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MBBS IV - Junior Clerkship WCS > JC109 (O&G) - Pre-marital, Pre-pregnancy & Prenatal Counselling > Flashcards

JC109 (O&G) - Pre-marital, Pre-pregnancy & Prenatal Counselling Flashcards

1
Q

Outline the reproductive risks to mother and fetus

A

Maternal:

  • Pre-existing medical conditions (effect on fertility/ pregnancy)
  • Pregnancy related complications
  • Operatie risk
  • Psychosocial problems (maternal mental health, economic status, wellbeing of future child)

Fetus:

  • Growth problems - e.g. growth restriction vs macrosomia
  • Congenital anomalies: chromosomal, genetic, structural, functional
  • Infection - vertical transmitted pathogens
  • Birth trauma
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2
Q

Compare globin gene expression before and after birth

A

Switch from gamma to beta globin occurs shortly after birth:

 Beta thalassemia major only presents after birth

 Alpha thalassemia major occurs in fetal life already

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3
Q

Define the 4 severities of alpha thalassaemia and genotype

A

α- deletion or αα: nondeletional - ‘Silent carrier’

α- /α- trans deletion or –/αα: cis deletion - α-thalassemia minor / trait

α-/– 3 deletions or 2 deletions + 1 non-deletional mutation - Hemoglobin H (HbH) disease

–/– (all deleted) - Hemoglobin Bart’s hydrops fetalis (γ4) or α thalassemia major

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4
Q

Differentiate the concept of a healthy child vs a normal child

A

Healthy:

  • a state of physical, mental, intellectual, social and emotional well-being
  • Not just absence of disease or infirmity

Normal:

  • Normal genetic complement (chromosomes and genes)
  • Potential for normal growth and development
  • Abnormal: chromosomal, genetic or structural abnormalities
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5
Q

Goals of Premarital and pre-pregnancy counselling

A

Goals:
- Safe and healthy pregnancy, from conception to birth

  • Increase chance of having a “healthy” child
  • Lower chance of having adverse pregnancy outcome
  • Understand available prenatal screening and diagnostic tests
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6
Q

Timing of pre-pregnancy counselling

Objectives for counselling sessions

A

Timing:

  • Reproductive-aged patient currently using contraception/ planning pregnancy
  • Several times during a woman’s reproductive lifespan

Objectives:

  • Detect, assess and manage specific health problems in woman or her partner before pregnancy
  • Give general advice about optimizing personal healthcare and lifestyle
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7
Q

Maternal and fetal causes of intrauterine growth restriction and macrosomia

A

IUGR:
Maternal - mostly hypertension (restrict blood flow to fetus)
Fetal - syndromal conditions, infection during pregnancy

Macrosomia
Maternal - poor control of gestational diabetes
Fetal - syndromal conditions

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8
Q

Outline history taking questions for pre-pregnancy counselling.

A

General:

  • Age of woman
  • Ethnicity - diseases with higher prevalence in ethnic groups (e.g. Cystic fibrosis in caucasians)
  • Consanguinity: risk of autosomal recessive and multifactorial disorders

Family history:
- congenital/ genetic/ chromosomal disorders

Medical history and Surgical history:

  • Effects between pregnancy and medical conditions
  • Vaccinations

Obstetric history:
- Birth abnormalities, still birth, neonatal death…etc

Medication/ drug history, drug allergies:
- Assess appropriateness and teratogenic potential

Occupational history: social background, exposure to teratogens

Social:

  • Smoking, drinking, substance abuse
  • Lifestyle, STI, intimate partner violence
  • Nutrition habits

Travel and environmental risks (e.g. Zika)

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9
Q

Outline plans for optimizing a woman’s health before pregnancy

A

Family history of genetic anomalies: refer to pre-pregnancy genetic counselling

Medical conditions: stabilize pre-existing conditions; multidisciplinary pre-pregnancy planning

Medication: adjust medication to control disease and minimize teratogenic risk

Social: stop unsafe lifestyle habits; optimize nutrition, diet and weight; Periconceptual folic acid supplementation

Vaccination: Seasonal influenza vaccine; HepB, rubella and varicella vaccine for immunocompromised mother

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10
Q

Past obstetric conditions that require pre-pregnancy counselling and intervention

A 
 Congenital anomalies
 Stillbirth, neonatal death
 Recurrent pregnancy loss (explore underlying cause)
 Grand multiparity
 Difficult delivery, birth trauma
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11
Q

Outline P/E for pre-pregnancy counselling and assessment

A

 Blood pressure, body mass index (underweight/ obese)
 General examination

 Cardiovascular system (auscultation of heart sound)
 Respiratory system
 Abdominal examination

 Cervical screening (pap smear: opportunistic screening) + pelvic examination
 Breast examination
 +/- other tests as indicated

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12
Q

6 dates for antenatal screening

List the tests performed in each booking

A

First booking: alpha- thalassemia screening, blood grouping, infection screening

11 - 13 weeks - 1st trimester tests: Down syndrome ultrasound screening

16 - 19 weeks - 2nd trimester tests: Down syndrome biochemical screening

18 - 22 weeks - Fetal morphology tests

28-30 weeks - Gestation diabetes tests (OGTT)

36 weeks - Group B Streptococcus screening

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13
Q

First booking for antenatal counselling

  • Tests performed
A

Complete blood picture (including women’s Hb, MCV) – antenatal thalassemia screening

Blood group, Rhesus factor, red cell antibody

Infection

  1. Hepatitis B
  2. Rubella antibody
  3. VDRL/FTA-ABS (syphilis)
  4. HIV antibody (opt out)
  5. toxoplasma, CMV, HSV
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14
Q

1st trimester antenatal counselling

List all tests performed

A

Combined Down syndrome screening:

  • Ultrasound examination of foetal nuchal translucency
  • Maternal serum markers (pregnancy-associated plasma protein A (PAPP-A)
  • B-hCG test

Low risk = foetal anomaly ultrasound examination
High risk = 2nd -tier screening by non-invasive prenatal testing (NIPT): test maternal plasma cell-free foetal DNA

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15
Q

18-22nd week antenatal counselling

List all tests performed

A

Fetal morphology scan – foetal anomaly ultrasound examination

  • Detect structural anomaly: head, cleft lip, heart, spine…etc
  • Amount of amniotic fluid (liquor volume)
  • Placenta position
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16
Q

2nd trimester biochemical Down Syndrome screening

List all tests performed

A

Combination of biochemical tests:

  • AFP
  • B-hCG
  • uE3
  • Inhibin A
  • PAPP-A
17
Q

Prenatal Down syndrome diagnosis

List tests performed to confirm Dx

A

Amniocentesis (14-16th week gestation)
FISH
Chorionic villi sampling (10-12th week gestation)

18
Q

Prenatal diagnosis of fetal diseases:

  • Objective of prenatal diagnosis
  • Counselling and tests done
A

Objective:

  • Offer timely treatment to prevent irreversible damage
  • Support for couple if treatment is unavailable

Counselling:

  • Help couples choose screening or diagnostic tests
  • Counsel risks of tests to mother and fetus

Tests:

  • Fetal sampling
  • Foetal anomaly ultrasound examination
19
Q

Fetal sampling for prenatal diagnosis

  • Sampling techniques
  • Assays and tests on samples
A

Techniques:

a) Chorionic villus sampling
b) Amniocentesis
c) Cordocentesis (fetal blood sampling)

Tests:

  • PCR rapid aneuploidy test for Down syndrome
  • Karyotyping for Aneuploidies, Gross structural chromosomal abnormalities
  • Chromosomal microarray (CMA) molecular karyotyping for microdeletions and microduplications
20
Q

Compare chorionic villus sampling and amniocentesis

  • Period of gestation for sampling
  • Samples
  • Pain
  • Miscarriage risk
  • Failure rate
A
21
Q

Compare chorionic villus sampling and amniocentesis

  • Test accuracy
  • turnaround time
  • Maternal risk
A
22
Q

Treatment options after prenatal diagnosis of fetal disease

A

Low risk disease - routine antenatal care and delivery, paediatrics follow-up

High risk disease:

a) Pregnancy termination, confirmation study by post-mortem exam, and genetic counselling
b) In-utero treatment (e.g. in utero transfusion for fetal anemia) with delivery or followup
c) Delivery and surgical treatment with follow-up

23
Q

Describe the purpose of genetic counselling

A

Genetic counselling;

  • 2-way process to explain medical conditions and enable the couple/ mother to decide
  • Help couples understand the impact of fetal condition on the family
  • Help couples choose the course of action for management of fetal abnormality that they will not regret e.g. termination of pregnancy

MBBS IV - Junior Clerkship WCS (131 decks)

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