Preconception care 

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Smoking and Substance Use Cessation

Smoking Cessation

• Consider nicotine replacement therapy (NRT) if counseling alone is unsuccessful.

Alcohol Cessation

• Abstinence from alcohol is recommended due to risks of:
  • Facial abnormalities (e.g., short palpebral fissures, hypertelorism, small eyes, thin upper lip)
  • Low birthweight (LBW)
  • Small stature
  • Low intelligence
  • Psychological hyperactivity
  • Cardiac lesions, including atrial and ventricular septal defects

Recreational Drug Cessation

• Cease all recreational drug use.

Caffeine Reduction

• Reduce caffeine intake as it may impact conception and increase the risks of miscarriage and low birthweight (LBW).

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Folic Acid Supplementation

Timing and Dosage

• Recommended from 1 month prior to conception through to 12 weeks of gestation.
• Dosage:
  • Low risk: 0.5 mg daily
  • High risk: 5 mg daily (indicated for the following):
    • Use of antiepileptic medications or folate antagonists (e.g., methotrexate, sulfonamides)
    • Diabetes mellitus (DM)
    • Family history or prior child with a neural tube defect (NTD)
    • BMI > 30
    • Malabsorption syndromes (e.g., Coeliac disease)
    • Family history of congenital heart disease
    • Multiple pregnancies

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Iodine Supplementation

• Recommended dose: 150 micrograms daily.

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Nutrition and Weight Assessment

• Comprehensive review of dietary intake and weight status.

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Immunization Review

• Ensure up-to-date vaccinations for:
  • Measles, Mumps, Rubella (MMR)
  • Diphtheria, Tetanus, Pertussis (DTP)
  • Varicella
  • Influenza

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Medication Review

Teratogenic Medications to Avoid/Review:

• ACE inhibitors (e.g., enalapril)
• Acne medications (e.g., isotretinoin)
• Alcohol-containing products
• Antibiotics (e.g., tetracycline, doxycycline)
• Warfarin
• Anticonvulsants (e.g., phenytoin, valproic acid, carbamazepine)
• Lithium
• Thyroid medications (e.g., propylthiouracil, carbimazole)
• Thalidomide

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Health and Chronic Condition Management

Conditions to Assess:

• Diabetes Mellitus (DM)
• Hypothyroidism
• Epilepsy
• Thrombophilia

Oral Health:

• Comprehensive dental review recommended.

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Psychosocial Health

• Assess psychological well-being, including screening for domestic violence.
• Review social circumstances and available support networks.

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Pregnancy History Review

• Detailed history of previous pregnancies, including outcomes such as infant death, fetal loss, birth defects, LBW, gestational diabetes, and preterm birth.

Interpregnancy Interval Considerations:

• Optimal outcomes are associated with interpregnancy intervals between 18 months and 5 years.

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Genetic and Family History Assessment

• Screen for congenital abnormalities, consanguinity, and genetic conditions such as thalassemia.
• MBS funds carrier screening for
  • cystic fibrosis
  • spinal muscular atrophy
  • fragile X syndrome

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Physical Assessments

• Conduct a breast exam and cervical screening test.
• Measure BMI, blood pressure (BP), and assess dentition.
• RANZCOG recommends that women planning pregnancy aim for a BMI within the normal range of 18.5 to 24.9
• A BMI over 30 is associated with increased risks of infertility and adverse pregnancy outcomes.

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Environment and Social Assessment

• Discuss environmental exposures at home and work, social circumstances, and available support.

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Travel Recommendations

• Advise against overseas air travel after 28 weeks of gestation.

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Models of Care

• Discuss available models of care during pregnancy.

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Dietary Considerations for Fish Consumption

• Limit fish containing high levels of mercury:
  • Shark/flake, marlin, broadbill/swordfish: No more than one serve (100g cooked) per fortnight, with no other fish consumed that fortnight.
  • Orange roughy (deep sea perch) or catfish: One serve (100g cooked) per week, with no other fish consumed that week.

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Avoiding TORCH Infections in Pregnancy

TORCH refers to a group of vertically transmitted infections that can lead to serious complications for the fetus, including preterm birth, delayed development, congenital malformations, or pregnancy loss. TORCH stands for:

• Toxoplasmosis
• Other (including syphilis, varicella, mumps, parvovirus, HIV, listeriosis)
• Rubella
• Cytomegalovirus (CMV)
• Herpes Simplex Virus (HSV)

Specific Infections and Preventive Measures

Toxoplasmosis

• Avoidance Strategies:
  • Cat litter: Avoid handling; if necessary, use gloves and wash hands thoroughly afterward.
  • Garden soil: Use gloves and wash hands after gardening.
  • Raw/undercooked meat and unpasteurized milk products: Ensure thorough cooking and avoid unpasteurized dairy.
  • Fruits and vegetables: Wash thoroughly before consumption.

Cytomegalovirus (CMV)

• Prevention:
  • Frequent handwashing, particularly after handling diapers or coming into contact with bodily fluids.
  • Use gloves when changing nappies, especially for individuals working in healthcare or childcare settings.

Parvovirus B19 (Erythema Infectiosum / “Slapped Cheek Syndrome”)

• Clinical Features:
  • Erythema infectiosum: “Slapped cheek” rash, rubella-like rash, arthralgia or arthritis (more common in adults).
  • 30-40% of infections are subclinical.
• Transmission:
  • Person-to-person contact through respiratory secretions or hand-to-mouth contact.
  • Vertical transmission from mother to fetus.
• Complications:
  • Risk of spontaneous miscarriage and stillbirth (13% before 20 weeks’ gestation; 0.5% after 20 weeks).
  • Associated with fetal hydrops, thrombocytopenia.

Listeriosis

• Pathogen: Listeria monocytogenes (a gram-positive rod capable of replicating at refrigerator temperatures).
• High-Risk Foods:
  • Refrigerated, ready-to-eat foods such as deli meats, soft cheeses, pre-packaged salads, and chilled/smoked seafood.
  • Unpasteurized milk and dairy products.
• Prevention:
  • Avoid foods unless thoroughly cooked or heated to at least 74°C for over two minutes.
  • Wash all fruits and vegetables thoroughly.
  • Avoid consuming food prepared more than 24 hours ago unless reheated to steaming hot.
  • Increased caution for Hispanic women, as they may have a higher incidence of infection.
• Complications:
  • Miscarriage, preterm labor, low-birth-weight infants, or infant death.
  • Long-term complications: intellectual disability, paralysis, seizures, blindness.

Rubella

• Complications:
  • Congenital rubella syndrome, including deafness, cataracts, and cardiac defects.

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Genetic Testing

Cystic Fibrosis (CF)

• Testing: CF mutation testing for carrier status in parents.
• Fetal Testing: Available during the first trimester.

Down Syndrome

• Testing Options: First trimester screening and Non-Invasive Prenatal Testing (NIPT).

Fragile X Syndrome (FXS)

• Testing: Karyotyping for diagnosis.
• Fetal Testing: Available at any gestational age.
• Parental Testing: Preconception carrier testing is recommended.

Haemoglobinopathies and Thalassemias

• Testing: Complete blood count with Mean Corpuscular Volume (MCV), Mean Corpuscular Hemoglobin (MCH), ferritin levels, and Hemoglobin electrophoresis.
• Carrier Testing: Recommended for both partners.

Genetic Carrier Screening: Considerations

Who Should Be Screened?

• Carrier screening is recommended for all individuals, as most carriers of recessive conditions have no family history.
• If there is a family history of a genetic condition, notify the testing laboratory to minimize false negatives.

Sequential and Couple Screening Approaches

• Sequential Screening: One partner is tested first; if found to be a carrier of an autosomal recessive condition, the second partner is tested.
  • Generally, women are tested first due to the implications of X-linked conditions like Fragile X Syndrome.
  • Advantages: Lower cost, as most couples only require one test.
• Couple Screening: Both partners are tested simultaneously, providing faster results, particularly beneficial during pregnancy.

Possible Results:

1. Increased Risk: When both partners carry the same autosomal recessive condition, or the woman carries an X-linked condition.
2. Low Risk: Neither partner is a carrier of the same autosomal recessive condition, and the woman is not a carrier of an X-linked condition.

Genetic Misconceptions

• “Screening is unnecessary without a known family history.”
  • Fact: Up to 90% of carriers for conditions like CF, Spinal Muscular Atrophy (SMA), and Fragile X Syndrome have no family history.
  • Carrier screening should be an informed choice, not a routine procedure, and couples should be supported regardless of their decision.

Genetic Counseling and Support

• Genetic counseling is recommended for individuals undergoing carrier screening or those identified as carriers.
• Counseling facilitates understanding of reproductive options, risks, and emotional support.

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Fragile X syndrome

Prevalence

• Fragile X syndrome is the second most common heritable cause of intellectual disability after Down syndrome.

Inheritance Pattern

• X-linked dominant inheritance with incomplete penetrance in females.

Genetic Cause

• Fragile X syndrome results from a CGG triplet repeat expansion in the FMR1 gene.
  • Normal Range: 5–40 CGG repeats.
  • Premutation: 55–200 CGG repeats.
  • Full Mutation: Greater than 200 CGG repeats.

Key Features

• Most individuals with the premutation remain intellectually normal, though they may exhibit mild physical traits such as prominent ears and may experience emotional issues such as anxiety or depression.
• Female carriers of the premutation may develop premature ovarian failure (before age 40) and are at risk of a tremor/ataxia syndrome later in life.

Clinical Manifestations in Fragile X Syndrome

Individuals with Full Mutation

• Males:
  • Approximately 80% have intellectual disability.
  • 20% are cognitively unaffected and are referred to as “transmitting males.”
  • Males typically experience more severe symptoms compared to females.
• Females:
  • Around 30% present with mild intellectual disability, although if inherited from a transmitting male, daughters may be unaffected but become obligate carriers.

Symptoms and Physical Signs

Pre-pubertal Features

• Normal growth pattern but with a disproportionately large head (above the 50th percentile).
• Delayed achievement of developmental milestones.
• Behavioral traits: tantrums, hyperactivity, and autism spectrum behaviors.
• Fragile X syndrome should be considered in any child with unexplained developmental delays.

Post-pubertal Features

• Cognitive impairment with IQ ranging from 20–70.
• Distinctive facial features, including:
  • Long face, prominent forehead, large ears, and a prominent jaw.
• Macroorchidism (enlarged testicles) in males after puberty.

Other Clinical Features

• Ophthalmologic: Strabismus (crossed eyes).
• Orthopedic: Flat feet (pes planus) and hyperextensible joints.
• Dermatologic: Soft, smooth skin.
• Cardiac: Mitral valve prolapse

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Cystic Fibrosis

Inheritance

• Cystic fibrosis (CF) follows an autosomal recessive inheritance pattern, meaning that both parents must carry one copy of the mutated gene. Carriers typically do not exhibit symptoms of the condition.

Genetic Cause

• CF is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene.
• These mutations disrupt the function of chloride channels, impairing the regulation of chloride and water flow across cell membranes.

Pathophysiology

• Dysfunctional chloride channels lead to the production of thick and sticky mucus in the passageways of various organs, such as the lungs and pancreas.
• This abnormal mucus accumulation clogs airways and ducts, resulting in characteristic symptoms and complications associated with cystic fibrosis.

Prevalence

• CF occurs in approximately 1 in 2,500 to 3,500 white newborns, making it relatively common in this population.
• It is less common among other ethnic groups, with a prevalence of around 1 in 17,000 among people of African descent and 1 in 31,000 in Asian populations.

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Spinal Muscular Atrophy (SMA)

Genetic Cause

• SMA is primarily caused by mutations in the SMN1 (Survival Motor Neuron 1) gene.

Inheritance Pattern

• SMA follows an autosomal recessive inheritance pattern.
  • When both parents carry a mutated SMN1 gene, there is a 25% chance with each pregnancy that the child will inherit the condition.

Clinical Manifestation

• SMA results in muscle weakness and progressive wasting (atrophy) of skeletal muscles, which often worsens over time.
• The severity and age of onset vary depending on the type of SMA.

Types and Variants

• While different types of SMA are caused by changes in the same genes, they differ in terms of age of onset and severity. There can be overlap in symptoms among the types.
• Other, less common forms of SMA and related motor neuron diseases are caused by mutations in different genes, such as:
  • Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
  • Spinal Muscular Atrophy with Lower Extremity Predominance
  • Spinal Muscular Atrophy with Respiratory Distress Type 1
  • X-Linked Infantile Spinal Muscular Atrophy