RAD TECH 323

RADIOLOGIC PATHOLOGY

BIRTH DEFECTS

CONGENITAL
DISORDERS
SAINT LOUIS UNIVERSITY
DEPARTMENT OF RADIOLOGIC TECHNOLOGY
 INTRODUCTION

•A congenital disorder(an, or congenital

disease, is a condition existing at birth
and often before birth, or that develops
during the first month of life (neonatal
disease), regardless of causation.
CONGENITAL DISORDER 2
 ETIOLOGY

•Congenital anomalies may be induced by:

• genetic
• environmental factors

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 PATHOPHYSIOLOGY

• During the first 2 weeks of development:

TERATOGENIC – kill / no effect
• During the organogenesis period (3rd – 8th
weeks): TERATOGENIC - major congenital
anomalies
• During the fetal period (9th week – 9th month):
TERATOGENIC - morphological and
functional abnormalities (BRAIN & EYES)
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 Causes of congenital anomalies

•1-Genetic factors
•2-Environmental factors
•3-Combined genetic and environmental
factors (mutlifactorials factors).

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 TYPES OF ABNORMALITIES

1-Malformations: this occurs during the formation of

the structures of the organ (during organogenesis)
results in partial or complete non formation or
alterations in the normal structure.
2-Disruptions: results in morphological change of the
already formed structure due to exposure to destructive
process.
CONGENITAL DISORDER 6
 TYPES OF ABNORMALITIES

3-Deformations: due to mechanical forces

that affect a part of the fetus over a long
period.

4-Syndrome: is a group of anomalies

occurring together due to a common cause .
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 GENETIC FACTORS

• Chromosomal abnormalities occur due to:

• - late maternal age at the time of pregnancy
• - radiation
• - viruses
• - autoimmune diseases,
• - and some chemical agents

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 CHROMOSOMAL ABNORMALITIES

A. Numerical chromosomal anomalies are divided into:

1- polyploidy as triploidy ( a fetus with 69 chromosomes)
and tetraploidy where the fetus has 92 chromosomes.

• Polyploidy leads to severe congenital anomalies and early

abortion.

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 CHROMOSOMAL ABNORMALITIES

2- Aneuploidy (one or more chromosomes is added or missed)

as in:

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 CHROMOSOMAL ABNORMALITIES

B. Structural chromosomal anomalies

• include chromosomal deletion, duplication,
translocation, inversion, and ring and iso
chromosomes.

• It may also lead to severe congenital anomalies or

fetal death.
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 ENVIRONMENTAL FACTORS

1) Infectious Agents:
Rubella used to be a major problem. It causes cataract, glaucoma,
heart defects and deafness.
Cytomegalovirus: The infection is often fatal and if not
meningoencephalitis produce mental retardation.
Herpes simplex, varicella and human immunodeficiency viruses are
other examples.
2- Toxoplasmosis
3- Syphilis: leads to congenital deafness and mental retardation.
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 ENVIRONMENTAL FACTORS

2. Radiation
• Ionizing radiation kills rapidly proliferating cells,
producing any type of birth defect depending upon
dose and stage of development. Ex. Atomic bomb on
Hiroshima and Nagasaki
• Exposure of the pregnant woman to a large dose of x-
ray can lead to microcephaly, spina bifida or cleft
palate
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 ENVIRONMENTAL FACTORS

3. Chemical Agent
There are many dangerous drugs, if have given to the pregnant female, can produce
congenital
anomalies. Ex.:
- Thalidomide (antinauseant sleeping pills) produce limb defects (phocomelia) and heart
malformations.
- Diphenylhydantoin produce facial defects and mental retardation.
Tetracycline (bone and teeth anomalies)
Aspirin may cause harm in large doses.
Cocaine cause birth defect possibly to its effect as a vasoconstrictor that cause hypoxia.
Alcohol cause fetal alcohol syndrome.
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 ENVIRONMENTAL FACTORS

• 5)Hormones:
• Androgenic agents (synthetic progestin to prevent abortion) cause
masculinization of the genitalia of female embryos.
• Endocrine hormones as Diethylstilbestrol cause malformation of the
uterus, uterine tubes, upper vagina, vaginal cancer and malformed testes.
• Insulin which treat diabetes of the mother
• congenital anomalies.
• Cortisone (in large doses) may cause cleft palate.
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 ENVIRONMENTAL FACTORS

6)Maternal Disease:
Diabetes cause variety of malformations as
heart and neural tube defects.
7)Nutritional deficiency: particularly vitamins
deficiency.
8)Heavy metals: Eg: organic mercury.

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 EXTERNAL
CONGENITAL DISEASES
INTERNAL
 EXTERNAL CONGENITAL DISEASES: NEURAL
TUBE DEFECTS

1 2 3

ANENCEPHAL ENCEPHALOCE
LE
SPINA BIFIDA
Y
EXTERNAL CONGENITAL DISEASES: OROFACIAL
CLEFTS

1 2 3

CLEFT LIP CLEFT PALATE CLEFT LIP

ONLY ONLY AND PALATE
EXTERNAL: REDUCTION DEFECTS OF UPPER &
LOWER LIMB
EXTERNAL: TALIPES EQUINOVARUS/ CLUB FOOT
INTERNAL CONGENITAL DISEASES: CONGENITAL
HEART DEFECTS

1 2 3

HYPOPLASTIC ATRESIA:
TETRALOGY
LEFT HEART HEART
OF FALLOT SYNDROME VALVES
ESOPHAGEAL ATRESIA

● CM did not
proceed to the
stomach due to
atresia
LARGE INTESTINAL ATRESIA/ STENOSIS
ANORECTAL ATRESIA
 RENAL AGENESIS
● Absence of one (unilateral) or two (bilateral)
kidneys