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BLUE BOXES > Embryo > Flashcards

Embryo Flashcards

1
Q

Preimplantation diagnosis of genetic disorders

A
  • 3-5 days post in vitro fertilization
  • 1-2 blastomeres (cells) tested
  • PCR & FISH (fluorescence in situ hybridization)
  • Sex determined for sex linked traits
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2
Q

Abnormal embryos and spontaneous abortions

A
  • Natural screening of embryos occurs
  • Abortion can occur b/c of chromosomal abn.
  • Higher abortion rate in fetus w/ neural tube defects, cleft lip, cleft palate
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3
Q

Ectopic pregnancies

A
  • Implantation outside uterus
  • Most in ampulla & isthmus
  • Ampulla = implant can expel to peritoneal-abdominal preg
  • Isthmus = ruptures early, profuse bleeding from anastomoses of ovarian and uterine vessels
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4
Q

Tubal pregnancies

A
  • Often related to delay or inability to transport zygote to uterus
  • Causes for delay : mucosal adhesions, PID (pelvic inflam. disease)
  • Symptoms of preg + potential abdominal pain
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5
Q

Intramural tubal pregnancy

A
  • Implant in uterine part of tube

- Zygotes may develop to fetus before rupture

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6
Q

Abdominal pregnancy

A
  • Fetus may be delivered alive
  • Placenta attached to abdominal organs / risk of maternal death
  • Simultaneous intra, extrauterine pregnancies can but rarely occur
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7
Q

Placenta previa

A
  • Fetus implantation near internal os = placenta cover os
  • May = bleeding b/c premature separation of placenta
  • Cesarian section required for total block
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8
Q

Spontaneous abortion of embryos and fetuses

A
  • Miscarriage occurs within the first 12 wks of pregnancy 10-20% of time
  • Most during first 3 wks
  • 30 - 50% of all zygotes never develop into blastocysts
  • Chromosomal abnormalities common cause
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9
Q

Inhibition of implantation

A
  • Morning after pill = high doses of estrogens/progestins = no implantation
  • Intrauturine device inserted into uterus > local inflam rxn > implantation prevented
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10
Q

Pregnancy tests

A
  • HCG is used to detect early preg

- Bleeding at time of menstruation does not rule out preg

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11
Q

HCG

A
  • Human chorionic gonadotrophin
  • Produced by syncytiotrophoblast
  • Released by cleaving zygote
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12
Q

Sacrococcygeal teratomas

A
  • From remnants of primitive streak
  • Tumors = tissues from 3 germ layers
  • Most common tumor in newborns
  • Most common in females
  • Most benign, surg removed
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13
Q

Remnants of notochord tissue

A
  • Chordoma: arise from remnants of notochordal tissue
  • 1/3 from base of cranium to nasopharynx
  • Slow growing
  • If malignant infiltrate bone, difficult to remove
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14
Q

Allantoic cysts

A
  • Remnants of extra embryonic portion of allantois
  • Usually between fetal umbilical vessels near ant. wall
  • Asymptomatic until childhood/adolescence = become inflamed
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15
Q

Omphalocele

A
  • Congenital herniation of viscera into proximal umbilical cord
  • Associated with allantoic cysts
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16
Q

Birth defects result from abnormal neurulation

A
  • Timing of neurulation > defects - commonly neural tube defects
  • Meroencephaly/anencephaly: partial/complete absence of brain (most common NTD affecting CNS)
  • Disturbance in neuroectoderm, failure of neural folds to fuse
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17
Q

Hyatidiform moles

A
  • Abnormal growth of trophoblast
  • Cystic swellings from degen. villi following embryo death
  • Produces high HGC
  • Resemble a grape bunch
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18
Q

Choriocarcinoma

A
  • Metastasize to various sites: lungs, vagina, liver, bones, intestine, brain
  • Produced fro hyatidiform moles (3-5% of moles progress)
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19
Q

Complete hydatidiform moles

A
  • Monospermic: Follow fert. of empty oocyte (inactive/absent pronucleus)
  • Dispermic: fert. empty oocyte 2 sperm
  • Most complete hydatidiform moles are monospermic
  • Nuclear DNA is paternal
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20
Q

Partial hydatidiform mole

A
  • Normal oocyte fert. w/ 2 sperm (dispermy)
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21
Q

Ultrasonography of chorionic sac

A
  • Size of sac > determine gestation age

- Detectible when median sac 2-3mm

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22
Q

Embryonic age

A
  • begins at fert.
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23
Q

Last normal menstrual period (LNMP)

A
  • 2 wks before embryonic age starts

- 1st day of LNMP marks gestational age

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24
Q

Oligomenorrhea

A
  • Scanty menstruation

- Lead to LMNP unreliability

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25
Q

Placental transport mechanisms (in add. to s. diff, f. diff, act trans. pinocytosis)

A
  • Fetal RBCs > maternal circ. through microscopic breaks, can occur maternal > fetal
  • Cross under own power (maternal leukocytes, Treponema palladium = syphilis)
  • Infect placent, create lesions (Toxoplasma gondii)
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26
Q

Hemolytic disease of newborn

A
  • Fetal erythroblastosis
  • Rh(-)mom, Rh(+)dad > Rh(+) fetus
  • anti-Rh ab > hemolysis of fetal RBCs
  • Anemia, jaundice
  • Rh ig to mother to prevent
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27
Q

Gestational trophoblastic disease

A
  • Gestational choriocarcinoma
  • Abnorm proliferation of trophoblast cells
  • Cells penetrate deciduas basalis, may metastasize
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28
Q

Gestational choriocarcinomas treatment

A
  • Respond strongly to chemo

- Cures usually achieved

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29
Q

Placenta accrete

A
  • Abnorm adherence of chorionic villi to myometrium
  • 3rd trimester bleeding common
  • Placenta stick to uterine wall > hemorrhage
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30
Q

Placenta percreta

A
  • Chorionic villi penetrate myometrium to perimetrium
  • 3rd trimester bleeding common
  • Placenta sticks to uterine wall > hemorrhage
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31
Q

Placenta previa

A
  • Placenta implants close to uterine os
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32
Q

Performed to assess fetal acid-base status

A
  • Percutaneous umbilical cord blood sampling
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33
Q

Umbilical artery doppler velocimetry

A
  • Investigate preg complications (intrauterine growth retard, fetal distress from hypoxia, anoxia)
  • IUGR associated w/ increased umbilical artery resistance
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34
Q

Absence of umbilical artery

A
  • Agenesis/degradation of vessel in early dev.

- Associated 15-20% w/ cardiovascular defect

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35
Q

Oligohydramnios

A
  • Disorder of amniotic fluid volume: it’s low
  • Preterm rupture of amniochorionic membrane, placental insufficiency, renal agenesis
  • Ass. complications: pulm hypoplasia, facial defects, limb defects compression of umbilical cord
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36
Q

Polyhydraminos

A
  • Disorder of amniotic fluid volume: it’s high
  • Fetus not swallowing amniotic fluid (esophageal atresia)
  • Ass. complications: meroanencephaly, anencephaly)
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37
Q

Rupture of amniochorionic membrane

A
  • Lead to premature labor

- Oligohydraminos

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38
Q

Amniotic band syndrome/amniotic band disruption complex

A
  • Rupture of amnion
  • Constriction by encircling amniotic bands
  • Ass. malformations: digital constriction, major scalp, craniofacial and visceral defects
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39
Q

Allantoic cysts

A
  • Cystic mass in umbilical cord
  • Maybe remains of extra embryonic part of allantois
  • Usually resolve but can be associated w/ an omphalocele
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40
Q

Erythrocyte mosaicism

A
  • Anastomose b/t blood vessels of fused placentas of DZ twins
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41
Q

Twin-transfusion syndrome

A
  • Shunt of blood b/t twins: t1 > anastomose > v circ. t2
  • Donor t: small anemic
  • Recipient t: large, polycythemic
  • 30% of monochorionic-monoamniotic twins
  • Laser ablation of shunt possible
42
Q

Establishing zygosity of twins

A
  • Molecular diagnosis

- Monochorionic-monoamniotic twin placenta: 50% mort rate due to tangled umbilical cords

43
Q

Causes of discordant MZ twins

A
  • vascular abnorm.
  • somatic mut
  • chromosome aberrations
  • X chromosome inactivation (female twins)
44
Q

Early death of a twin

A
  • Early death + resorption of 1 twin = common

- Errors prenatal cytogenetic diagnosis

45
Q

Conjoined MZ twins

A
  • Embryonic disc (or other discs) don’t divide > conjoined ts
  • Possible cnxns: cutaneous, liver
  • Surgery can be impossible
46
Q

Superfecundation

A
  • Fertilization of 2 or + oocytes @ 2x
47
Q

Superfetation

A
  • 2 fetuses in uterus from fert @ 2x
48
Q

Ichthyosis

A
  • Group of disorders = excessive keratinization

- Dryness, fishskin-like scaling

49
Q

Harlequin fetus

A
  • Inherited

- Skin is thick, ridged, crack

50
Q

Collodian baby

A
  • Thick taught membrane cover @ birth
  • Cracks w/ 1st respiratory effort
  • Falls off in sheets
51
Q

Lamellar ichthyosis

A
  • Like collodian baby, but scaling remains

- Sweat glands/hair dev impeded

52
Q

Congenital ectodermal displasia

A
  • Hereditary
  • Involving ectodermal tissues
  • Teeth absent
  • Hair nails and skin affected
53
Q

Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEDCS)

A
  • 3 cond: Ectodermal dysplasia, ectrodactyly, facial clefts
54
Q

Ectodermal dysplasia

A
  • Hypopigmentation skin, hair
  • Little hair/eyebrows
  • No eyelashes
  • Nail dystrophy
  • Hypdodontia, microdontia
  • Cleft lip/palate
55
Q

Angiomas of skin

A
  • Vascular anomaly > transitory/surplus blood or lymph vessels persist
  • Mainly arterial, venous, cavernous angiomas (dilation of blood vessels)
56
Q

Port-wine stain

A
  • Hemangioma
  • Large, red
  • Anterior or lateral on face/neck
  • Sharply demarcated when near median plane (doesn’t cross)
  • A port-wine stain in area of trigeminal nerve = angioma of meninges > seizures at birth (Sturge-Weber syndrome)
57
Q

Common angioma

A
  • Pinkish, red blotch

- Can cross median plane

58
Q

Multiple hemangiomas

A
  • May be associated with internal hemangiomas

- Internal maybe affect airways, liver, hematologic disturb.

59
Q

General albinism

A
  • Autosomal recessive

- Skin, hair, retina lack pigment

60
Q

Cause of albinism

A
  • Melanocytes don’t produce melanin due to lack of tyrosinase or other pigment enzyme
61
Q

Localized albinism

A
  • Autosomal dominant

- Lack of melanin in patches of skin or hair

62
Q

Gynecomastia

A
  • Excess dev of male mammary tissue
  • Stim of glandular tissue by maternal sex hormones
  • Effects disappear
63
Q

Athelia

A
  • Absence of nipples
64
Q

Amastia

A
  • Absence of breasts
65
Q

Cause of athelia and amastia

A
  • Failure of dev or disappearance of mammary crests

- Failure of mammary bud to form

66
Q

Aplasia of breast

A
  • Breasts of post pubertal women differ in size (normal)

- Large difference = rudimentary dev thoracic wall muscle

67
Q

Polymastia

A
  • Extra breast

- Dev from extra mammary buds along mammary crest

68
Q

Polythelia

A
  • Extra nipple

- Dev from extra mammary buds along mammary crest

69
Q

Supernumerary nipples

A
  • Common in males
  • Mistaken for moles
  • Dev from extra mammary buds along mammary crest
70
Q

Inverted nipple

A
  • Nipple fails to elevate above skin

- Remain in newborn location

71
Q

Alopecia

A
  • Absence/loss of scalp hair
72
Q

Congenital alopecia

A
  • Hair loss > failure of hair follicle dev / poor quality hair production
73
Q

Hypertrichosis

A
  • Excessive hairiness
  • Supernumerary hair follicles
  • Lanugo hairs
  • Localized or diffuse
74
Q

Pili torti

A
  • Hairs twisted/bend
  • Familial disorder
  • Associated w/ other ectodermal defects
75
Q

Aplastic anonychia

A
  • Congenital absence of nails
  • Nail fields don’t form / no nail plates (permanent)
  • Can associate w/ defects in hair / teeth
  • 1 or more nails, hands or feet
76
Q

Natal teeth

A
  • Teeth erupted @ birth
  • 1/2000
  • Breastfeeding is a bitch!
77
Q

Enamel hypopasia

A
  • Defective enamel formation

- pits and/or fissures in enamel

78
Q

Numerical abnormalities

A
  • 1 =,
79
Q

Dentigerous cyst

A
  • Cyst in mandible, maxilla, or maxillary sinus w/ unerupted tooth
  • Cystic degeneration of enamel reticulum of enamel organ
80
Q

Amelogenesis imperfecta

A
  • 14 clinical entities = dev abnorm in enamel formation
  • Inherited ectodermal birth defect
  • Enamel hypoplastic, hypocalcified, or hypomature
81
Q

Detinogenessi imperfecta

A
  • Teeth = brown or gray
  • Odontoblasts don’t differentiate and poorly calcify dentin
  • Both deciduous and permanent teeth are involved
82
Q

Tetracycline (context = teeth)

A
  • Extensively incorporated into teeth (enamel + dentin)
  • Binds to brown/yellow hydroxyapatite crystals
  • Susceptible: 14 wks to 10 month for deciduous and up to 8 pny for permanent
83
Q

Rickets

A
  • Vit D deficiency > intestinal calcium absorption impaired
  • Formation of ossification of epiphyseal cartilage plates disrupted
  • disorientation of cells at metaphysic
  • Limbs are shortened and deformed, sever bowing
84
Q

Achondorplasia

A
  • Common cause of dwarfism
  • Disturbance of endochondral oss at epiphysial cartilage plates > limbs bowed and short
  • Trunk=short, head=enlarged, bulging forehead, scooped out nose
85
Q

Thanatophoric dysplasia

A
  • Lethal skeletal dysplasia
  • Infants die within minutes from resp failure
  • MUTATED FGF3
86
Q

Hyperpituitarism

A
  • Gigantism: excessive hight/body
  • Acromegaly: enlargement soft tissues, visceral organs, bones of face, hands, feet
  • Epiphysial and diaphysial center in long bones fuse = no elongation of bones
87
Q

Cretinism

A
  • Growth retard, mental def, skel abnorm.
  • Def of fetal thyroid hormone
  • Iodine def in H2O, thyroid agenensis = causes
88
Q

Poland syndrome

A
  • Absence of pec major and minor
  • Ipsilateral breast hypoplasia
  • Absence of 2 - 4 ribs
89
Q

Arthrogryposis multiplex congenital

A
  • Failure of normal muscle development > immobility of joints
  • 1/3000 births
  • Includes > 300 heterogeneous disorders
90
Q

Congenital absence of diaphragm

A
  • Incomplete expansion of lungs (pulmonary atelectasis)

- Pneumonitis (lung tissue inflam)

91
Q

Congenital tortcollis

A
  • Injury to sternocleidomastoid muscle
  • Fibrosis + shortening SCM > fixed rotation, tilting of head
  • AKA WRYNECK
  • Tearing SCM @ birth > bleeding > hematoma > mass of fibrous tissue > ipsilateral shortening
92
Q

Amelia

A
  • Suppression of limb bud dev > Missing limb/limbs
93
Q

Meromelia

A
  • Disturbance of limb dev > Missing PART limb/limbs
94
Q

Cleft hand

A
  • Failure of dev of digital rays > Missing central digits
95
Q

Congenital absence of radius

A
  • Failure of mesenchymal primordial of radius not form (genetic factors) > hand deviates laterally and ulna bows
96
Q

Brachydactyly

A
  • Short digits

- Reduction in phalanx length

97
Q

Polydactyly

A
  • Supernumerary digits

- inherited

98
Q

Cutaneous syndactyly

A
  • Failure of webs b/t fingers to degen > webbed digits
99
Q

Osseus syndactyly

A
  • Notches b/t digital rays fail to develop

- Digits don’t separate

100
Q

Hemimelia

A
  • Lack of pre/post-axial partition of the limb muscles
101
Q

Ectrodactyly

A
  • Missing middle digits of hand
102
Q

Causes of limb anomalies

A
  • Genetic factor
  • Environmental factors (thalidomide)
  • Vascular disruption & ischemia
  • Multifactorial inheritance (genetic + environment)

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