Multifactorial Conditions

Question 1

EGA

Answer 1

Embryonic genome activation

Question 2

ESSP

Answer 2

Embryonic stage-specific pattern

Question 3

Week 1 abnormalities

Answer 3

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

Question 4

Week 1 abnormality that develops

Answer 4

Trisomy 21 (down syndrome)

Question 5

Week 2 consists of

Answer 5

Conceptus, bastocyst differentiation, and X inactivation

Question 6

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

Answer 6

Human chorionic gonadotropin…released in response to implantation

Initiates materan lhormonal changes, stopping menstruation

Used as a detection ofrm odern pregnancy tests

Question 7

Day 6-7 what happens?

Answer 7

Implantation commences

Question 8

Adplantation

Answer 8

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

Question 9

Implantation and when it happens

Answer 9

Migrations of blastocyst into uterine epithelium…complete by day 9

Question 10

Coagulation plug

Answer 10

Left where blastocyst entered uterine wall

Day 12

Question 11

Normal implantation sites

Answer 11

Uterine wall superior, posterior, and lateral

Question 12

Day 8-9 what happens

Answer 12

Differentiation

Question 13

Differentiation summary

Answer 13

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

State referred to as bilainar embryo

Question 14

X-inactivation occurs on what day and how?

Answer 14

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

Question 15

All progeny of cell with a particular X chromsome inactivated,

Answer 15

Will have same chromosome inactivated

Question 16

Ectopic pregnancy

Answer 16

Abnormal implantation.

Implantation outside the uterus

Question 17

Hydatidiform moles occur when______

Answer 17

Only coneptus trophonlast layers proliferate but not embryoblast

Question 18

Hydatidiform moles…what happens and how to diagnose?

Answer 18

No embyro but tropho secrete hCG

Use US to see no embryo

Question 19

Week 3

Answer 19

Early placentation
Gastrulation
Folding

Question 20

Day 15-`16

Answer 20

Gastrulation

Question 21

Gastrulation

Answer 21

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

Question 22

Primitive streak

Answer 22

Visible feature representing cell migration

Question 23

Ectoderm becomes

Answer 23

Nervous system, epidermis, and neural crest deriv

Question 24

Endo derm becomes

Answer 24

GI, rep, uro system and encodrine glands

Question 25

Mesoderm becomes

Answer 25

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

Question 26

What is notochord required for?

Answer 26

Patterning surrounding tissues via shh signal (sonic hedgehog)

Question 27

Shh protein does what?

Answer 27

Binds to receptors initiating pathways involved in tissue differentiation and velopment

Question 28

Roels of notochord in development

Answer 28

Mechanical - influences folding | Morphogenic - secreting shh to regulate development of surrounding tissues

Question 29

Day 17

Answer 29

Neurogenesis...nerual groove and folds form

Question 30

Day 21

Answer 30

MSK development/cardiogenesis Mesoderm

Question 31

Day 20

Answer 31

Neural crest

Question 32

VACTERL assocaition from

Answer 32

Mesoderm during early development

Question 33

VACTERL acronym

Answer 33

``` Vertebrae Anus Cardiac Tracheoesophageal fistula Renal Limb (radial agenesis) ```

Question 34

VACTERL diagnosis

Answer 34

3 or more anomalies

Question 35

VACTERL Eitiology

Answer 35

Unknown but probably multifactorial

Question 36

Vertebral anomalies

Answer 36

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

Question 37

Anal abnormalities

Answer 37

Anal atresia/imperforate anus | No opening outside of body

Question 38

Cardiac abnormalities

Answer 38

VSD, ASD, tetralogy of Fallot

Question 39

Absence of murmur does NOT

Answer 39

Rule out congenital heart disease

Question 40

Symptoms of TE fistula

Answer 40

``` Frothy,white bubbles Coughing or choking Vomiting Blue skin Difficulty breathing ``` SOmetimes paired with congenital heart disease

Question 41

Renal abnormalities

Answer 41

Inoomplete formation...urologic abnormalities...one umbilical artery

Question 42

Limb abnormalities

Answer 42

Hypoplastic thumb, polydactyly, syndactyly, radial aplasia

Question 43

Severity of VACTERLs

Answer 43

Vertebral may not require immediate attention but TE, AA might Vertebral might let you in on other potential anommalies

Question 44

Age of mother and father effect

Answer 44

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

Question 45

Example of genetic malformation

Answer 45

Synpolydactyly

Question 46

Example of environmental malformation

Answer 46

REtinoic acid

Question 47

Disruptions are not

Answer 47

Inherited

Question 48

Terology of Fallot symptoms

Answer 48

Overriding aorta, VSD, pulmonary stenosis