chapter_5_lecture

Congenital Defects

Structural or functional anomalies that occur during intrauterine life, also known as birth defects.

Prenatal

The period before birth; the development of the fetus within the uterus.

Genetic Disorders

Disorders caused by changes in the genetic material of an organism, resulting in altered or missing proteins.

Chromosomal Disorders

Disorders caused by changes in the number or structure of chromosomes, often inheritable.

Single Gene Disorders

Genetic disorders resulting from variations or mutations in a specific gene's DNA sequence.

Autosomal Dominant Disorder

A genetic disorder that occurs when only one copy of a mutated gene, inherited from one parent, can cause the disorder.

Marfan Syndrome

An autosomal dominant disorder affecting connective tissue, leading to symptoms like tall stature and heart problems.

Neurofibromatosis

A group of genetic disorders causing tumors to form on the nervous system, inherited as autosomal dominant.

Autosomal Recessive Disorder

A genetic disorder that occurs when two copies of a mutated gene, one from each parent, are present.

Phenylketonuria (PKU)

A rare autosomal recessive disorder caused by the absence of an enzyme needed to break down phenylalanine.

Tay-Sachs Disease

An autosomal recessive disorder caused by the absence of an enzyme that breaks down fatty substances, affecting nerve cells.

X-linked Recessive Disorder

A genetic disorder due to mutations on the X chromosome, affecting mostly males.

Fragile X Syndrome

An inherited disorder caused by changes in a gene on the X chromosome, leading to developmental problems.

Multifactorial Disorders

Disorders that result from multiple genetic and environmental factors, affecting traits or health problems.

Cleft Lip and Cleft Palate

Common birth defects characterized by a gap in the upper lip or roof of the mouth, often requiring surgical repair.

Environmental Influences on Development

Factors such as teratogens that can affect fetal development and lead to birth defects.

TORCH Infections

A group of infectious diseases that can be transmitted from the mother to the fetus, increasing risks of birth defects.

Fetal Alcohol Syndrome

A condition resulting from prenatal exposure to alcohol, leading to cognitive and physical development issues.

Amniocentesis

A prenatal diagnostic procedure in which amniotic fluid is analyzed for genetic abnormalities.

Klinefelter Syndrome

A genetic disorder in males caused by an extra X chromosome, leading to symptoms like infertility and abnormal body proportions.

Turner Syndrome

A genetic disorder in females caused by the absence of all or part of one X chromosome, often resulting in short stature and infertility.

Mitochondrial Gene Disorders

Disorders caused by mutations in mitochondrial DNA, which can affect neuromuscular function.

Genetic Assessment

A comprehensive evaluation to determine genetic risk and prognosis involving family history and laboratory tests.

Cytogenetic Analysis

A method of analyzing chromosomes to detect genetic disorders in a fetus.

Teratogens

Substances or factors that can cause congenital defects or developmental abnormalities in a fetus.

Invasive Prenatal Testing

Procedures, such as chorionic villus sampling, that involve taking samples from the fetus to diagnose genetic disorders.

Non-Invasive Prenatal Testing (NIPT)

A blood test that assesses the risk of certain genetic disorders in a fetus without the need for invasive procedures.

Neural Tube Defects

Congenital defects affecting the spine, brain, or spinal cord due to incomplete closure of the neural tube during development.

Congenital Heart Defects

Structural problems with the heart present at birth, which can affect blood flow and heart function.

Genetic Counseling

A service that provides information and support to individuals or families regarding genetic disorders and risks.

Prenatal Vitamins

Supplements taken before and during pregnancy to ensure proper nutrient intake for fetal development.

Early Pregnancy Ultrasound

A non-invasive imaging test used to monitor fetal development and detect potential issues in the early stages of pregnancy.

Postnatal Development

The growth and development that occurs after birth, including physical, cognitive, and emotional changes.

Gene Therapy

A technique that modifies or introduces genetic material into a person's cells to treat or prevent disease.

Congenital Defects

Structural or functional anomalies that occur during intrauterine life, also known as birth defects.

Prenatal

The period before birth; the development of the fetus within the uterus.

Genetic Disorders

Disorders caused by changes in the genetic material of an organism, resulting in altered or missing proteins.

Chromosomal Disorders

Disorders caused by changes in the number or structure of chromosomes, often inheritable.

Single Gene Disorders

Genetic disorders resulting from variations or mutations in a specific gene's DNA sequence.

Autosomal Dominant Disorder

A genetic disorder that occurs when only one copy of a mutated gene, inherited from one parent, can cause the disorder.

Marfan Syndrome

An autosomal dominant disorder affecting connective tissue, leading to symptoms like tall stature and heart problems.

Neurofibromatosis

A group of genetic disorders causing tumors to form on the nervous system, inherited as autosomal dominant.

Autosomal Recessive Disorder

A genetic disorder that occurs when two copies of a mutated gene, one from each parent, are present.

Phenylketonuria (PKU)

A rare autosomal recessive disorder caused by the absence of an enzyme needed to break down phenylalanine.

Tay-Sachs Disease

An autosomal recessive disorder caused by the absence of an enzyme that breaks down fatty substances, affecting nerve cells.

X-linked Recessive Disorder

A genetic disorder due to mutations on the X chromosome, affecting mostly males.

Fragile X Syndrome

An inherited disorder caused by changes in a gene on the X chromosome, leading to developmental problems.

Multifactorial Disorders

Disorders that result from multiple genetic and environmental factors, affecting traits or health problems.

Cleft Lip and Cleft Palate

Common birth defects characterized by a gap in the upper lip or roof of the mouth, often requiring surgical repair.

Environmental Influences on Development

Factors such as teratogens that can affect fetal development and lead to birth defects.

TORCH Infections

A group of infectious diseases that can be transmitted from the mother to the fetus, increasing risks of birth defects.

Fetal Alcohol Syndrome

A condition resulting from prenatal exposure to alcohol, leading to cognitive and physical development issues.

Amniocentesis

A prenatal diagnostic procedure in which amniotic fluid is analyzed for genetic abnormalities.

Klinefelter Syndrome

A genetic disorder in males caused by an extra X chromosome, leading to symptoms like infertility and abnormal body proportions.

Turner Syndrome

A genetic disorder in females caused by the absence of all or part of one X chromosome, often resulting in short stature and infertility.

Mitochondrial Gene Disorders

Disorders caused by mutations in mitochondrial DNA, which can affect neuromuscular function.

Genetic Assessment

A comprehensive evaluation to determine genetic risk and prognosis involving family history and laboratory tests.

Cytogenetic Analysis

A method of analyzing chromosomes to detect genetic disorders in a fetus.

Teratogens

Substances or factors that can cause congenital defects or developmental abnormalities in a fetus.

Invasive Prenatal Testing

Procedures, such as chorionic villus sampling, that involve taking samples from the fetus to diagnose genetic disorders.

Non-Invasive Prenatal Testing (NIPT)

A blood test that assesses the risk of certain genetic disorders in a fetus without the need for invasive procedures.

Neural Tube Defects

Congenital defects affecting the spine, brain, or spinal cord due to incomplete closure of the neural tube during development.

Congenital Heart Defects

Structural problems with the heart present at birth, which can affect blood flow and heart function.

Genetic Counseling

A service that provides information and support to individuals or families regarding genetic disorders and risks.

Prenatal Vitamins

Supplements taken before and during pregnancy to ensure proper nutrient intake for fetal development.

Early Pregnancy Ultrasound

A non-invasive imaging test used to monitor fetal development and detect potential issues in the early stages of pregnancy.

Postnatal Development

The growth and development that occurs after birth, including physical, cognitive, and emotional changes.

Gene Therapy

A technique that modifies or introduces genetic material into a person's cells to treat or prevent disease.

Dysmorphology

The study of congenital structural anomalies, especially those that affect the shape and structure of the body.

Maternal Age and Genetic Risk

The increased risk of genetic disorders associated with advanced maternal age, particularly in chromosomal abnormalities.

Screening Tests

Tests used to assess the risk of certain disorders in a fetus, typically done during early pregnancy.

Informed Consent in Genetic Testing

The process ensuring patients understand the implications and risks associated with genetic testing before undergoing such testing.

Postnatal Screening

Newborn screening tests that check for certain congenital disorders shortly after birth to facilitate early intervention.

Congenital Infections

Infections transmitted from mother to fetus during pregnancy that can cause developmental issues.

Postpartum Depression

A type of mood disorder that can affect new mothers, typically occurring after childbirth.

Infertility Disorders

Medical conditions that inhibit the ability to conceive, which may be genetic or due to environmental factors.

Ethical Considerations in Genetic Testing

The moral implications and responsibilities associated with genetic testing and counseling, including privacy and discrimination.