CONG MALF ETIOLOGICAL CLASSIFICN

Table 6.1 Etiologic classification of congenital malformations

Primary (genetic) 
Chromosomal abnormalities

• Numeric

– polyploidy

– polysomy

– monosomy

• Structural

– deletions

– duplications

– insertions

– translocations

Monogenic

• Point mutations

– nonsense

– mis-sense

– frameshift

• Dynamic mutations

– triplet amplification

• Epigenetic regulation

– imprinting defects

– uniparental disomy

Polygenic

– oligohydramnios

– uterine malformations

ENVIRONMENTAL-SECY

Biologic agents

• Viruses

– cytomegalovirus

– rubella

– herpes viruses

• Bacteria

– Treponema pallidum

• Parasites

– Toxoplasma gondii

Chemical agents

• Drugs

– antiblastics

– anticonvulsants

– antibiotics

• Abuse substances

– alcohol

– smoke

– cocaine

– opiates

• Metabolic conditions

– hyperglycemia, hyperinsulinemia

– hyperphenylalaninemia

– hyperandrogenism

• Physical agents

– ionizing radiation

– electromagnetic radiation

• Vascular disruptions

– subclavian artery vascular

disruption

– twin-twin disruption sequence

• Mechanical causes (deformations)

– amniotic bands

– twinning

– uterine tumors