L12: Teratology Flashcards
Def of Teratology
- Study of abnormal fetal development
Factors Affecting Teratogenecity
- Genetic predisposition
- Route & duration of exposure to teratogen.
- Developmental stage at time of exposure
Factors Affecting Teratogenecity
- Genetic Predisposition
Both maternal & embryonic.
Factors Affecting Teratogenecity
- route & Duration of exposure to teratogen
….
Factors Affecting Teratogenecity
- Developmental stage
Types of Structural Defects
Examples of Teratogenic Agents
A) Drugs & medications
B) Alcohol
C) Ionizing radiation
D) Hyperthermia
E) Maternal medical disorders
F) Fetal infection
Drugs & Meds account for ….. of congenital malformations
<1%
FDA classification of drug teratogenicity
Factors affecting access of drug or medication to fetus
Teratogenic Effects of Tetracycline
Anomalies of teeth & bones.
Teratogenic Effects of Antiepileptic drugs (Phenytoin, Carbamazepine & Valproic acid)
- Most common malformations are cleft lip, cleft palate, congenital heart diseases & NTDs
Teratogenic Effects of Oral anticoagulants (Warfarin)
Skeletal & facial anomalies & Dandy-Walker syndrome
Teratogenic Effects of Danazol & androgen
Virilization of female fetus
Teratogenic effects of Chemotherapeutics (MTX & Cyclophosphamide)
CNS & limb malformations.
Teratogenic Effects of Alcohol
Commonest known teratogenic cause
of MR
alcohol
Teratogenic Effects of Ionizing Radiation
Teratogenic Effects of Ionizing Radiation
- Time of Exposure
Teratogenic Effects of Ionizing Radiation
- Doses
Teratogenic Effects of Hyperthermia
Maternal medical disorders causing teratogenecity
Teratogenic Effects of Syphilis
Teratogenic Effects of Toxoplasmosis
Triad of congenital toxoplasmosis:
▪ chorioretinitis, cerebral calcification & hydrocephalus
Teratogenic Effects of Rubella
Teratogenic Effects of CMV
Teratogenic Effects of HSV-2
Incidence of Congenital Fetal Anomalies
Major birth defects occur in about 3% of all deliveries.
Classification of Congenital Fetal Anomalies
Classification of Congenital Fetal Anomalies
- Cardiopulmonary
1) Fetal arrhythmias.
2) Hypoplastic Lt heart syndrome.
3) Diaphragmatic hernia.
4) Transposition of great vessels.
5) Pleural effusion.
Classification of Congenital Fetal Anomalies
- CNS
1) Neural tube defects (NTDs): Spina bifida & anencephaly.
2) Hydrocephalus.
3) Meningocele, meningomyelocele or meningoencephalocele.
Classification of Congenital Fetal Anomalies
- GIT
Gastroschisis, omphalocele, esophageal atresia & duodenal atresia.
Classification of Congenital Fetal Anomalies
- Renal
Polycystic kidney & cystic dysplasia due to obstructive uropathy.
Classification of Congenital Fetal Anomalies
- Skeletal
Osteogenesis imperfecta & heterozygous achondroplasia.
Classification of Congenital Fetal Anomalies
- Genetic Disorders
Classification of Congenital Fetal Anomalies
- Cystic hygroma
…
Etiology of Congenital Fetal Anomalies
- No definite etiology for each fetal congenital anomaly however, prenatal diagnosis is recommended in certain conditions (see below).
Prenatal Dx of Congenital Anomalies
- Indications
Congenital Fetal Anomalies
- Benefits
Congenital Fetal Anomalies
- Techniques
Congenital Fetal Anomalies
- Non-Invasive Techniques
Non-Invasive Techniques in Dx of Congenital Fetal Anomalies
- Fetal Visualization
Non-Invasive Techniques in Dx of Congenital Fetal Anomalies
- Biochemical Markers
Non-Invasive Techniques in Dx of Congenital Fetal Anomalies
- Separation of fetal cells from mothers blood
For chromosomal & genetic studies.
Non-Invasive Techniques in Dx of Congenital Fetal Anomalies
- Dx of Infection
…
Invasive Techniques in Dx of Congenital Fetal Anomalies
Invasive Techniques in Dx of Congenital Fetal Anomalies
- Fetal Visualization
Embryoscopy & fetoscopy.
Invasive Techniques in Dx of Congenital Fetal Anomalies
- Fetal Tissue Sampling
Chromosomal & Genetic Studies in Teratology
Chromosomal & Genetic Studies in Teratology
- Barr Body Testing
For screening of sex chromosome abnormalities
Chromosomal & Genetic Studies in Teratology
- Karyotyping
For numerical & gross chromosomal abnormalities.
Chromosomal & Genetic Studies in Teratology
- DNA Analysis
a) Prenatal diagnosis of single gene (Mendelian) disorders.
b) Twin zygosity determination.
c) Paternity testing.
Screening for Down Syndrome
Screening for Down Syndrome
- Triple Test
Screening for Down Syndrome
- US
Causes of Abnormal MSAFP
Causes of Increased MSAFP
Causes of Increased MSAFP
- physiological
Underestimation of GA, black women, multifetal pregnancy.
Causes of Increased MSAFP
- pathological
Causes of Decreased MSAFP