14B - Pre-Pregnancy Counselling Flashcards
(111 cards)
1
Q
What day is considered day 0 of pregnancy?
A
The day of ovulation.
2
Q
What structure forms after ovulation from the ovarian follicle?
A
Corpus luteum.
3
Q
When does fertilization usually occur?
A
Within 12–24 hours after ovulation (Day 1).
4
Q
What is the structure formed by dividing cells on Day 4?
A
Blastocyst.
5
Q
When does implantation typically occur?
A
Around Day 5-6.
6
Q
Which cells of the blastocyst become the fetus?
A
Inner cell mass.
7
Q
Which cells of the blastocyst form the placenta?
A
Trophoblast cells.
8
Q
What hormone is produced by the trophoblast around Day 8?
A
Human chorionic gonadotropin (hCG).
9
Q
What is the function of hCG?
A
Maintains the corpus luteum to continue producing estrogen and progesterone.
10
Q
When does hCG peak?
A
Around Week 9.
11
Q
What hormone takes over hormone production after the corpus luteum degenerates?
A
The placenta.
12
Q
Which placental hormone helps ensure glucose availability for the fetus?
A
Human placental lactogen (hPL).
13
Q
How many weeks is pregnancy measured from the last menstrual period (LMP)?
A
40 weeks.
14
Q
How many weeks from ovulation?
A
Approximately 38 weeks.
15
Q
Where is the uterus by 20 weeks?
A
Level of the umbilicus.
16
Q
Where is the uterus by 36 weeks?
A
Xiphoid process.
17
Q
How is fundal height used clinically?
A
As an estimate of gestational age (in cm ≈ weeks).
18
Q
By how much does blood volume increase in pregnancy?
A
30–50%.
19
Q
What causes physiological anemia in pregnancy?
A
Plasma volume increases more than red blood cell mass.
20
Q
What happens to heart rate in pregnancy?
A
Increases by ~20 bpm.
21
Q
What common heart sounds are heard in pregnancy?
A
Physiologic S3 and split S1.
22
Q
What happens to blood pressure in early pregnancy?
A
Slightly decreases due to vasodilation from progesterone.
23
Q
What happens to GFR and urinary output during pregnancy?
A
Both increase.
24
Q
What structural changes occur in the urinary tract?
A
Hydronephrosis and hydroureter due to uterine compression and progesterone.
25
Why are pregnant women at higher risk for UTIs?
Urinary stasis due to hypomotility and dilated ureters.
26
How does pregnancy affect breathing mechanics?
Diaphragm is elevated; rib cage expands.
27
What happens to tidal volume and minute ventilation?
Both increase.
28
What acid-base change occurs in pregnancy?
Mild respiratory alkalosis.
29
Why is mild alkalosis beneficial?
Enhances gas exchange across the placenta.
30
Which hormones loosen ligaments during pregnancy?
Relaxin and progesterone.
31
What causes the waddling gait?
Loosened pelvic ligaments.
32
What spinal curvature may develop in late pregnancy?
Lordosis.
33
What is diastasis recti?
Separation of abdominal muscles due to uterine pressure.
34
What causes constipation in pregnancy?
Decreased peristalsis due to progesterone.
35
What causes heartburn in pregnancy?
Relaxation of the lower esophageal sphincter.
36
What helps manage morning sickness?
Vitamin B6 (pyridoxine), or B6 + doxylamine.
37
What is pica?
Craving for non-food items like ice, dirt, or starch.
38
What mood-related symptoms are common in pregnancy?
Anxiety, depression, irritability, and “pregnancy brain.”
39
What hormone causes skin darkening?
Melanocyte-stimulating hormone (MSH).
40
What is the linea nigra?
Darkened line from xiphoid to pubis due to melanocyte stimulation.
41
What causes darkening of the areolae?
Increased melanocyte activity.
42
What hormone stimulates milk production?
Prolactin.
43
Why doesn’t milk “let down” during pregnancy?
Progesterone inhibits prolactin’s effect until after delivery.
44
What pituitary hormone increases metabolic rate in pregnancy?
Thyroid hormone.
45
Why is pregnancy a hypercoagulable state?
Increased clotting factors, fibrinogen, and platelet activity; decreased antithrombin III.
46
What risk is associated with hypercoagulability?
Increased risk of venous thromboembolism (VTE).
47
How much weight gain is typical in pregnancy?
25–35 pounds.
48
What contributes most to pregnancy weight gain?
Increased blood volume, fetus, fat stores, uterus, and placenta.
49
What is pre-conception counselling?
A medical consultation before pregnancy to assess and manage risk factors that could affect pregnancy outcomes.
50
What is aneuploidy?
A condition in which there is an abnormal number of chromosomes in a cell.
51
What causes Down syndrome (Trisomy 21)?
The presence of an extra copy of chromosome 21.
52
What is Trisomy 18 (Edwards syndrome)?
A severe genetic disorder caused by an extra copy of chromosome 18, often resulting in high infant mortality.
53
What is Trisomy 13 (Patau syndrome)?
A chromosomal disorder caused by an extra copy of chromosome 13, associated with severe birth defects.
54
What is NIPT (Non-Invasive Prenatal Testing)?
A blood test that analyzes fetal DNA in maternal blood to screen for chromosomal abnormalities.
55
What is chorionic villus sampling (CVS)?
A diagnostic test that samples placental tissue to detect genetic or chromosomal conditions.
56
What is amniocentesis used for?
To test amniotic fluid for genetic and chromosomal abnormalities in a fetus.
57
What does MCV measure?
The average size of red blood cells.
58
What does MCH measure?
The average amount of hemoglobin per red blood cell.
59
What is ferritin and why is it important?
A protein that stores iron; low levels indicate iron deficiency.
60
What does TSH test for?
Thyroid-stimulating hormone levels, used to assess thyroid function.
61
What does a negative Rubella IgG test mean?
The person is not immune to rubella and should be vaccinated before pregnancy.
62
What does a negative Varicella IgG test indicate?
The person is not immune to chickenpox and should receive vaccination pre-pregnancy.
63
What does a BMI of 34 indicate?
Class I obesity.
64
What is Spinal Muscular Atrophy (SMA)?
A genetic disorder causing progressive muscle weakness due to motor neuron loss.
65
What is carrier screening?
Genetic testing to identify if a person carries a gene for an inherited condition.
66
What is autosomal recessive inheritance?
A condition where both copies of a gene must be altered for the disease to manifest.
67
Why is folic acid important before pregnancy?
It reduces the risk of neural tube defects in the fetus.
68
What is Sertraline used for, and is it safe in pregnancy?
An antidepressant (SSRI); generally considered safe with monitoring in pregnancy.
69
What does TGA pregnancy Category C mean?
Drugs that may harm the fetus but do not cause malformations; used if benefits outweigh risks.
70
What is the cervical screening test for?
Detecting HPV infection or early signs of cervical cancer.
71
What does transferrin saturation indicate?
The percentage of iron-binding sites on transferrin that are occupied by iron.
72
What is a Full Blood Count (FBC) used to assess?
Levels of red cells, white cells, and platelets to detect anemia, infection, or other conditions.
73
What is iron deficiency anemia?
A type of anemia caused by insufficient iron, leading to low red blood cell production.
74
What defines infertility?
The inability to conceive after 12 months (or 6 months if over age 35) of unprotected intercourse.
75
What is a live attenuated vaccine and why is it important in pregnancy planning?
A vaccine made from a weakened virus; should not be given during pregnancy due to risk of fetal infection.
76
What is the role of genetic counselling?
To assess the risk of inherited conditions and guide reproductive decision-making.
77
What % of couples attend pre-pregnancy counselling?
~20–40%, despite recommendations.
78
How can preconception visit attendance be improved?
Public awareness, GP reminders, routine women's health integration, school education.
79
Key benefits of a pre-pregnancy visit?
Manage risks, review medications, update vaccines, supplement advice, genetic counselling, fertility education.
80
Important history to ask during counselling?
Menstrual, obstetric, sexual, mental health, lifestyle, medical/surgical, family history.
81
How does increasing maternal age affect pregnancy?
↓ fertility, ↑ miscarriage, ↑ GDM, preeclampsia, trisomies.
82
Common trisomies screened in pregnancy?
T21 (Down), T18 (Edwards), T13 (Patau).
83
Compare aneuploidy screening tests.
Combined First Trimester (11–13 wks): ~85%, Medicare
NIPT (from 10 wks): >99%, ~$400–500
CVS/Amnio: Diagnostic, invasive, public-funded if high-risk
84
Reasons to choose or avoid screening?
Choose = early info/prep; Avoid = anxiety, cost, moral objections.
85
What pregnancy category is Sertraline?
Category C – use with monitoring.
86
Risks of untreated depression vs. Sertraline?
Untreated depression = worse outcomes; Sertraline = relatively safe, often continued.
87
Key supplements before conception?
Folic acid, iodine, iron, B12 (if vegetarian), omega-3.
88
Physical exam focus in preconception visit?
BMI, BP, signs of anaemia or thyroid issues, cervical screening.
89
BMI = 34. What does this mean?
Obese Class I; ↑ risk of GDM, preeclampsia, infertility, macrosomia.
90
Preconception advice for obesity?
5–10% weight loss, healthy diet, 150 mins/week of moderate exercise, dietitian referral.
91
Routine preconception tests?
FBC, iron studies, blood group, Rubella/Varicella, HIV, Hep B/C, syphilis, TSH, cervical & STI screening.
92
What is SMA carrier status significance?
Autosomal recessive; both carriers = 25% chance affected child.
93
Counselling points for SMA carrier couple?
Explain inheritance, refer to genetic counsellor, discuss reproductive options.
94
Iron studies: Hb 99, Ferritin 10. Diagnosis?
Iron deficiency anaemia (likely from periods + vegetarian diet).
95
Rubella & Varicella IgG negative. Management?
Live vaccines required, delay conception for 28 days after.
96
SMA carrier (both partners) – options?
IVF + PGT (not acceptable to couple)
Natural + prenatal Dx (CVS/amnio)
Donor gametes or adoption
Support planning if choosing to conceive naturally
97
When to refer >35yo woman for fertility assessment?
After 6 months of trying without conception.
98
Next investigations in subfertility workup?
Day 21 progesterone, semen analysis, tubal patency testing.
99
Key learning points from this case?
Value of personalized preconception care
Basics of genetic counselling
Risk awareness: age, obesity, chronic illness
Interdisciplinary support
100
Suggested areas for further study?
Prenatal screening program efficacy
SMA management advances
Managing psychiatric meds in pregnancy
101
What are the key components of First Trimester Combined Screening (FTCS)?
Nuchal translucency ultrasound (11-13+6 weeks), Maternal serum markers (Free Beta-hCG and PAPP-A), Maternal age
102
What conditions does FTCS primarily screen for?
Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome)
103
What is the next step if FTCS is screen-positive?
Offer further testing, such as: Non-Invasive Prenatal Testing (NIPT), Diagnostic testing (Chorionic Villus Sampling or Amniocentesis)
104
What are the two key maternal serum markers measured in first trimester combined screening, and how do they change in Down syndrome?
Free Beta-hCG – Typically increased in Down syndrome.
PAPP-A (Pregnancy-Associated Plasma Protein A) – Typically decreased in Down syndrome.
105
What is the genetic cause of Fragile X Syndrome?
Fragile X Syndrome is caused by a CGG trinucleotide repeat expansion (>200 repeats) in the FMR1 gene on the X chromosome, leading to silencing of the gene and deficiency of FMRP protein.
106
What are the common clinical features of Fragile X Syndrome?
Intellectual disability (more severe in males)
Speech and language delay
Autism spectrum behaviors
Anxiety, social avoidance
Long face, large ears, macroorchidism (post-pubertal males)
107
How is Fragile X Syndrome diagnosed?
By genetic testing of the FMR1 gene to detect CGG repeat expansion using PCR and Southern blot techniques.
108
What is the significance of CMV infection in pregnancy?
CMV is the most common congenital infection, which can cause sensorineural hearing loss, developmental delay, microcephaly, and intracranial calcifications in the fetus.
109
How is CMV transmitted to the fetus?
Primary maternal infection (highest risk to fetus)
Reactivation or reinfection with a different strain
Transplacental transmission, breast milk, or at delivery
110
How is CMV infection diagnosed during pregnancy?
Maternal serology (CMV IgM and IgG avidity testing)
Amniocentesis for CMV PCR (after 21 weeks if fetal infection suspected)
Ultrasound findings (e.g., ventriculomegaly, calcifications, growth restriction)
111
How is CMV transmitted?
Person-to-person via body fluids (saliva, urine, blood, semen, breast milk)
Transplacental (congenital infection)
During childbirth (contact with infected secretions)
Through organ transplantation or blood transfusion
