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C21 Phase 1 > Case 7 - Early pregnancy > Flashcards

Case 7 - Early pregnancy Flashcards

1
Q

What type of staining helps you tell chromosomes apart on a micrograph

A

Giemsa staining

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2
Q

What are the and q arms of chromosomes

A 
p = short arm
q = long arm
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3
Q

What is significant about the light bands of chromosomes

A

more transcriptionally active

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4
Q

What is significant about the dark bands of chromosomes

A

less transcriptionally active

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5
Q

Common chromosomal abnormalities in miscarriage

A

Triploidy
Trisomy 16
Turner syndrome

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6
Q

Methods of diagnosing Trisomy 21

A

Nuchal translucency on ultrasound
antenatal screening
Facial appearance at birth

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7
Q

Symptoms of Down’s Syndrome

A 
poor muscle tone
heart malformations
intellectual disability
flattened nose
short stature
increased risk of thyroid disease and congenital heart disease
high rate of dementia in old age
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8
Q

Consequences of mosaicism

A

Milder symptoms

Can make some unviable trisomys viable

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9
Q

What are the viable trisomys

A

18 - life limiting
21 - survivable
13 - significantly life limiting

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10
Q

Why can you survive with monosomy X

A

X inactivation

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11
Q

Chromosomes, treatments and symptoms of Turner syndrome

A

45, X

short stature
broad chest
neck webbing
heart/kidney defects
lack of sexual development in puberty

treatment:
growth hormone in childhood
oestrogen in adolescence
surgery for webbing

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12
Q

Chromosomes, symptoms and treatment of Klinefelter syndrome

A

47, XXY

pubertal gynaecomastia
small testes
delayed/incomplete development of secondary sexual characteristics
infertility
tall stature
motor, language and reading delay
increased risk of x linked conditions
increased risk of 'female' conditions eg, breast cancer

treatment:
surgery for gynaecomastia
testosterone in adolescence

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13
Q

Chromosomes, symptoms and treatment of XYY syndrome

A

47, XXY

tall stature
usually normal intelligence
severe acne
normal fertility
potentially increased aggression/antisocial behaviour
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14
Q

What is a genetic interstitial deletion

A

An interstitial deletion means that the chromosome has broken in two places and the broken ends have fused, leaving out the deleted segment

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15
Q

Give examples of conditions caused by interstitial deletions

A 
Prader-Willi Syndrome
William's syndrome
Miller-Dieker syndrome
Smith-Magenis syndrome
Di George syndrome
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16
Q

what is array-based comparative genomic hybridization used for

A

Detecting deletions, duplications and inversions in genomic material

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17
Q

What is a Robertsonian translocation

A

Occur on acrocentric chromosomes and allows two q arms to fuse and 2 p arms to fuse.

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18
Q

What is variable expression of a phenotype

A

Different presentations of the same genetics

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19
Q

What is reduced penetrance

A

only affects some people, eg age-related

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20
Q

What is sex limitation

A

phenotype only develops in one sex

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21
Q

What is phenocopy

A

occurrence of a condition is not related to family risk due to environmental influence

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22
Q

What is incontinentia pigmenti

  • inheritance pattern
  • appearance of symptoms
A

X linked dominant inheritance

blistering
alopecia
hypodontia
wart-like rash

Due to x inactivation, only affects certain regions of the body in females

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23
Q

How do x linked recessive conditions affect females

A

Due to x inactivation sometimes the affected x chromosomes are activated which can cause mosaicism of the condition

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24
Q

Inheritance of germline mosaicism

A

Affects the gonads so may be passed to future offspring

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25
Q

What is genomic imprinting

A

Genomic imprinting, process wherein a gene is differentially expressed depending on whether it has been inherited from the mother or from the father.

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26
Q

How does prader-willi syndrome show genomic imprinting

A

Inherited from father

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27
Q

How does Angelman syndrome show genomic imprinting

A

inherited from mother

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28
Q

What is uniparental disomy

A

when both chromosomes originate from one parent

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29
Q

Which systems are usually affected by mitochondrial conditions

A

Energy-hungry systems

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30
Q

Antenatal screening available

A 
Early pregnancy ultrasound
Foetal abnormality ultrasound
Blood groups and antibodies
HBV/HCV
Sickle cell
Down's syndrome
HIV
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31
Q

Factors influencing decision to have antenatal screening

A 
personal experience
prior knowledge
beliefs
social background
family and friends
professional bias
age
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32
Q

Purpose of early pregnancy ultrasound

A

Determines date of conception and viability. Observe nuchal translucency as a sign of Down’s Syndrome. Multiple pregnancy can also be detected here.

33
Q

Purpose of foetal abnormality ultrasound

A

Looks for abnormalities and sex of foetus. Terminations may be offered after this point

34
Q

What do booking bloods test for

A 
Early pregnancy blood tests:
Syphilis
HIV
HBV
Rhesus antibodies
Down's syndrome
sickle cell and thalassaemia
FBC 
Blood group
Rubella (no longer routine)
35
Q

What is the Quad test in pregnancy

A

Done at 15-18 weeks, detection rate of 75%, uses maternal blood to look for 4 biomarkers indicative of foetal abnormalities (AFP, hCG, uE3, Inhibin A)

36
Q

What is the combined test in pregnancy

A

Done at 11-14 weeks, detection rate of 85%, uses maternal blood to look for 2 biomarkers indicative of foetal abnormalities (BhCG, PAPP-A)

37
Q

What is chorionic villus sampling

A

CV aspirated through abdomen and tested. Done from 11 weeks, 1-3% risk of miscarriage.

38
Q

What is amniocentesis

A

Sample of amniotic fluid taken from 14 weeks. 1% miscarriage risk, usually available more locally.

39
Q

What is NIPT

A

Non-invasive pre-natal testing

Uses cell-free foetal DNA in maternal blood to test for aneuploidies. 99.9% detection rate, can be used in twin pregnancies, very safe. Expensive.

40
Q

What are the germinal layers of the embryo

A

the outer layer is the ectoderm, the middle layer is the mesoderm, and the innermost layer is the endoderm

41
Q

What does the ectoderm give rise to

A

Epithelial and nervous tissue

42
Q

What does the mesoderm give rise to

A

skeletal system, the muscular system, the excretory system, the circulatory system, the lymphatic system, and the reproductive system

43
Q

What does the endoderm give rise to

A

intestinal tract and its associated structures and glands, the respiratory and urinary tracts and most of the endocrine glands

44
Q

How does initial vasculogenesis work

A

Formation of mesodermal aggregates called blood islands. These blood islands then form endothelial lined vesicles that contain immature blood cells which then join together to form immature vessels

45
Q

How is angiogenesis triggered in the forming embryo

A

Embryonic tissue causes secretion of vascular endothelial growth factor which in turn causes cell proliferation, cell migration and secretion of matrix MMPs

46
Q

How does the heart form embryologically

A

Clusters of cardiac myoblasts and endocardial cells arises from the mesoderm

These clusters form the heart tube. Other clusters begin forming the dorsal aortae

Heart tube folds and with the pericardial cavity, is pushed to the thoracic region

Heart tube develops 5 dilations which will mature into the chambers

Myocardial proliferation begins to form septum and separate the chambers

Some cardiomyocytes undergo depolarisation and become the SA node

47
Q

Changes in foetal anatomy at birth

A

Closure of ductus arteriosus
Closure of foramen ovale
Closure of umbilical artery
Closure of umbilical vein and ductus venosus

48
Q

Examples of congenital heart defects

A 
Septal defects
Heart disease
Patent ductus arteriosus
Transposition of great vessels
Tetralogy of Fallot
49
Q

Defects in tetralogy of fallot

A

Overiding aorta
Pulmonic stenosis
Septal defect
right ventricular hypertrophy

50
Q

Preeclampsia symptoms and treatment

A

Pre-eclampsia onset is usually in the second half of pregnancy or just after birth. Symptoms include hypertension, proteinuria, vision problems, pain below the ribs, severe headaches and oedema. Exacerbating factors may be diabetes, kidney disease, lupus, family history, multiple pregnancies and being over 40

The treatment is to deliver the baby and so its important to monitor the mother so you only deliver at the latest possible moment. Pre-eclampsia can progress to eclampsia which causes fits in the mother and can be fatal to both mother and baby.

51
Q

Risks of conception and pregnancy with geriatric mothers

A

Greater difficulty in initially conceiving a child, with the personal and psychological difficulties that this can cause.
Increased risk of complications for both mother and infant during pregnancy and delivery (although the actual size of the risk may be small).
Greater risk of general maternal health problems, such as high blood pressure, which can contribute to complications.
Higher risk of miscarriage in women above the age of 35.
Higher risk of having twins or triplets, which is itself associated with higher risk of complications.
Increased chance of having a baby with a congenital abnormality, such as Down’s syndrome.
Increased risk of pre-eclampsia.
Increased risk of complications during delivery, such as prolonged labour, need for assisted delivery or Caesarean section, or stillbirth.

52
Q

Effect of consuming alcohol in pregnancy

A 
Behaviour and attention problems
Heart defects
Changes in the shape of the face
Poor growth before and after birth
Poor muscle tone and problems with movement and balance
Problems with thinking and speech
Learning problems
Drinking alcohol appears to be most harmful in the first trimester.
53
Q

When are structural/functional defects most likely to occur in a pregnancy

A

Early trimester 1 - structural

Late trimester 1/early trimester 2 - functional

54
Q

Layers of fetomaternal placental barrier

A

Syncytriotrophoblast
Cytotrophoblast
Basal lamina
Basal lamina of foetal capillary

55
Q

What is pelvic inflammatory disease

A

The abdominal cavity in women, unlike in men, is susceptible to infections and inflammation because it is open to the external environment through the reproductive tract. There is the possibility of bacteria entering via the vagina and travelling up the uterine tubes, thereby causing inflammation. Any infection that follows this path can cause PID. Repeated instances of inflammation can block the uterine tubes and cause infertility

56
Q

What is endometriosis

A

Endometriosis and adenomyosis are two reproductive system diseases that are caused by abnormal growth of the endometrium. The endometrium is the tissue that lines the womb or uterus. When this tissue is formed in other parts of the reproductive system like the outside of the uterus, ovaries or fallopian tubes, the condition is termed as endometriosis. If the growth occurs into the muscles surrounding the uterus, it is called adenomyosis. Since all endometrium tissue is pushed out of the body with the completion of the menstrual cycle, abnormal growth can lead to cyclic pain in the abdomen or pelvis.

57
Q

What is PCOS

A

This syndrome is caused when the ovaries produce high levels of a particular class of hormones, namely androgens. This increase in hormone levels can hamper the ovulation process and lead to cysts on the ovaries. It can also cause infertility by affecting the release of the ovarian egg in the menstrual cycle. Some symptoms are hair loss, acne, pain in the pelvic region, oily skin, and increases in facial or body hair growth. There is no cure for this female reproductive system disease yet, but the hormone production can be controlled and skin cleared up with hormone therapy.

58
Q

What are uterine fibroids

A

Sometimes it is possible that tumours grow in the muscular wall of the uterus; however, these tumours are not cancerous. They are called uterine fibroids and can cause increased urination, pain in the lower back, heavy bleeding and pain during the menstrual period, pain during intercourse, miscarriages and infertility. Surgery and pain relief methods are used to treat this condition. The Centers for Disease Control and Prevention (CDC) state that around 20 percent of women younger than 50 years of age develop such tumours.

59
Q

Physical aftereffects of pregnancy

A

Incontinence
Separated stomach muscles
Back pain
Prolapse

60
Q

What are postpartum blues

A

Occurs within 1 week following delivery

50-70% incidence rate

Causes tearfulness, anxiety and insomnia

Usually resolves on its own and is the results of hormonal changes

61
Q

What is postnatal depression

A

Insidious onset 2-3 months post birth

10-15% incidence rate

Causes excessive insomnia, anxiety and depressed mood

Usually requires medication or CBT/counselling

62
Q

What is postpartum psychosis

A

Onset 2-4 weeks after birth

0.1-0.2% incidence rate

Causes agitation, euphoria, delusions, disorganised behaviour, depressed mood and irritability

Medical emergency, often requiring temporary hospitalization and medication

63
Q

hCG in pregnancy

A

Increased to peak at around 16 weeks and then gradually decreases

64
Q

Progesterone in pregnancy

A

Remains relatively low and then peaks around 5 weeks before delivery before falling again

65
Q

Oestrogen in pregnancy

A

Increases throughout pregnancy and peaks around 5 weeks before delivery before suddenly dropping off at birth

66
Q

Prolactin in pregnancy

A

Increases throughout

67
Q

Relaxin in pregnancy

A

Peak in first trimester then gradually decreases

68
Q

Oxytocin in pregnancy

A

Peaks just before birth

69
Q

Symptoms of pregnancy

A 
Morning sickness could be caused by changes in hormone levels and blood pressure.
Tiredness is caused by hormonal changes.
Sore breasts
Frequent urination
Strange tastes, smells and cravings
70
Q

Nutrition in pregnancy

A

400 micrograms of folic acid every day – from before you’re pregnant until you’re 12 weeks pregnant – to avoid spina bifida

Vitamin D – a supplement of vitamin D is recommended for most adults between September and March anyway, promotes strong bones.

Iron – pregnant women can become anaemic, and pregnancy can exacerbate pre-existing anaemia.

Vegetarians and vegans should take B12 and iron in pregnancy

71
Q

Medication in pregnancy (general advice)

A

If a mother is on medication for her own health, ie anti-depressants, epilepsy medications, then a consultation with their GP is needed to determine the risk-benefit of continuing to take their medication. Generally all medication should be avoided, including painkillers.

72
Q

What are examples of high risk pregnancies

A

Advanced maternal age
Lifestyle of mother (drinking/drugs/smoking)
Hypertension, diabetes, heart disease of mother
Rhesus sensitisation
Multiple pregnancy
Previous pre-eclampsia
Previous premature birth
An abnormal ultrasound or abnormal lab screens
A family history of certain birth defects
Previously had a child or pregnancy with a birth defect

73
Q

What are the abortifacient drugs

A

Mifepristone followed by misoprostol. Mifepristone can cause heavy vaginal bleeding and bacterial infections. Misoprostol can cause diarrhoea and abdominal pain and in rare cases uterine rupture.

74
Q

Placental pathologies

A

Placenta accreta, when the placenta implants too deeply, all the way to the actual muscle of uterine wall (without penetrating it)

Placenta praevia, when the placement of the placenta is too close to or blocks the cervix

Placental abruption/abruptio placentae, premature detachment of the placenta

75
Q

What is the placenta needed for

A

Respiration

Nutrition

Excretion

Protection

Endocrine

Immunity

76
Q

Purpose of human placental lactogen hPL

A

Regulates amount of glucose available for baby

Causes mother to use more fats to produce her own energy (decreases maternal insulin sensitivity) and decrease use of her glucose

Glucose required for growth of baby

Increases in amount along pregnancy

Released by syncitiothrophoblast

Proliferates breast tissue in preparation for breast feeding

77
Q

Types of surgical abortion

A

Aspiration abortions (the most common type of surgical abortion)

dilation and evacuation (D&E) abortions

78
Q

Which type of abortion is most appropriate when?

A

If a woman is 10 or more weeks into her pregnancy, she is no longer eligible for a medical abortion. Women up to 15 weeks pregnant can have an aspiration abortion, while D&E abortions are typically performed at 15 weeks or after.

79
Q

Potential complications of surgical abortions

A

Infection: can be serious and may require hospitalization. Symptoms include fever, abdominal pain, and unpleasant-smelling vaginal discharge. The chance of infection increases if you have a sexually transmitted infection.

Cervical tears or lacerations: can often be resolved with stitches after the procedure if necessary.

Uterine perforation: which can occur when an instrument punctures the uterine wall.

Hemorrhaging: which can result in bleeding sufficient that a blood transfusion or hospitalization is needed.

Retained products of conception: when part of the pregnancy is not removed.

Allergic or adverse reactions to medications: including pain medication, sedatives, anesthesia, antibiotics, and/or dilation medication.

C21 Phase 1 (45 decks)

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