Preconception and Genetic Counseling Overview
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Questions and Answers

What is the primary molecular cause of fragile X syndrome?

  • Insertion of a nucleotide in the FMR1 gene
  • CGG repeat expansion in the FMR1 gene (correct)
  • Point mutation in the FMR1 gene
  • Deletion of the FMR1 gene

What is the normal range for CGG repeat expansions in the FMR1 gene?

  • 200-300
  • 1-3
  • 45-199
  • 4-44 (correct)

In terms of inheritance patterns, how many X chromosomes do males have, and how does this affect their risk for X-linked disorders?

  • Two X chromosomes, higher risk for X-linked disorders
  • No X chromosomes, lower risk for X-linked disorders
  • One X chromosome, increased risk for manifesting X-linked disorders (correct)
  • One X chromosome, no risk for X-linked disorders

What is the estimated chance of having a child affected by an autosomal recessive disorder for first cousins?

<p>1/4 (C)</p> Signup and view all the answers

Which screening method is recommended for consanguineous couples in the United States?

<p>Whole Exome Sequencing (WES) (C)</p> Signup and view all the answers

Which of the following is NOT a component of preconception care regarding genetic counseling?

<p>Genetic testing only for the mother (C)</p> Signup and view all the answers

What is the estimated prevalence of fragile X syndrome in males?

<p>1 in 2500-4000 (D)</p> Signup and view all the answers

What are some characteristic physical features associated with fragile X syndrome?

<p>High forehead and large ears (D)</p> Signup and view all the answers

Which inheritance pattern is characterized by males being more frequently affected and the presence of affected males in each generation?

<p>X-linked Recessive (C)</p> Signup and view all the answers

In X-linked Dominant inheritance, which statement is true regarding male offspring?

<p>Males can only pass the mutant allele to daughters. (A)</p> Signup and view all the answers

What is a common feature of mitochondrial inheritance?

<p>It can be passed on by both males and females. (C)</p> Signup and view all the answers

Which of the following statements is true regarding cystic fibrosis (CF)?

<p>CF is an autosomal recessive disease requiring both parents to be carriers. (B)</p> Signup and view all the answers

How does the inheritance of Y-linked traits occur?

<p>From fathers to sons. (B)</p> Signup and view all the answers

Which of the following mutations leads to high salt content in sweat and viscous mucus secretions in cystic fibrosis?

<p>Mutations in the CFTR gene. (A)</p> Signup and view all the answers

In sex-linked inheritance, how are males and females affected differently?

<p>Females can be carriers without expressing the trait for X-linked recessive disorders. (A)</p> Signup and view all the answers

What clinical features are commonly associated with cystic fibrosis?

<p>Thick secretions and lung infections. (A)</p> Signup and view all the answers

Which substance is considered to have no safe amount for consumption during pregnancy?

<p>Alcohol (B)</p> Signup and view all the answers

What is a potential effect of smoking during pregnancy?

<p>Higher chances of low-birth-weight babies (B)</p> Signup and view all the answers

Which of the following substances is linked to an increase in miscarriages if consumed excessively?

<p>Caffeine (A)</p> Signup and view all the answers

What chronic condition is most likely to affect pregnancy by potentially causing behavioral and learning problems in children?

<p>Recreational drug use (A)</p> Signup and view all the answers

What chemical exposure is considered most risky during the first trimester of pregnancy?

<p>Pesticides (B)</p> Signup and view all the answers

Which of the following is NOT advised concerning herbal remedies during pregnancy?

<p>They are closely regulated by the FDA. (A)</p> Signup and view all the answers

What is the recommended daily intake of Iodine during pregnancy?

<p>150 µg/day (B)</p> Signup and view all the answers

Which of the following strategies is NOT recommended for managing teratogenic medication prior to pregnancy?

<p>Discontinue all medications abruptly (B)</p> Signup and view all the answers

What is required for a recessive trait to be expressed?

<p>Two recessive alleles are needed. (C)</p> Signup and view all the answers

Which statement about autosomal dominant inheritance is true?

<p>Each affected individual typically has an affected parent. (D)</p> Signup and view all the answers

In the context of genetic mutations, what distinguishes somatic chromosome mutations from sex chromosome mutations?

<p>Somatic mutations relate to autosomal inheritance. (B)</p> Signup and view all the answers

Which of the following correctly identifies the genotype of a homozygous recessive individual?

<p>rr (D)</p> Signup and view all the answers

What characteristic is associated with autosomal recessive diseases?

<p>Carriers of the trait do not exhibit the disease. (B)</p> Signup and view all the answers

Which condition is an example of an autosomal dominant disorder?

<p>Huntington's disease (A)</p> Signup and view all the answers

What is the recommended timeframe to initiate prenatal folate supplementation before conception?

<p>At least 1 month before conception (B)</p> Signup and view all the answers

How is allele inheritance described when two different alleles are present?

<p>Heterozygous (D)</p> Signup and view all the answers

Which of the following factors would NOT typically lead to a referral to a clinical geneticist?

<p>Being under the age of 35 while pregnant (C)</p> Signup and view all the answers

Which of the following accurately represents a characteristic of recessive inheritance?

<p>Individuals with the disease must be homozygous recessive. (A)</p> Signup and view all the answers

Which type of genetic disease results from a single defective gene?

<p>Mendelian diseases (C)</p> Signup and view all the answers

What is the primary aim of genetic counselling?

<p>To inform individuals about genetic conditions and aid in decision-making (D)</p> Signup and view all the answers

Which type of genetic disease can only be transmitted from the mother?

<p>Mitochondrial diseases (A)</p> Signup and view all the answers

During what process is a family tree or pedigree primarily used?

<p>To analyze inheritance patterns of traits within a family (C)</p> Signup and view all the answers

What is NOT considered a reason for referring someone to a geneticist?

<p>Concerns about dietary restrictions during pregnancy (B)</p> Signup and view all the answers

Which micronutrient is typically emphasized for supplementation during pregnancy along with folate?

<p>Calcium (D)</p> Signup and view all the answers

What is the primary purpose of Preimplantation Genetic Testing (PGT)?

<p>To prevent the transmission of known genetic conditions to offspring (A)</p> Signup and view all the answers

Which of the following factors diminishes the chance of pregnancy during PGT?

<p>Smoking habits (B)</p> Signup and view all the answers

What is the estimated overall chance of pregnancy after three PGT treatments?

<p>50% (D)</p> Signup and view all the answers

What ethical concern is raised by the use of PGT?

<p>The implications of designing a child without abnormalities (D)</p> Signup and view all the answers

Which statement accurately describes anencephaly?

<p>A congenital condition due to improper neural tube closure (A)</p> Signup and view all the answers

Which nutrient deficiency is critical in the prevention of neural tube defects like anencephaly?

<p>Folate (Vitamin B9) (C)</p> Signup and view all the answers

What is the role of the ‘Conselho Nacional de Procriação Medicamente Assistida’?

<p>To determine severe genetic diseases eligible for PGT (A)</p> Signup and view all the answers

Which environmental factor can disrupt neural tube formation during pregnancy?

<p>Teratogen exposure (D)</p> Signup and view all the answers

Flashcards

Neural tube defect risk

Increased risk of a baby having a neural tube defect is linked to iodine deficiency (5mg/day)

Iodine intake during pregnancy

150 µg/day of iodine is recommended during pregnancy.

Iron intake during pregnancy

30-60 mg/day of iron is recommended during pregnancy.

Smoking and pregnancy

Smoking significantly increases risks of low birth weight, preterm delivery and infant mortality.

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Alcohol consumption during pregnancy

No safe amount of alcohol is allowed during pregnancy.

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Recreational drug use during pregnancy

Increases miscarriage, low birth weight, premature birth, and developmental problems of the baby.

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Teratogenic medications

Prescription drugs that can cause birth defects.

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Hazardous chemicals during pregnancy

Certain chemicals can be harmful to the fetus

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Prenatal folate supplementation

Taking folic acid before conception and during early pregnancy to prevent neural tube defects in the developing baby.

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Genetic counselling

Provides information, advice, and support to individuals/families about genetic conditions and risks.

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Clinical geneticist

A medical specialist who diagnoses and manages genetic conditions.

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Family history (genetics)

Record of genetic conditions in a family.

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Mendelian diseases

Genetic disorders passed on through a single defective gene.

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Family pedigree

Diagram showing family relationships and genetic traits.

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Genetic disorder

Variations in genome causing health problems that can be inherited.

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Prenatal Diagnostic Testing

Tests done during pregnancy to screen for possible genetic or chromosome abnormalities in the developing fetus

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Autosomal Dominant Inheritance

A pattern of inheritance where a single copy of a mutated gene is sufficient to cause a disease.

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Autosomal Recessive Inheritance

A pattern of inheritance where two copies of a mutated gene are necessary to cause a disease.

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Homozygous Dominant

Having identical dominant alleles (e.g., AA).

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Homozygous Recessive

Having identical recessive alleles (e.g., aa).

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Heterozygous

Having two different alleles (e.g., Aa).

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Allele

Different versions of a gene.

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Dominant Allele

An allele that is expressed even if only one copy is present.

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Recessive Allele

An allele that is only expressed if two copies are present.

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Sex-linked inheritance

Genes located on sex chromosomes (X or Y) are passed on in a pattern that differs from autosomal inheritance.

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Hemizygous

Having only one allele for a particular gene, typically found in males for genes on the X chromosome.

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X-linked dominant inheritance

A dominant trait passed down through the X chromosome, affecting females more frequently.

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Fragile X syndrome

A genetic condition caused by a mutation in the FMR1 gene on the X chromosome, leading to various developmental challenges.

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X-linked recessive inheritance

A recessive trait passed through the X chromosome, affecting males more frequently.

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Hemophilia

A genetic disorder where the blood doesn't clot properly due to a deficiency in certain clotting factors, primarily affecting males.

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Y-linked inheritance

Genes located on the Y chromosome are passed directly from father to son.

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Mitochondrial inheritance

Genes within mitochondria are passed from mother to all children, regardless of sex.

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Preimplantation Genetic Test (PGT)

A procedure where embryos are tested for genetic abnormalities before being implanted in the uterus. This helps couples at high risk of passing on a genetic condition to their offspring.

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CF carrier risk

If both parents are carriers for cystic fibrosis (CF), there's a 25% chance their child will inherit the disease.

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Fragile X Syndrome: Cause

Fragile X Syndrome is caused by a mutation in the FMR1 gene, specifically an expansion of CGG repeats in the 5'UTR region.

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PGT Uses

PGT is used for couples at high risk of transmitting a known genetic condition or chromosomal abnormality to their offspring. It involves IVF followed by embryo selection.

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Fragile X Syndrome: Inheritance

Fragile X Syndrome is an X-linked recessive disorder, meaning females can be carriers while males are more likely to be affected.

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PGT Success Rates

The chance of pregnancy per PGT treatment is about 20%. A maximum of 3 treatments are allowed, resulting in an overall chance of about 50%.

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Fragile X Syndrome: Prevalence

Fragile X Syndrome is the most common cause of inherited intellectual disability, affecting approximately 1 in 2500-4000 males and 1 in 7000-8000 females.

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Anencephaly

A severe birth defect where the skull and brain don't fully develop due to a failure of the neural tube to close during early pregnancy.

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Consanguinity Risk

Consanguineous relationships, like first cousins, increase the risk of autosomal recessive disorders because they share a higher proportion of identical genes.

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Neural Tube Formation

The neural tube, which develops into the brain and spinal cord, forms by folding and fusing of a flat layer of cells called the neural plate. In anencephaly, the head end fails to close.

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Preconception Carrier Screening

This screening uses Next Generation Sequencing (NGS) to analyze a large number of genes in both partners before conception.

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Anencephaly Causes

Anencephaly can be caused by genetic mutations, nutritional deficiencies like folate deficiency, or exposure to teratogens during pregnancy.

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Preconception Genetic Counseling

Genetic counseling helps couples understand potential risks and make informed decisions about family planning, including prenatal testing.

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Folate and Neural Tube Closure

Folate, a B vitamin, is crucial for DNA synthesis and cell division during neural tube development. Insufficient folate can lead to neural tube defects like anencephaly.

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Teratogens and Anencephaly

Substances that can cause birth defects are called teratogens. Exposure to alcohol, certain medications, or uncontrolled diabetes during pregnancy can also affect neural tube closure.

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Reproductive Choices for Consanguineous Couples

Couples can choose between spontaneous pregnancy with or without prenatal testing, or pursue other assisted reproductive options to minimize genetic risks.

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Study Notes

Preconception and Genetic Counseling

  • Anatomy of the female reproductive system is covered (no diagrams).
  • Preconception advice includes do's and don'ts, and lifestyle and risk factors.
  • Medication changes during preconception are discussed – drugs' impact on pregnancy.
  • Genetic testing and facilities for preconception period. Preconception reasons for genetic testing:
  • personal history
  • family history
  • a child with inherited condition
  • multiple pregnancy losses
  • woman ≥35 years old
  • blood relationship of partners

Preconception

  • Definition: Total education and care around conception for mother and child's health.
  • Who and where: Primary care (GPs, health centers) and secondary/tertiary care (gynecologists, obstetricians, clinical geneticists, etc.).
  • Aim: Identify and modify modifiable risks for reproductive health
  • Clinical history: Includes medical conditions of woman/couple, family history (family tree, consanguinity, genetic diseases) and medication safety.
  • Chronic diseases assessment: Heart disease, diabetes, rheumatoid arthritis, thyroid disease, hypertension, epilepsy, tuberculosis, asthma, and mental diseases are examined.
  • General data evaluation: Includes weight, height, BMI, blood pressure, pulse rate, and analysis.
  • Vaccinations: Assessment of status and necessary updates (e.g., hepatitis B, cytomegalovirus, rubella, COVID-19).
  • Supplements: Folic acid (400 µg/day), iron (30-60 mg/day), and iodine (150 µg/day).

Chronic Medical Conditions Affecting Pregnancy

  • Obesity, Hypertension, Diabetes Mellitus, Thyroid Disorders, STIs, Tuberculosis, Epilepsy: Preconception screening and management considerations are discussed.
  • Smoking, Alcohol and Recreational Drug Use: impact of these substances on pregnancy.
  • Prescription Drugs and Hazardous Chemicals: Potential teratogenic effects are mentioned.
  • Stress: Potential impact on fertility
  • Herbs and herbal remedies: Insufficient research on effects in pregnancy

Genetic Counseling

  • Definition: A process providing information about genetic risks, management, and family planning for preventing genetic conditions in the next generation.
  • Reasons for referral to a clinical geneticist: Personal or family history of genetic disorders, a child with a genetic disorder, multiple pregnancy losses, a woman ≥ age 35, consanguinity (blood relation between parents), or fetal anomaly during prenatal screening.
  • Process: Includes interpretation of family/medical histories, education, genetic counseling, support, and consideration of family goals, ethical, and religious values.
  • Pedigree: Representation of family members and relationships showcasing inheritance patterns, showing past and possible future genetic conditions in the family

Patterns of Inheritance

  • Alleles: Different versions of the same gene. Dominant (needs one copy) and Recessive (needs two copies).
  • Homozygous dominant (AA), Homozygous recessive (aa), and Heterozygous (Aa)
  • X-linked: inheritance pattern related to the X chromosome, Dominant/Recessive
  • Autosomal Dominant/Recessive: inheritance patterns for genetic conditions present on other chromosomes.
  • Mitochondrial diseases: Mother only transmits.

Case Studies (Cystic Fibrosis, Intellectual Disability, Consanguinity)

  • Cystic Fibrosis: Autosomal recessive disease, involves 1000+ identified CFTR gene mutations.
  • Intellectual Disability (Fragile X): X-linked recessive disease, characterized by a CGG repeat expansion that causes a genetic condition.
  • Consanguinity: increased risk of autosomal recessive disorders for couples who share genetic similarity

Preimplantation Genetic Testing (PGT)

  • Purpose: Selecting embryos without specific genetic conditions for transferring during IVF

Anencephaly

  • cause: Neural tube defect occurring during embryonic stage (third and fourth week), due to improper closure of neural tube.
  • Factors: Genetic (e.g., mutations in neural tube development genes), nutritional deficiency (folate), environmental factors (alcohol, medications, maternal diabetes).

Risk Factors

  • Folate deficiency, Family history of neural tube defects, Maternal obesity/diabetes: risk factors for neural tube defects (NTDs) like anencephaly.
  • Preventive Measure: Adequate folic acid supplementation is recommended (400-800 µg daily).

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Preconception & Genetic Counselling PDF

Description

This quiz explores the essential aspects of preconception and genetic counseling, including the anatomy of the female reproductive system, the importance of lifestyle choices, and the implications of medication changes. Additionally, it highlights the reasons for genetic testing and the role of healthcare providers during this critical period. Test your knowledge on how to promote a healthy conception journey.

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