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Human Repro > Lecture 12 > Flashcards

Lecture 12 Flashcards

1
Q

embryo

A

conception to end at 9th week post LMP

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2
Q

fetal

A

10 weeks +

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3
Q

LMP

A

1st day of LMP

scan offered at 8-10 weeks

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4
Q

first signs of pregnancy

A

missed period

common symptoms - sickness/ bloating

due to hormone changes (hCG, estrogen and progesterone)

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5
Q

implantation

A

cervix closes womb but increasing mucus so endometrium can continue to develop

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6
Q

pregnancy diagnosis

A

urine tests

blood tests - hCG doubles in 48 hours

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7
Q

hCG decrease

A

when placenta takes over

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8
Q

ultrasound

A

freq 2-20mHZ
2D/3D/4D

pulse reflected at tissue interfaces - strength of reflection depends on tissue density

fat attenuates return signal

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9
Q

advantages of ultrasound

A

safe
very experienced
safe

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10
Q

ultrasound uses

A

diagnosis
screening
surveillance

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11
Q

ultrasound risks

A

heat

cavitation

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12
Q

1st trimester USS

A

transabdominal (TA)
transvaginal (TV)

thickened endometrium is a good indication but not a diagnostic

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13
Q

thickened endometrium can be seen in

A

1st trimester
late luteal phase
decidual reaction in an ectopic pregnancy
retained products of conception (miscarriage)

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14
Q

early USS

A 
gestation sac 
day 12-13 of development 
chorionic cavity 
decidual reaction 
TV - time of missed period 
TA - 5 weeks post period
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15
Q

yolk sac

A

mesoderm that gives rise to blood vessels and blood cells

provides nutrients

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16
Q

yolk sac visible from

A

37 days post LMP

initially very close to foetus

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17
Q

yolk sac after 45 days

A

growth
enlargement of amniotic cavity
not visible after 11 weeks

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18
Q

when is pregnancy viable

A

heart pulsations can be visualised within gestation sac

TV - 5.5 weeks post LMP
TA - 6 weeks post LMP

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19
Q

embryogenesis

A

differentiation
migration
folding

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20
Q

when does embryogenesis occur

A

trilaminar embryo week 3

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21
Q

brain and spinal cord origin

A

neural plate develops from ectoderm day 18-19

neural tube closes day 27

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22
Q

heart formation

A

mesenchyme cord canalsies week 4

dilates and constriction to form 4 chambers in weeks 4-7

23
Q

all major organs form by

A

week 6-10

24
Q

teratogenesis

A

developmental defects by a chemical agent

dose dependent, exposure

smoking/ drugs/ alcohol/ thalaminde

25
Q

first trimester complications

A

experience bleeding - normal, ectopic or miscarriage

26
Q

miscarriage

A

90% of chromosomal abnormalities that implant

60% of all 1st trimester miscarriages are chromosomal abnormalities

93% normal chromosomes carry on

27
Q

normal embryos that miscarry

A

maternal abnormalities:

  • poor decidualisation
  • spiral arteries restrict remodelling
  • failure of immune recognition
  • blood clotting system fails
28
Q

implantation stats

A

70% implant
60% recognised as pregnancies
50% go on to live birth

29
Q

ectopic pregnancies

A

embryos that implant outside the uterus (broad ligaments)

30
Q

ectopic risks

A

haemorrhage - rupture and internal

10 reported deaths

31
Q

ectopic diagnostics

A

hCG
progesterone
USS
aneuploidy screen

32
Q

abnormal karyotype

A

monosomy and trisomy causes by errors meiosis and fail before or after implantation

33
Q

trisomy 21

A

downs

1:600

34
Q

trisomy 13

A

pataus

1:5000

35
Q

trisomy 18

A

edwards

1:3000

36
Q

to reduce risk of trisomy

A

use younger persons oocytes

ART/ IVF

37
Q

chromosomal abnormalities stats

A

oocytes - 20%
sperm - 7%
human zygotes - 40%
blastocysts - 50%

38
Q

nuchal translucency

A

back of foetal neck has translucent material
size increase after 11 weeks by 0.37cm
blood tests and screens

39
Q

problems with screening

A

high risk 1:150
invasive can cause miscarriage
QT-PCR for trisomy

40
Q

diagnostic testing for abnormalities

A

aminocentesis
CVS
withdraw fluid from baby at 15 weeks

41
Q

QT PCR

A

short tandem repeats to detect copy number

targets whole chromosome markers

rapid results - 2 days

42
Q

out dated tests

A

FISH

full karyotype

43
Q

non-invasive prenatal test (NIPT)

A

cell free foetal DNA (cffDNA) derived from foetus via mother’s plasma

4-5 weeks detection and quantified at 10 weeks

44
Q

cfDNA and karyotype

A

used for haemophilia, Rhesus disease and aneuploidy

45
Q

MELISSA STUDY

A

no false positives
highly sensitive to trisomy
private UK and US

46
Q

second trimester screening

A

foetus is fully formed

no further organogenesis

47
Q

anomaly scan

A

18-20 weeks
aneuploidy
pre term labour
placental problems

48
Q

exomphalos

A

gut stays outside

49
Q

during 18 weeks gut

A

gut exteriorises and then rotates and goes back in

50
Q

gastroschisis anomaly

A

abdominal wall defect
invasive test
aminocetetsis
QT PCR

51
Q

CGH - microarray comparative genetic hybridisation

A

oligonucleotides probes representing whole genome on a glass slide (25-75bp)

Fluorscently labelled DNA from patient compared to reference pool DNA labelled with flurochrome

52
Q

PGT - pre-implantation genetic testing

A

used with families with known genetic abnormalities

performed in ART of IVF

take 2 blastomeres which the embryo will be able to reproduce - undergo CGH

53
Q

future tech

A

high resolution chromosomal analysis of cffDNA

next gen sequencing to detect single nucleotide polymorphisms

54
Q

NGS problems

A

expensive

time consuming

Human Repro (11 decks)

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