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Embryology (clinical Anatomy) > practical 1: gametogenesis, ARTs + CVS development > Flashcards

practical 1: gametogenesis, ARTs + CVS development Flashcards

1
Q

How do primordial germ cells arise and what do they do?

A

Arise from the epiblast layer of the bilaminar disc

Migrate in 4th week to genital ridge of the primitive gonads (arrive 5th week)

They are pluripotent

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2
Q

What is a trisomy?

A

It is a form of aneuploidy where an extra chromosome is present

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3
Q

What is a syndrome?

A

A group of symptoms/signs that occur together with a common cause

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4
Q

What is the incidence of Edward’s syndrome?

A

1/5000 live births

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5
Q

What is the prognosis of Edward’s syndrome?

A

85% lost by 10weeks gestation

most die at 2mths

5% live past 1yr

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6
Q

What are the clinical features of Edward’s?

A

low-set ears (malformed), microcephaly, CHDs, small mouth, deficient manible (micrognathia), learning dis, CLPs

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7
Q

What is the incidence of patau’s (T13)?

A

1/20,000 live births

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8
Q

What clinical features are present in patau’s?

A

learning dis, HPE, CHD, deafness, CLP, eye defects (e.g. micophthalmia), polydactyly

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9
Q

what is the prognosis of patau’s?

A

90 % die by 1mth (5% live beyond 1 yr)

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10
Q

What is kleinfelter syndrome? What is its most common cause?

A

XXY (extra X chromosome)

Caused by non-dysjunction of XX homologues in gametogenesis (most common) –> therefore maternal cause

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11
Q

Give an example of a structural chromosomal abnormality?

A

Prader-willi syndrome, fragile X syndrome, Angelman syndrome

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12
Q

What is the cause of prader-willi syndrome?

A

Microdeletion of paternal long arm chromosome 15

N.B. may need to spot on the karyotype

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13
Q

What is the incidence of prader-willi syndrome?

A

1/15000 live births

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14
Q

what is the incidence of kleinfelter’s syndrome?

A

1/500 live births

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15
Q

Define zygote?

A

a cell formed from fertilsation of an oocyte and sperm (has the diploid number of chromosomes)

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16
Q

Define morula

A

16 cell stage in development

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17
Q

Define blastocyst

A

when a blastocele forms w/in the morula forming an ICM and outer trophoblast

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18
Q

Where does fertilisation normally occur?

A

Ampulla of the uterine tube

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19
Q

When does implantation occur?

A

6-7 days AFTER fertilisation

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20
Q

Where does implantation normally occur?

A

anterior or posterior uterine wall

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21
Q

5 risk factors of ectopic pregnancy

A

Coil, c-section/uterine surgery, endometriosis, previous ectopic, smoking, PID, salpingotomy

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22
Q

Signs and symptoms of ectopic

A

asymptomatic

bleeding (vaginal), lower abdo pain (commonest), brown vaginal discharge, shoulder tip pain

if rupture –> haemodynamically unstable (hypotension, tachy, low BP, pallor, ^ CRT, signs of peritonitis)

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23
Q

Investigation/managment approach to ectopic?

A

Pregnancy test (urinary) –> pelvic USS if +ve –> if can’t find on US then pregnancy of unknown location –> serum beta hCG

medical: IM methotrexate, serum hCG monitored

surgical (^^^^ hCG): laparscopic salpingectomy (salpingotomy if problem w/ other tube)

Or conservative watchful waiting if very low hCG/stable

if haemodynamically unstable (resuscitate using ABCDE approach)

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24
Q

What is a lithopedian? how does it occur?

A

“stone baby” –> when a fetus is lost in pregnancy (early on) + calcifies

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25
Q

What is the incidence of endometriosis?

A

1/10 (reproductive age)

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26
Q

What happens in endometriosis?

A

Growth of endometrial tissue in sites outside of the uterus (oestrogen dependent)

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27
Q

What are some sites of endometriosis?

A

colon, lung, peritoneum, ovaries, urinary tract, umbilicus, cul-de-sac

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28
Q

What are the symptoms of endometriosis?

A

Symptoms occur during menstruation

can be asymptomatic

CYCLICAL PELVIC PAIN = common (dysmenorrhea)

subfertility

constant pain if adhesions formed

Other symptoms based on site of ectopic endometrial tissue: deep dyspareunia, dysuria, dyschezia (painful defacation)

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29
Q

Why does endometriosis cause/increase risk of subfertility?

A

Adhesions in the uterine tubes

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30
Q

what are some complications of endometriosis?

A

Ectopic pregnancy

subfertility

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31
Q

What is a hormonal cause of subfertility in women?

A

PCOS

32
Q

give 9 different ARTs?

A 
intrauterine insemination
ICSI
Intracytoplasmic morphologically selected sperm
IVF
In vitro maturation of oocytes
GIFT: gamete intrafollopian transfer
ZIFT: zygote intrafollopian transfer
Uterine transplant
mitochondrial transfer
33
Q

If a man has obstructive reasons for infertility, what can be done?

A

Surgical retrieval of sperm PESA (percutaenous epidydimal sperm aspiration) or TESA (testicular sperm aspiration)

34
Q

What is intrauterine insemination indicated for?

A

Anti-sperm antibodies

35
Q

What is intracytoplasmic sperm injection (ICSI) indicated for?

A

Severe male infertility (i.e. morphology, motility and low sperm count problems)

36
Q

What is in vitro maturation of oocytes? Who is it good for?

A

This is similar to IVF but avoids risk of OHSS (doesn’t use gonadotropins) –> oocytes are retrieved during cycles (disadv: retrieves less eggs than IVF)

so is therefore good for women at risk of OHSS (e.g. PCOS)

37
Q

What is GIFT? What is GIFT good for?

A

Religious people as fertilisation occurs in the body

Gametes placed in catheter + injected into fallopian tube

38
Q

When do the progenitor heart cells produce the primary heart field in the LPM?

A

Day 16-18

39
Q

What do Primary heart field become?

A

atria, LV, most of RV

40
Q

When does the 2HF form? what does it become?

A

Day 20-21

forms the rest of the RV + outflow tracks

41
Q

When does the heart tube bend/loop?

A

day 23-28

42
Q

when do the major septa of the heart develop?

A

Day 27-37

43
Q

What separates the L + R atria?

A

septum primum and then septum secundum forms

44
Q

What contributes to lengthening of the outflow tracts?

A

NCCs

45
Q

What is the difference between acyanotic and cyanotic heart disease?

A

opposite type of shunting

46
Q

What is the F. ovale function?

A

allows blunt to shunt from R–>L to bypass lungs in fetal circulation

if remains patent + large –> acyanotic heart disease

47
Q

What are the two causes of dextrocardia? How can you differentiate them

A

1) abnormal gastrulation (very early on) –> situs invertus would be present
2) abnormal cardiac looping (situs invertus not present)

48
Q

What are the problems of dextrocardia?

A

Pulmonary and cardiac disease ^ risk

49
Q

Why are SSRIs linked to ^ risk of dextrocardia/laterality defects?

A

Disrupt 5-HT pathways –> 5HT important in establishing laterality (L/R axis) [left sidedness]

50
Q

What do 20% of people w/ situs invertus have?

A

Kartanger’s syndrome (abnormal cilia) –> bronchiectasis, chronic sinusitis

51
Q

what is the incidence of ASDs? Do they occur equally in males and females?

A
  1. 4/10,000 births

2: 1 F:M

52
Q

What are the different types of ASD?

A

Patent F. ovale
ostium secundum defect –> either septum primum or secundum is affected
Cor triloculare biventriculare (complete absence)

53
Q

What are the problems of ASDs?

A

pulm HTN –> RVH –> Eisenmenger syndrome

54
Q

What are the two types of VSD? which is more common?

A

Menbranous and muscular. Muscular is more common but less serious

55
Q

What is the incidence of VSD?

A

12/10000 births

56
Q

what is the consequence of a large VSD?

A

Pulmonary HTN

57
Q

What is Eisenmenger syndrome?

A

Reversal of the L–>R shunt to R–>L

58
Q

How does common truncus arteriosus occur and what are the consequences for the fetus?

A

conotruncal divisions fail to form so no separation of the Ao and pulmonary trunk

consequences: mixing of oxyg./deox. blood –> cyonsosis

59
Q

why might a fetus with outflow tract abnormalities have craniofacial malformations?

why might they not?

A

NCCs are involved with craniofacial development [FACIAL SKELETON] but also development of the heart (signalling of the 2HF). Therefroe problems w/ NCCs cause both cardiac and craniofacial abnormalities (e.g. treacher collins syndrome)

if the cause is due to the 2HF problems rather than NCC

60
Q

How does transposition of the great vessels occur?

A

conotruncal septum fails to follow its normal spiral course + runs straight down

this means RV connects to Ao and LV connects to Pulmonary trunk

61
Q

What are the 4 features of TOF?

A

VSD
RVH
Pulmonary stenosis
overriding aorta (Ao positioned directly over VSD)

62
Q

What is the incidence of TOF?

A

9.6/10,000 births

63
Q

What are the clinical consequences of TOF?

A

Mixing of blood (overriding Ao) lead to a cyanotic baby

64
Q

What occurs to the internal thoracic arteries in coarctation of the aorta?

A

Dilation as blood takes different route to lower limbs (subclavian –> ITA –> …)

65
Q

What monosomy is associated with Coarctation of the aorta?

A

Turner’s syndrome

66
Q

what would post-ductal coarctation present?

A

even w/ the ductus arteriosus patent –> hypotension in the legs

post-ductal is more common and is associated with collateral circulation

67
Q

When does gastrulation take place?

A

week 3 beginning (d 14)

68
Q

What are the types of acyanotic CHD?

A
  1. Increased pulmonary blood flow (L–>R) –> VSD, ASD, PDA

2. Obstrcution to flow from ventricles –> e.g. pulmonary/Ao stenosis, coarctation Ao

69
Q

What are the types of cyanotic CHD?

A
  1. Decreased pulmonary flow –> e.g. TOF, Tricuspid atresia, pulmonary atresia
  2. Mixed flow –> TOF, Common truncus arteriosus, HLHS, Transposition of the great vessels, total anomalous pulmonary venous return
70
Q

What are the features of hypoplastic left heart syndrome?

A

Underdeveloped LV
Small Ao
ASD
PDA

71
Q

What are some signs of kleinfelter’s syndrome?

A

Gynaecomastia
small testis
infertility
Low IQ

72
Q

What chromosomal abnormality is seen in DiGeorge syndrome?

A

microdeletion 22q11

73
Q

What are the different types of chromosomal abnormalities?

A

Numerical: trisomy, monosomy

Structural: fragile sites, deletions

74
Q

What is Jacob’s syndrome?

A

XYY (triploidy - extra Y chromosome)

75
Q

What is severe male infertility?

A

Abnormal morphology
abnormal motility
low sperm count

Embryology (clinical Anatomy) (9 decks)

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