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Genetic Counseling Boards > Embryology > Flashcards

Embryology Flashcards

1
Q

Malformation

A

structure never formed properly and was abnormal to begin with due to underlying genetic, epigenetic, or environmental factor

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2
Q

Sequence

A

malformation triggers series of other defects; aka field defect

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3
Q

Potter Sequence

A

kidney agenesis -> absent urine production -> oligohydramnios -> constriction of fetal movement, clubfoot, pulmonary hypoplasia, Potter facies

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4
Q

Pierre-Robin Sequence

A

micrognathia (may be due to oligohydramnios) -> posteriorly displaced tongue -> u-shaped cleft palate and breathing obstruction

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5
Q

Deformation

A

genetic components and potential for normal development present but constrictions in space/external constraints lead to abnormalities

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6
Q

Disruption

A

potential for normalcy present but something interferes and destroys formation, usually abnormality in uterine environment

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7
Q

Dysplasia

A

intrinsic cellular architecture of tissue not normally maintained throughout growth and development

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8
Q

Syndrome

A

generally recognized and well-characterized constellation of major and minor anomalies that occur together in predictable fashion with known cause

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9
Q

Association

A

group of anomalies that occur more frequently together than would be predicted by chance alone but that lack a predictable pattern/unified underlying etiology

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10
Q

Major Anomalies

A

anomalies/malformations that create significant medical problems or require specific surgical/medical management

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11
Q

Minor Anomalies

A

features that vary from those most commonly seen in normal population that don’t cause increased morbidity

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12
Q

When do most internal organs form?

A

4-6w

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13
Q

When do digits and facial features form?

A

8-12w

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14
Q

When does neurological development occur?

A

throughout gestation

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15
Q

Gametogenesis

A
  • process of forming haploid germ cells that will combine to make diploid zygotes
  • oogenesis starts during embryonic development
  • spermatogenesis starts during puberty
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16
Q

Fertilization

A
  • 0w FA
  • sperm drawn towards chemoattractant produced by ovum
  • zona pellucidum becomes impermeable when a sperm penetrates
  • sperm nucleus decondenses and forms pronucleus
  • fertilization triggers ovum to complete meiosis II and form pronucleus
  • pronuclei fuse
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17
Q

Cleavage

A
  • 0.5w FA

- zygote rapidly divides and forms blastocyst with inner cell mass and trophoblast

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18
Q

Implantation

A
  • 10d FA

- as soon as it occurs, trophoblast differentiates into cytotrophoblast and syncytiotrophoblast

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19
Q

Placenta and Amniotic Fluid

A
  • 2w FA
  • formal circulation system established and develops into placenta
  • amnionic cavity forms in blastocyst and chorionic cavity encases developing cell mass
  • as embryo grows, amnion rapidly expands and joins chorion (fully fused 14w) and contains amniotic fluid
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20
Q

Gastrulation

A
  • 3w FA
  • embryo transitions from bilaminar to trilaminar
  • notochord forms and neural tube development starting
  • somites develop
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21
Q

Folding

A
  • 4w FA
  • transverse: flat embryo rolls up and forms tubular structure
  • longitudinal: head and tail curve inward
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22
Q

Heart Formation

A
  • 3.5w - 9w FA
  • first organ to fully develop
  • critical period for major anomalies 3.5-6.5w
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23
Q

L-transposition of Great Arteries

A
  • heart tube loops to left instead of right

- asymptomatic but may have conduction defects

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24
Q

Atrial Septal Defects

A
  • LR shunt

- heart failure, FTT< pulmonary vasoconstriction, pulmonary vascular disease

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25
Q

Ventricular Septal Defects

A
  • LR shunt

- pulmonary HTN, pulmonary vascular disease, CHF

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26
Q

Endocardial Cushion Defect/AV Canal

A
  • LR shunt

- seen in DS

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27
Q

Double Outlet Right Ventricle

A
  • right ventricle empties into pulmonary artery and aorta, LV empties into RV
  • cyanotic
  • increased pulmonary blood flow, PVD, CHF
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28
Q

Tetralogy of Fallot

A
  • obstruction to pulmonary outflow, VSD, RVH, overriding aorta
  • cyanotic
  • seen in 22q11.2
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29
Q

Persistent Truncus Arteriosus Communus

A
  • absence of truncal and part of conal septum leads to common trunk instead of aorta and VSD
  • cyanotic
  • CHF, PVD
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30
Q

Aorticopulmonary Septal Defect

A
  • LR shunt
  • defect in ascending aorta without VSD due to neural crest cell defect
  • like PDA
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31
Q

Patent Ductus Arteriosus

A
  • LR shunt
  • cyanotic
  • could lead to PVD
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32
Q

Pulmonary Stenosis/Atresia

A
  • RL shunt across foramen ovale
  • cyanotic
  • pulmonary flow into pulmonary artery diminished, RVH
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33
Q

D-Transposition of Great Arteries

A
  • cyanotic
  • RV outputs into aorta and LV outputs into pulmonary arteries
  • can be catastrophic at birth and requires surgical intervention
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34
Q

Tricuspid Atresia

A
  • cyanotic
  • no opening in tricuspid valve leads to blockage between RA and RV and no flow across pulmonary artery
  • hypoplastic RV, atresia/stenosis of pulmonary valve
  • surgery required
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35
Q

Total Anomalous Venous Connection

A
  • cyanotic
  • complete mixing of saturated and desaturated blood in left atrium due to anomalous attachment of pulmonary veins into something below diaphragm
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36
Q

Vascular Ring

A
  • compression of esophagus and trachea leads to severe respiratory distress
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37
Q

Esophageal Constriction

A
  • posterior identation of esophagus due to presence of artery
  • difficulty swallowing food
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38
Q

Coarctation of Aorta

A
  • narrowing of aorta near ductus that decreases flow in ascending aorta
  • may be preductal, postductal, or juxtaductal
  • high blood pressure in arms, low blood pressure in legs, rib notching
  • seen in Turner syndrome
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39
Q

Hypoplastic Left Heart

A
  • cyanotic
  • no flow through left side of heart due to mitral atresia, no flow through ascending aorta
  • baby goes into shock when ductus closes
  • surgical repair or heart transplant needed
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40
Q

Respiratory System Formation

A
  • development takes place between 4-28w FA and continues until 8y
  • lungs derived from developing foregut and respiratory pathway separated from digestive pathway
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41
Q

Tracheoesophageal Fistula

A
  • abnormal communication between respiratory and digestive pathways
  • when infant eats, can aspirate food into lungs
  • when regurgitate/reflux, stomach contents can go into lungs
  • G-tube placement
  • associated with chromosomal anomalies, CHD, imperforate anus (VACTERL)
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42
Q

Apnea of Prematurity

A

periodic breathing in premature infants that leads to pauses in oxygen flow

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43
Q

Meconium Aspiration

A

meconium excreted into amniotic fluid when fetus in distress and aspirated into lungs leading to irritation and pneumonia

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44
Q

Respiratory Distress Syndrome

A
  • issue with prematurity
  • surface of alveoli become proteinaceous, leading to difficulty breathing
  • treatment with ECMO
  • may be prevented by administering glucocorticoids to stimulate lung maturation
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45
Q

Bronchopulmonary Dysplasia

A

improper development of lungs leads to overexpansion and respiratory distress

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46
Q

Stuctural Lung Anomalies

A
  • lung hypoplasia
  • unilateral absence of lung
  • bilateral absence of lungs (not viable)
  • severe hypoplasia (not viable)
  • sequestration of lung
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47
Q

Transient Tachypnea of Newborn

A

babies born via C-section have retained fluid in lungs and may breathe faster

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48
Q

Persistent Pulmonary Hypertension of Newborn

A
  • pulmonary HTN perpetuated in utero and after birth
  • high pulmonary vascular pressure causes RL shunt
  • ECMO needed
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49
Q

GI System Formation

A
  • development takes place between 3-32w FA

- involves development of foregut, midgut, and hindgut

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50
Q

Foregut

A
  • esophagus, stomach, first part of duodenum

- celiac artery and branch aorta

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51
Q

Midgut

A
  • small intestine, cecum, part of ascending colon

- superior mesenteric artery

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52
Q

Hindgut

A
  • transverse colon, descending colon, sigmoid colon, rectum

- inferior mesenteric artery

53
Q

Esophageal Atresia

A

unable to pass what is swallowed, leading to polyhydramnios and prematurity

54
Q

Hiatal Hernia

A
  • hole for esophagus in diaphragm larger than it should be, allowing stomach to enter chest cavity
  • GER
  • thickened feedings, prop baby up
55
Q

Diaphragmatic Hernia

A
  • variable amounts of intestine pass through holes in diaphragm and end up in chest cavity
  • hypoplastic lungs, small volume in abdomen
  • can be fix via intrauterine repair
56
Q

Eventration of Diaphragm

A
  • muscular aspects of diaphragm underdeveloped so diaphragm remains high in chest
  • lung development affected, respiratory distress
57
Q

Diaphragmatic Palsy

A

phrenic nerve injury causes paralysis of diaphragm causing similar features as eventration

58
Q

Pyloric Stenosis

A
  • pyloric sphincter hypertrophy leads to forceful vomiting
  • failure to gain weight, dehydration, vigorous waves in stomach, big stomach bubble
  • more common in males
59
Q

Biliary Atresia

A
  • intrahepatic (in liver): jaundice, dark urine, lack of color in stool, need liver transplant
  • extrahepatic (outside liver): palliative surgery
60
Q

Annular Pancreas

A

pancreatic tissue completely surrounds duodenum leading to stenosis/atresia

61
Q

Duodenal Stenosis/Atresia

A
  • bilious vomiting, polyhydramnios, prematurity, “double bubble”
  • associated with DS
62
Q

Omphalocele

A
  • gut fails to come back into body cavity but intestines not exposed to amniotic fluid
  • associated with BWS
63
Q

Gastroschisis

A
  • hole in abdominal wall lateral to umbilicus allows intestines to protrude directly into amniotic fluid
  • associated with young maternal age
64
Q

Malrotation

A

abnormal fixation of intestinal structures to abdominal wall leading to twisting of intestines (volvulus) or fibrous obstructions (Ladd’s bands)

65
Q

Intestinal Stenosis/Atresia

A
  • proximal: polyhydramnios, multiple bubbles
  • ileum: microcolon
  • jejunum: cut off where polyhydramnios occurs
66
Q

Diverticulum

A

outpouching that is mostly asymptomatic unless becomes infected or telescopes inward (intussusception)

67
Q

Duplication

A

parts of gut duplicated

68
Q

Meconium Ileus

A
  • viscous secretion from CF patients that is stuck because peristalsis cannot move it
  • infection, paralysis of ileum, “soap bubbles”, abdominal distension, no bowel sounds
69
Q

Hirschsprung Disease

A
  • neural crest cell disorder that prevents innervation for peristalsis
  • megacolon, chronic obstruction
70
Q

Rectal Atresia

A
  • rectum forms fistula with adjacent stucture (vagina, urethra)
  • delayed vomiting, no stool
71
Q

Imperforate Anus

A
  • membrane did not undergo apoptosis

- associated with chromosomal anomalies, vertebral, and other GI anomalies (VACTERL)

72
Q

GU System Formation

A
  • development occurs between 4-32w FA
  • involves differentiation of pronephros, mesonephros, and metanephros along urogenital ridge into different structures and further differentiation of genitalia
  • nephrogenesis not complete until 32w
  • critical period 7.5w-9w
73
Q

Pronephros

A

kidney formation

74
Q

Mesonephros

A
  • paramesonephric ducts: Mullerian ducts

- mesonephric ducts: Wolffian ducts

75
Q

Metanephros

A

definitive kidney

76
Q

Agenesis of Kidney

A
  • kidney does not form at all

- Potter sequence, lung hypoplasia, respiratory insufficiency

77
Q

Renal Obstruction

A

can cause oligohydramnios and pulmonary hypoplasia

78
Q

Posterior Urethral Valves

A

bladder unable to empty leading to dilatation of ureters and renal pelvis, compression of kidney parenchyma, kidney damage, oligohydramnios

79
Q

Horseshoe Kidney

A
  • kidney fuses in pelvis which prevents its normal ascent

- associated with Turner

80
Q

Cystic Kidneys

A

genetic and non-genetic causes and linked to disease in other organs (liver)

81
Q

Exstrophy of Bladder

A
  • abdominal wall doesn’t close completely over bladder and is exposed to amniotic fluid
  • associated with other urinary tract anomalies, kidney problems
82
Q

Rectovesicular Fistula

A

division of hindgut goes awry and rectal contents empty into bladder

83
Q

Failure of Paramesonephric Ducts to Fuse in Midline

A
  • duplication of cervix, duplication of horns, unequal horns, septate uterus
  • impacts fertility
84
Q

Hypospadias

A
  • often due to deficiency of androgens
  • penoscrotal/perineal: opening between unfused scrotum, ambiguous genitalia
  • penial: opening on underside of shaft
  • glanular: opening on underside of glans
  • associated with SLOS, infertility
85
Q

Inguinal Hernia

A

inguinal canal fails to close after testicular descent and intestine enters canal causing pain and intestinal obstruction

86
Q

Ambiguous Genitalia

A
  • several different etiologies

- important to consider AIS, CAH

87
Q

Formation of Head, Face, and Neck

A
  • facial development including lips, eyes, ears starting during 4w FA with more recognizable features 8-12w FA
  • pharyngeal apparatus begins to develop and contributes to development of ear, thymus, thyroid, and parathyroid structures
88
Q

Pharyngeal Arches

A
  • arch 1: maxilla, mandible, mastication muscles, trigeminal nerve
  • arch 2: muscles of facial expression, facial nerve
  • arch 3: swallowing muscles, glossopharyngeal nerve
  • arch 4: neck, swallowing muscles, aorta, glossopharyngeal nerve
  • arch 5: neck
  • arch 6: neck, pulmonary artery, ductus arteriosus
89
Q

Pharyngeal Clefts

A

external ear canal

90
Q

Pharyngeal Pouches

A
  • internal ear canal
  • tonsils
  • parathyroid gland
  • thymus
  • thyroid
91
Q

First Arch Syndrome

A
  • marcostomia, cleft in cheek tissue, low-set ears, micrognathia
  • complete lack of first arch leads to agnathia
  • common in T18
92
Q

Cleft Lip/Palate

A
  • syndromic or nonsyndromic

- associated with recurrent ear infections, difficulty feeding

93
Q

Microstomia

A

small mouth

94
Q

Microophthalmia

A

small eyes

95
Q

Ankyloglossus

A

tongue not freely mobile

96
Q

Formation of Nervous System

A
  • CNS starts developing 3w FA and continues to develop throughout gestation with critical period continuing throughout gestation
97
Q

Neural Tube Defects

A
  • spina bifida occulta
  • meningocele: CSF and meninges bulge out but spinal cord unaffected
  • myelomeningocele: CSF and spinal cord bulge out leading to damage
  • anencephaly: no brain
  • encephalocele: fluid +/- brain
  • rachischisis: neural tube does not close
98
Q

Charcot-Marie-Tooth

A
  • abnormal myelination affects Schwann cells in PNS

- distal muscle weakness, muscle atrophy

99
Q

Krabbe Disease

A
  • leukodystrophy affecting oligodendrocytes

- brain and spinal cord damage, blindness, seizures, childhood death

100
Q

Lissencephaly

A
  • brain remains smooth

- significant neurological impact but involuntary functioning remains intact

101
Q

Miller-Dieker Syndrome

A
  • sporadic chr 17 deletion

- lissencephaly, dysmorphic features, renal issues

102
Q

Holoprosencephaly

A
  • spectrum of disorder depending on how much of telencephalon divides
  • midline defects
  • T13, SHH
103
Q

Microcephaly

A
  • abnormal brain development not caused by premature closing of sutures
  • viral infection, maternal disease, genetic conditions
  • ID, DD, seizures
104
Q

Hydrocephalus

A
  • too much fluid in brain due to excess production, poor recycling/drainage, blockage
  • due to aqueductal stenosis, Dandy-Walker, Arnold-Chiari, IVH, achondroplasia
105
Q

Neural Crest Cell Defects

A
  • 22q11.2
  • Waardenburg
  • Hirschsprung disease
  • chromaffin cells contributing to pheochromocytoma tumors (VHL, MEN1)
106
Q

Familial Dysautonomia

A
  • all autonomic innervation not functioning properly

- hypotonia, feeding difficulties, reduced sensitivity to temperature and pain

107
Q

Craniosynostosis

A
  • one or more suture fuses before it should leading to differences in skull shape
  • cognitive function can be normal
108
Q

Formation of Musculoskeletal System and Skin

A
  • during 3-5w FA, somites develop form mesoderm and constitute dermatome (skin), myotome (muscle), and sclerotome (bone)
  • critical period for limb anomalies 4-6w FA
109
Q

Pectus Excavatum

A

chest caves inward

110
Q

Pectus Carinatum

A

chest projects outward

111
Q

Absent Fontanelles

A

crankiness, vomiting, high blood pressure, brain compression

112
Q

Prune Belly Syndrome

A

no abdominal muscles, so abdomen enlarged

113
Q

Limb Defects

A
  • amelia: no limb
  • phocomelia: only distal element present
  • rhizomelia: shortening of proximal bones
  • mesomelia: shortening of distal bones
  • acromelia: shortening of digits
  • micromelia: shortening of limb
  • sirenomelia: caudal dysgenesis
  • hip dysplasia: hip socket not adequately development
114
Q

Digit Defects

A
  • extrodactyly: clefting and syndactyly
  • syndactyly: fusion of digits
  • polydactyly: extra digits
115
Q

Apert Syndrome

A

craniosynostosis and mitten hand deformity

116
Q

Achondroplasia

A

rhizomelia, lumbar lordosis

117
Q

Marfan Syndrome

A

hyperextensibility, joint laxity, tall stature, arachnodactyly, ectopia lentis, aortic dissection, pectus deformities

118
Q

OI

A
  • defect in collagen
  • tendency to fracture, chest deformities
  • severe forms incompatible with life
119
Q

Ehlers-Danlos Syndrome

A

elastic skin, scarring, vascular issues

120
Q

Holt-Oram Syndrome

A
  • “hand-heart” condition

- defects of radial ray (absent thumbs/radius), CHD

121
Q

Amniotic Bands

A
  • oligohydramnios or tear in amniotic membrane can develop fibrous bands that put pressure on developing structure
  • if compressing blood supply, distal elements will no longer grow
122
Q

Albinism

A

no pigment granules

123
Q

Ectodermal Dysplasia

A
  • certain receptors or aspects of skin development not present, resulting in individual with delicate skin and sparse hair
  • hypohidrotic form includes absent/sparse sweat glands leading to trouble regulating temperature
  • abnormal tooth development
124
Q

Hemangioma

A

raised collection of tiny blood vessels that usually fade in infancy

125
Q

Peutz-Jegher Syndrome

A

freckles on vermilon border and inside mouth

126
Q

NF

A

neurofibromas on skin

127
Q

Tuberous Sclerosis

A

shagreen patches, hypopigmentation (ash leaf spots)

128
Q

Gynecomastia

A

further breast development in men with Klinefelter syndrome

129
Q

Diastrophic Dwarfism

A

Hitchhiker’s thumb, club foot, proportionate short stature

Genetic Counseling Boards (22 decks)

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