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    Teratology: Definition: Branch of Science That Studies The

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    Saba Rana
    Teratology is the study of abnormal development and birth defects. Some key points: - Certain stages of embryonic development are more vulnerable to disruption by teratogens, which are agents that can cause birth defects. - Major structural birth defects occur in 2-3% of live births, with additional minor anomalies identified in 2-3% more children by age 5. - Susceptibility to teratogens depends on the genotype and developmental stage at exposure. Manifestations depend on dose and duration. - Common teratogens include infectious agents, chemicals, physical agents like radiation, maternal disease states, and nutritional deficiencies. - Prevention strategies include folate supplementation, avoiding teratogens during

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    Teratology: Definition: Branch of Science That Studies The

    Uploaded by

    Saba Rana
    90 views27 pages
    Teratology is the study of abnormal development and birth defects. Some key points: - Certain stages of embryonic development are more vulnerable to disruption by teratogens, which are agents that can cause birth defects. - Major structural birth defects occur in 2-3% of live births, with additional minor anomalies identified in 2-3% more children by age 5. - Susceptibility to teratogens depends on the genotype and developmental stage at exposure. Manifestations depend on dose and duration. - Common teratogens include infectious agents, chemicals, physical agents like radiation, maternal disease states, and nutritional deficiencies. - Prevention strategies include folate supplementation, avoiding teratogens during

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    Teratology is the study of abnormal development and birth defects. Some key points: - Certain stages of embryonic development are more vulnerable to disruption by teratogens, which are agents that can cause birth defects. - Major structural birth defects occur in 2-3% of live births, with additional minor anomalies identified in 2-3% more children by age 5. - Susceptibility to teratogens depends on the genotype and developmental stage at exposure. Manifestations depend on dose and duration. - Common teratogens include infectious agents, chemicals, physical agents like radiation, maternal disease states, and nutritional deficiencies. - Prevention strategies include folate supplementation, avoiding teratogens during

    Copyright:

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    Download as pptx, pdf, or txt
    90 views27 pages

    Teratology: Definition: Branch of Science That Studies The

    Uploaded by

    Saba Rana
    Teratology is the study of abnormal development and birth defects. Some key points: - Certain stages of embryonic development are more vulnerable to disruption by teratogens, which are agents that can cause birth defects. - Major structural birth defects occur in 2-3% of live births, with additional minor anomalies identified in 2-3% more children by age 5. - Susceptibility to teratogens depends on the genotype and developmental stage at exposure. Manifestations depend on dose and duration. - Common teratogens include infectious agents, chemicals, physical agents like radiation, maternal disease states, and nutritional deficiencies. - Prevention strategies include folate supplementation, avoiding teratogens during

    Copyright:

    Attribution Non-Commercial (BY-NC)
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    Download as pptx, pdf, or txt
    of 27

    Teratology

    Definition: Branch of science that studies the


    causes, mechanisms and patterns of abnormal
    development or disruptions.
    •The agents responsible for these disruptions are
    called Teratogens
    •The fundamental concept in teratology is that
    certain stages of embryonic development are more
    vulnerable to disruption than others.
    Birth Defects

     Birth defect, congenital malformation, and congenital


    anomaly are synonymous terms used to describe
    structural, behavioral, functional, and metabolic
    disorders present at birth. Terms used to describe the
    study of these disorders are teratology and
    dysmorphology.
     Major structural anomalies occur in 2% to 3% of live
    born infants,
     An additional 2% to 3% are recognized in children by
    age 5 years, for a total of 4% to 6%.
     Minor anomalies
    Types of Abnormalities
     Malformations occur during formation of structures, for example, during
    organogenesis.
     Malformations are caused by environmental and/or genetic factors
     Most malformations have their origin during third to eighth weeks of
    gestation
     Disruptions result in morphological alterations of already formed
    structures and are due to destructive processes.
     Vascular accidents leading to bowel atresias
     defects produced by amniotic bands
     Deformations are due to mechanical forces that mold a part of the fetus
    over a prolonged period.
     Clubfeet,
     Syndrome
     Association
    Congenital anomalies may be caused by:
    Genetic factors
    Environmental factors
    Causes of human birth defects
    Principles of Teratology
     Factors determining the capacity of an agent to produce birth defects
    have been defined and set forth as the principles of teratology.
    i. Susceptibility to teratogenesis depends on the genotype of the
    conceptus and the manner in which this genetic composition interacts
    with the environment.
    ii. Susceptibility to teratogens varies with the developmental stage at
    the time of exposure.
    iii. Manifestations of abnormal development depend on dose and
    duration of exposure to a teratogen.
    iv. Teratogens act in specific ways (mechanisms) on developing cells
    and tissues to initiate abnormal embryogenesis (pathogenesis).
    v. Manifestations of abnormal development are death, malformation,
    growth retardation, and functional disorders.
    Critical periods in human prenatal development
    Female Reproductive system human development
    during Ist week after fertilization
    Developmental anomaly caused by Genetic mutation
    Female neonate with trisomy 13
    Rate of fetal growth during the last trimester
    Teratogens Associated with Human Malformations
    Teratogen Congenital Malformations

    Infectious agents

    Rubella virus Cataracts, glaucoma, heart defects, deafness, tooth


    abnormalities

    Cytomegalovirus Microcephaly, blindness, mental retardation, fetal death

    Herpes simplex Microphthalmia, microcephaly, retinal dysplasia


    virus
    Varicella virus Limb hypoplasia, mental retardation, muscle atrophy

    HIV Microcephaly, growth retardation

    Toxoplasmosis Hydrocephalus, cerebral calcifications, microphthalmia

    Syphilis Mental retardation, deafness


    Congenital cataract due to Rubella Virus
    Microphthalmia
    Teratogens Associated with Human Malformations
    Teratogen Congenital Malformations

    Physical agents

    X-rays Microcephaly, spina bifida, cleft palate, limb defects

    Hyperthermia Anencephaly, spina bifida, mental retardation, facial defects,


    cardiac abnormalities, omphalocele, limb defects
    Teratogens Associated with Human Malformations
    Teratogen Congenital Malformations
    Chemical agents
    Thalidomide Limb defects, heart malformations
    Aminopterin Anencephaly, hydrocephaly, cleft lip and palate
    Diphenylhydantoin Fetal hydantoin syndrome: facial defects, mental retardation
    (phenytoin)

    Valproic acid Neural tube defects, heart, craniofacial, and limb anomalies

    Trimethadione Cleft palate, heart defects, urogenital and skeletal abnormalities

    Lithium Heart malformations

    Amphetamines Cleft lip and palate, heart defects


    Figure 8.2 A,B. Examples of phocomelia. Limb defects characterized by loss of the
    long bones of the limb. These defects were commonly produced by the drug
    thalidomide.
    Teratogen Congenital Malformations

    Chemical agents
    Warfarin Chondrodysplasia, microcephaly
    ACE inhibitorsa Growth retardation, fetal death
    Cocaine Growth retardation, microcephaly, behavioral
    abnormalities, gastroschisis
    Alcohol Fetal alcohol syndrome, short palpebral fissures,
    maxillary hypoplasia, heart defects, mental retardation
    Isotretinoin (vitamin A) Vitamin A embryopathy: small, abnormally shaped ears,
    mandibular hypoplasia, cleft palate, heart defects
    Industrial solvents Low birth weight, craniofacial and neural tube defects
    Organic mercury Neurological symptoms similar to those of cerebral palsy

    Lead Growth retardation, neurological disorders


    Infant with fetal alcohol syndrome
    Teratogens Associated with Human Malformations

    Teratogen Congenital Malformations

    Hormones

    Androgenic agents (ethisterone, Masculinization of female genitalia: fused labia, clitoral


    norethisterone) hypertrophy

    Diethylstilbestrol (DES) Malformation of the uterus, uterine tubes, and upper


    vagina; vaginal cancer; malformed testes

    Maternal diabetes Variety of malformations; heart and neural tube defects


    most common

    Maternal obesity Heart defects, omphalocele


    Maternal Disease
     DIABETES. Disturbances in carbohydrate metabolism during
    pregnancy in diabetic mothers cause a high incidence of
    stillbirths, neonatal deaths, abnormally large infants, and
    congenital malformations.

     insulin therapy

     Mothers with phenylketonuria (PKU), resulting in increased


    serum concentrations of phenylalanine, are at risk for having
    infants with mental retardation, microcephaly, and cardiac
    defects.

     low-phenylalanine diet
     Nutritional Deficiencies
     Obesity
     Hypoxia
     Heavy Metals
    Male-mediated Teratogenesis
     Exposures to chemicals and other agents, such as
    ethylnitrosourea and radiation, can cause mutations in male
    germ cells.
     Epidemiological investigations have linked paternal
    occupational and environmental exposures to mercury, lead,
    solvents, alcohol, cigarette smoking, and other compounds to
    spontaneous abortion, low birth weight, and birth defects.
     Advanced paternal age is a factor for an increased risk of
    limb and neural tube defects, Down syndrome, and new
    autosomal dominant mutations.
    Prenatal Diagnosis

     Ultrasonography
     Maternal Serum Screening
     Amniocentesis
     Chorionic Villus Sampling
    Fetal Therapy

     Fetal Transfusion
     Fetal Medical Treatment
     Fetal Surgery
     Stem Cell Transplantation and Gene Therapy
    Prevention of Birth Defects

     Folate supplementation
     supplementation of salt or water
     Avoidance of alcohol and other drugs during all
    stages of pregnancy

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