Multifactorial Conditions Flashcards

1
Q

EGA

A

Embryonic genome activation

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2
Q

ESSP

A

Embryonic stage-specific pattern

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3
Q

Week 1 abnormalities

A

Within oocyte or spermatozoa or as a result of combination of the zygote
Generally fail to develop through blastocyst stage

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4
Q

Week 1 abnormality that develops

A

Trisomy 21 (down syndrome)

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5
Q

Week 2 consists of

A

Conceptus, bastocyst differentiation, and X inactivation

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6
Q

HcG - when is it released and what does it do?

A

Human chorionic gonadotropin…released in response to implantation

Initiates materan lhormonal changes, stopping menstruation

Used as a detection ofrm odern pregnancy tests

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7
Q

Day 6-7 what happens?

A

Implantation commences

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8
Q

Adplantation

A

Begins with inital adhesion to uterine epithelium…blastocyst slows and rolls and aligns with ICM closest to epithelium and stops

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9
Q

Implantation and when it happens

A

Migrations of blastocyst into uterine epithelium…complete by day 9

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10
Q

Coagulation plug

A

Left where blastocyst entered uterine wall

Day 12

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11
Q

Normal implantation sites

A

Uterine wall superior, posterior, and lateral

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12
Q

Day 8-9 what happens

A

Differentiation

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13
Q

Differentiation summary

A

Outer trophoblast - syncitotrophoblast and cytotrophoblast
Embryobalst (ICM) - epiplast and hypoblast

State referred to as bilainar embryo

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14
Q

X-inactivation occurs on what day and how?

A

Day 9…presence in female embryos of two XX raises gene dosage…inactivated one of X chromosomes…

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15
Q

All progeny of cell with a particular X chromsome inactivated,

A

Will have same chromosome inactivated

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16
Q

Ectopic pregnancy

A

Abnormal implantation.

Implantation outside the uterus

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17
Q

Hydatidiform moles occur when______

A

Only coneptus trophonlast layers proliferate but not embryoblast

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18
Q

Hydatidiform moles…what happens and how to diagnose?

A

No embyro but tropho secrete hCG

Use US to see no embryo

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19
Q

Week 3

A

Early placentation
Gastrulation
Folding

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20
Q

Day 15-`16

A

Gastrulation

21
Q

Gastrulation

A

Epiblast layer of totipotential cells makes endo,meso, and ectoderm

22
Q

Primitive streak

A

Visible feature representing cell migration

23
Q

Ectoderm becomes

A

Nervous system, epidermis, and neural crest deriv

24
Q

Endo derm becomes

A

GI, rep, uro system and encodrine glands

25
Q

Mesoderm becomes

A

Notochord, axial skeleton, cartilage, connect tissue, trunk muscles, heart, kidneys, and blood

26
Q

What is notochord required for?

A

Patterning surrounding tissues via shh signal (sonic hedgehog)

27
Q

Shh protein does what?

A

Binds to receptors initiating pathways involved in tissue differentiation and velopment

28
Q

Roels of notochord in development

A

Mechanical - influences folding

Morphogenic - secreting shh to regulate development of surrounding tissues

29
Q

Day 17

A

Neurogenesis…nerual groove and folds form

30
Q

Day 21

A

MSK development/cardiogenesis Mesoderm

31
Q

Day 20

A

Neural crest

32
Q

VACTERL assocaition from

A

Mesoderm during early development

33
Q

VACTERL acronym

A
Vertebrae 
Anus 
Cardiac
Tracheoesophageal fistula 
Renal
Limb (radial agenesis)
34
Q

VACTERL diagnosis

A

3 or more anomalies

35
Q

VACTERL Eitiology

A

Unknown but probably multifactorial

36
Q

Vertebral anomalies

A

Hypoplastic vertebra (small)
Hemivertebra (only 1/2 formed)
Can lead to scoliosis

37
Q

Anal abnormalities

A

Anal atresia/imperforate anus

No opening outside of body

38
Q

Cardiac abnormalities

A

VSD, ASD, tetralogy of Fallot

39
Q

Absence of murmur does NOT

A

Rule out congenital heart disease

40
Q

Symptoms of TE fistula

A
Frothy,white bubbles
Coughing or choking
Vomiting
Blue skin 
Difficulty breathing 

SOmetimes paired with congenital heart disease

41
Q

Renal abnormalities

A

Inoomplete formation…urologic abnormalities…one umbilical artery

42
Q

Limb abnormalities

A

Hypoplastic thumb, polydactyly, syndactyly, radial aplasia

43
Q

Severity of VACTERLs

A

Vertebral may not require immediate attention but TE, AA might

Vertebral might let you in on other potential anommalies

44
Q

Age of mother and father effect

A

Older mother - more likely aneuploidy

Older father - more likely sporadic autosomal dominant mutation (achondroplasia)

45
Q

Example of genetic malformation

A

Synpolydactyly

46
Q

Example of environmental malformation

A

REtinoic acid

47
Q

Disruptions are not

A

Inherited

48
Q

Terology of Fallot symptoms

A

Overriding aorta, VSD, pulmonary stenosis