fetuses….

A
  • undescended testes: normally descend into scrotum between 26- 34 weeks gestation
  • hydroceles: small hydroceles are common
  • abnormal formation of penis
136
Q

Normal findings in female fetuses….

A

Hydrometrocolpos

- ovarian cysts

137
Q

What is rhizomelia?

A

shortening of proximal segment of long bones

138
Q

What is mesomelia?

A

Shortening of the middle segment of an extremity (Radius, ulna)

139
Q

What is acromelia?

A

Shortening of distal segment (hand, foot)

140
Q

What Is micromelia?

A

Shortened extremities

141
Q

What is phocomelia?

A

Absent segment of an extremity

142
Q

What is Amelia?

A

Complete absence of an extremity

143
Q

What is polydactyly?

A

presence of more than five digits

144
Q

What is syndactyly?

A

soft tissue or bony fusion of digits

145
Q

What is characterized as severe micromelia?

A

when a long bone measures more than 4 SD below mean for gestational age

146
Q

What is Thanatophoric Dysplasia?

A
  • most common lethal dysplasia
  • Cloverleaf Skull***
  • severe micromelia
  • hypoplastic thorax
  • male dominance
147
Q

What is Achondrogenesis?

A

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
Q

What is Osteogenesis Imperfecta Type 2?

A

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
Q

What is congenital hypophosphatasia?

A

bone demineralization disorder resulting from low levels of serum and tissue alkaline phosphatase

  • bowing of long bones
  • increased echogenicity of falx cerebri
150
Q

What is Campomelic Dysplasia?

A

Short bent or bowed long bones (lower extremity)

  • narrow thorax
  • CNS and renal anomalies
151
Q

What is Homozygous Dominant Achondroplasia?

A

Rhizomelic dwarfism, limb bowing, lordotic spine and a bulky head

  • possible cloverleaf head
  • one parent has to have heterozygous achondroplasia
152
Q

What is Short- Rib Polydactyly Syndrome?

A

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
Q

What is heterozygous achondroplasia?

A
  • non lethal
  • most common form of genetic skeletal dysplasia
  • FL short
  • frontal bossing
154
Q

Know about the other forms of osteogenesis imperfecta

A
  • non lethal forms
  • type 1: most common, femur bowing
  • Type 4: not detected prenatally
155
Q

What is Polydactyly?

A

More than the normal number of digits of the hand and foot

156
Q

What is Arthrogryposis?

A

Part of fetal akinesia deformation sequence characterized by multiple joint contractures

  • lack of fetal movement
  • talipes bilaterally
  • small thorax, polihydramnios
157
Q

What is Radial Ray Abnormalities?

A

Hypoplasia or aplasia of the radius in seen in many syndromes and conditions

  • Holt-Oram
  • Thrombocytopenia- absent radius (TAR)
  • trisomy 18
158
Q

What is Clinodactyly?

A

Permanent curvature of 5th digit

  • secondary to hypoplastic middle phalanx
  • Trisomy 21
159
Q

What is Syndactyly?

A

Fusion of digits

160
Q

What is Clubfoot Deformity (Talipes)?

A

Can be genetic or environmental

  • abnormal relationship between the tarsal bones and calcaneous
  • Environment: Oligo, amniotic band, uterine tumors
161
Q

What is Rocker Bottom Foot?

A

Bottom of feet appears “rocker bottom”, or convexes outward

- Trisomy 18 and other anomalies

162
Q

What is Sirenomelia?

A

Lower extremity fusion and abnormal or absent foot structures

163
Q

What are the functions of the placenta?

A
  • conversion of fetal steroids to estrogen
  • secretion of progesterone
  • secretion of hCG
  • exchange of oxygen, waste products, and nutrients between fetus and mother
164
Q

What is the placenta formed by?

A

proliferation of chorionic villi (chorion frondosum) proliferate and the maternal decidua basalis
- functional units of the placenta are Cotyledon

165
Q

What is a circumvallate placenta?

A

small central chorionic ring surrounded by thickened amnion and chorion
- may separate from uterine wall, threaten abortion

166
Q

What is Circummarginate Placenta?

A

Central attachment of the membranes without a central ring

167
Q

What is a Succenturiate Placenta?

A

Accessory Cotyledon with vascular connections to the main placenta

168
Q

What is a Bipartite Placenta?

A

placenta divided into two lobes but united by primary vessels and membranes

169
Q

What is annular placenta

A

Ring shaped placenta

170
Q

What is considered placentaomegaly?

A
  • Normal: < 5 cm AP

- Placentomegaly: > 5 cm AP

171
Q

What is a Placenta Previa?

A

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
Q

What is a complete placenta previa?

A

placenta covers internal os completely

173
Q

What is a partial previa?

A

placenta covering the internal os partially

174
Q

What is a marginal placenta previa?

A

Placenta close to internal os but not covering the cervix

175
Q

What is a low lying placenta?

A

placenta in lower uterine segment within 2 cm from internal os