OB II Week 1

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  1. Def. absence of the fetal eyes
  2. Def. absence of the fetal nose
  3. Def. group of disorders having in common the coexistence of an omphalocele, macroglossia, and visceromegaly
    Beckwith-Wiedemann syndrome
  4. Def. a cystic defect that arises from the primitive branchial apparatus
    branchial cleft cyst
  5. Def. protrusion of the brain from the cranial cavity
  6. Def. premature closure of the cranial sutures
  7. Def. cystic dilation of the lacrimal sac at the nasocanthal angle
  8. Def. teratoma located in the oropharynx
  9. Def. abnormal proturusion of the eyeball
  10. Def. malformation of the lymphatic system that leads to single or multiloculated lymph-filled cavities around the neck
    fetal cystic hygroma
  11. Def. fetal enlargement of the thyroid gland
    fetal goiter (thyromegaly)
  12. Def. abnormal smallness of one side of the face
    hemifacial microsomia
  13. Def. congenital defect caused by an extra chromosome, which causes a deficiency in the forebrain
  14. Def. fetal eyes too far apart
  15. Def. fetal eyes too close together
  16. Def. hypertrophied tongue
  17. Def. head smaller than the body
  18. Def. small chin
  19. Def. increased thickness in the nuchal fold area in the back of the neck associated with trisomy 21
    nuchal lucency
  20. Def. underdevelopment of the eyes, fingers, and mouth
    oculodentodigital dysplasia
  21. Def. underdevelopment of the jaw that causes the ears to be located close together toward the front of the neck
  22. Def. hereditary disease caused by failure to oxidize an amino acid (phenylalnine) to tryosine, because of a defective enzyme; if PKU is not treated early, mental retardation can develop
    phenylketonuria (PKU)
  23. Def. micrognathia and abnormal smallness of the tongue usually with a cleft palate
    Pierre Robin syndrome
  24. Def. a cylindrical protuberance of the face that in cyclopia or ethmocephaly represents the nose
  25. Def. eye disorder in which optic axes cannot be directed to the same object
  26. Def. solid tumor that can contain hair, teeth, fat, etc.
  27. Def. underdevelopment of the jaw and cheek bone and abnormal ears
    Treacher Collins syndrome
  28. Def. premature closure of the metopic suture
  29. FIB. Congenital anomalies of the face affect 1 in ____ births.
  30. What does the branchial apparatus bear a resemblance to?
  31. What structures comprise the branchial apparatus?
    branchial arches, pouches, grooves, and membranes
  32. The first branchial arch forms the jaw, zygomatic bone, ear, and temporal bone. What is another name for the first branchial arch?
    mandibular arch
  33. What the hyoid bone is formed by this branchial arch?
    second branchial arch
  34. Of the six branchial arches, how many are visible externally?
  35. FIB. Each branchial arch is separated by a _____ and is composed of a core of ______ cells.
    • grooves
    • mesenchymal
  36. This forms the cartilages, bones, muscles, and blood vessels.
  37. The ____ _____ cells develop the skeletal parts of the face and the _______ develops the musculature of the face and neck.
    • neural crest
    • mesoderm
  38. What is the name for the primitive mouth found as an indentation on the surface of the ectoderm in an embryo at 28 days?
  39. What branchial arch does the maxillary prominences arise from and grow cranially just under the eyes?
    first branchial arch (mandibular arch)
  40. During a routine basic fetal scan, when should the face be screened?
    • family hx of craniofacial malformations
    • another congenital anomaly is found
  41. Fetuses with a facial defects often have _____ abnormalities.
  42. Extensive facial screening may be hindered by? (list 4)
    bone shadowing, poor fetal position, oligohydramnios, maternal obesity
  43. Orbital fusion and proboscis suggest what anomaly?
  44. The fetal forehead can be appreciated in what view?
    profile (which is a sagittal scan of the fetal head)
  45. The fetal forehead shown in profile can demonstrate what anomalys?
    anterior cephaloceles
  46. Anterior cephaloceles may cause what condition of the eyes?
  47. skull appears unusually misshapen with a clover-leaf appearance in the anterior view
    clover-leaf skull (Keeblattschadel)
  48. Clover-leaf skull is associated with what anomalys?
    numerous skeletal dysplasias (thanatophoric dysplasia) and ventriculomegaly
  49. Trigonocephaly may cause the forehead to have an ______ appearance in the sagittal plane and _____ shaped in the axial plane.
    • elongated (tall)
    • triangular
  50. When can features of the fetal face be identified?
    end of the first trimester
  51. Fetal profile is well imaged with _____ sonography.
  52. The ____ _____ view is best to image the cleft lip and palate.
    modified coronal
  53. The ____ and ____ are well imaged in a true coronal plane.
    maxilla and orbits
  54. The ______ ____ demonstrates the nasal bones, soft tissue, and mandible.
    longitudinal view
  55. The _______ ____ shows orbital abnormalties and intraorbital distances.
    transverse view
  56. what may be observed in a fetus with a lemon-shaped skull (from spina bifida) or with skeletal dysplasias?
    frontal bossing
  57. What is the normal appearance of the fetal face in profile?
    curvilinear surface with differentiation of forehead, nose, lips, and chin
  58. appears as misshapen skull with clover-leaf appearance
    clover-leaf skull
  59. may appear as lemon-shaped skull or absent, depressed nasal bridge
    frontal bossing
  60. bulging of frontal bones and wide occiput
    strawberry-shaped cranium
  61. distortion of facial profile (look for cleft lip)
    masses of nose and upper lip
  62. anomaly with depressed or absent nasal bridge and is an underdevelopment of the middle structures of the face
    midface hypoplasia
  63. Midface hypoplasia occurs in fetuses with chromosomal anomalies such as ?
    trisomy 21, craniosynostosis syndromes, Apert's syndrome, limb and skeletal abnormalities (achondroplasia, chondrodysplasia punctata, and asphyxiating thoracic dysplasia)
  64. a median-cleft face syndrome consisting of a range of midline facial defects involving the eyes, forehead, and nose
    frontonasal dysplasia
  65. frontonasal dysplasia includes what anomalies?
    ocular hypertelorism, variable bifid nose, broad nasal bridge, midline defect of the frontal bone, and extension of the frontal hairline to form a widows peak
  66. the primary finding for frontonasal dysplasia is
  67. Nuchal translucency is useful in diagnosing what anomaly?
  68. What tests are typically included with a positive nuchal screening?
    • maternal biochemical screening which includes
    • b-HCG and PAPP-A
  69. b-HCG stands for
    beta human chorionic gonadotropin
  70. PAPP-A stands for
    pregancy associated plasma protein - A
  71. What is the optimal gestational age for the measurement of fetal NT?
    11 weeks to 13 weeks 6 days
  72. What should the CRL be to assess fetal NT?
    4.5 cm to 8.4 cm
  73. Where should the calipers be placed to measure a fetal NT?
    on the borders of the nuchal translucency and not in the nuchal fluid area
  74. What is an abnormal fetal NT?
    above 3 mm
  75. What indicates a greater chance of chromosomal anomaly or other defects such as congenital heart disease when measuring the NT?
    the thicker the NT above 3 mm
  76. Masse of the nose and upper lip may indicate what anomaly?
    cleft lip
  77. macroglossia and organomegaly is a condition found in what fetal syndrome?
    Beckwith-Wiedemann Syndrome
  78. What is palladini's formula for diagnosing micrognathia?
    What is considered positive?
    • AP mandible Diam/BPD X 100
    • An index of 21 or less
  79. Micrognathia is associated with what 3 groups of conditions?
    chromosome anomalies, skeletal dysplasias, primary mandibular disorders
  80. What condition occurs caused by micrognathia which inhibits the fetus from swallowing amniotic fluid?
  81. What views can be used to demonstrate the fetal ears?
    parasagittal plane or coronal plane
  82. What syndrome includes malformations of the ear, anophthalmia, and hemifacial microsomia?
    Goldenhar's syndrome
  83. What syndrome results in small fetal ears?
    robert's syndrome
  84. another name for lacrimal duct cysts
  85. This has aided in the early detection of ocular anomalies and other intracranial abnormalities.
    endovaginal sonography
  86. absence of the nose
  87. Evaluation of the nasal triad should assess?
    • 1 nostril symmetry
    • 2 nasal septum integrity
    • 3 continuity of the upper lip to exclude cleft lip and palate
  88. a fissure or opening of the lip
    cleft lip
  89. What is the most common congenital anomaly of the face?
    cleft lip
  90. Oblique and asymmetrical clefts may occur with what syndrome
    amniotic band syndrome
  91. name the causes of cleft lips
    familial predisposition, trisomies (13, 18, 21) triploidy and tranlocations, acrocephalopolysyndactyly, amniotic band syndrome, anencephaly, congenital cardiac disease, diastrophic dysplasia, holoprosencephaly, Kniest dysplasia, spondyloepiphyseal dysplasia congenita, Meckel-Gruber, Roberts', and multiple pterygrium syndromes
  92. what is the most common neck mass?
    cystic hyroma colli (lymphatic obstruction)
  93. caused by incomplete merging of the two medial nasal prominences in the midline
    median cleft lip
  94. failure of maxillary prominence to merge with the lateral nasal swelling, with exposure of the nasolacrimal duct
    oblique facial cleft
  95. large gap in upper lip on modified coronal view; nose is flattened and widened; a premaxillary mass may be present
    complete bilateral cleft lip and palate
  96. incomplete fusion of maxillary prominence to the medial prominence on one side; modified coronal view
    unilateral complete cleft lip and palate
  97. nose is intact; modified coronal view of lip
    incomplete cleft lip
  98. Fetal cystic hygroma can lead to what condition and fetal death?
    fetal hydrops
  99. A cystic hygroma with fetal hydrops carries a ___% of mortality.
  100. If a fetus has both hypo and hyper thyroid antibodies what test may be nescessary to evaluate the fetal thyroid?
    PUBS percutaneous umbilical blood sampling
  101. Neck teratomas are usually _____ and located ______.
    • unilateral
    • anteriorly
  102. condition associated with anencephaly in which there is complete or partial absence of the cranial bones
  103. most sever form of holoprosencephaly 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
    alobar holoprosencephaly
  104. neural tube defect characterized by the lack of development of the cerebral and cerebellar hemispheres and cranial vault; this abnormality is incompatible with life
  105. an abnormality or congenital malformation
  106. form of holoprosencephaly characterized by a common ventricle, hypotelorism, and a nose with a single nostril
  107. severe form of holoprosencephaly characterized by a common ventricle, fusion of the orbits with one or two eyes present, and a proboscis (maldeveloped cylindrical nose)
  108. an increase in size of the jugular lymphatic sacs because of abnormal development
    cystic hygroma
  109. a range of abnormalities from abnormal cleavage of the forebrain
  110. congenital absence of the cerebral hemispheres because of an occlusion of the carotid arteries; midbrain structures are present, and fluid replaces cerebral tissue
  111. ventriculomegaly in the neonate; abnormal accumulation of cerebrospinal fluid within the cerebral ventricles, resulting in compression and frequently destruction of brain tissue
  112. enlargment of the fetal cranium as a result of ventriculomegaly
  113. open spinal defect characterized by protrusion of the spinal meninges
  114. open spinal defect characterized by protrusion of meninges and spinal cord through the defect, usually within a meningeal sac
  115. neural tube defect of the spine in which the dorsal vertebrae (vertebral arches) fail to fuse together, allowing the protrusion of meninges and/or spinal cord through the defect; two types exist; spina bifida occulta (skin-covered defect of the spine without protrusion of the meninges or cord) and spina bifida cystica (open spinal defect marked by sac containing protruding meninges and/or cord)
    spina bifida
  116. closed defect of the spine without protrusion of meninges or spinal cord; alpha-fetoprotein analysis will not detect these lesions
    spina bifida occulta
  117. abnormal accumulation of cerebrospinal fluid within the cerebral ventricles resulting in dilation of the ventricles; compression of developing brain tissue and brain damage may result; commingly associated with additional fetal anomalies
  118. The CNS arises from the ____ ____ ____ at around __ gestational days.
    • ectodermal neural plate
    • 18
  119. the forebrain develops into the
  120. the midbrain develops into the
  121. the hindbrain develops into the
  122. the prosencephalon divides into
    the telencephalon and diencephalon
  123. the rhombenencephalon divides into the
    metencephalon and myelencephalon
  124. what 2 regions does the spinal cord divide into
    • alar plate region
    • basal plate region
  125. the alar plate region of the spinal cord matures into what
    the sensory region of the cord
  126. the basal plate region of the spinal cord develops into the
    motor region
  127. Neural function begins at what week of gestation
    6 weeks
  128. at what months of gestation is a fetus capable of gripping and respiratory movement?
    4th and 5th months
  129. what is the most common neural tube defect?
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OB II Week 1
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