Obstetrics and Gynecology - A.M. Gromova 2000

Medical Genetic Counseling in Obstetrics
Hereditary Diseases and Congenital Malformations
Classification of Congenital Malformations

I. According to the sequence of occurrence, developmental defects are classified into Primary and secondary.

Primary defects are a direct consequence of genetic factors.

Secondary defects are complications of primary ones and have a direct morphological connection to them (for example, occlusion of a defect resulting from internal organ hypoplasia).

II. Depending on the extent of organ and system involvement, Congenital Malformations are classified as isolated, systemic, or multiple.

III. Depending on the developmental stage at which the damage occurs, they are classified into:

1. Gametopathies (Gene Mutations and Chromosomal aberrations in the parental Germ Cells).

2. Blastopathies (gene mutations during the early Cleavage Stages of the fertilized egg).

3. Embryopathies (alterations occurring up to the 8th week of Pregnancy).

4. Fetopathies (alterations occurring before the birth of the child).

5. Neonatopathies (alterations occurring in the neonatal period).

IV. According to the localization of isolated systems:

1. Defects of the Central Nervous System and Sensory Organs.

2. Defects of the face and neck.

3. Defects of The Cardiovascular system.

4. Defects of the Respiratory system, etc.