8.7 Embryopathies

Physical agents

Ionizing radiation:
Ionizing radiation causes breaks in DNA strands and thus disturbs replication. The effects it has on the embryo depends on the absorbed dose (lethal dose: 150 cgy - centi Gray - in gonad dose), and on the developmental stage of the embryo or fetus.
In Hiroshima and Nagasaki after the nuclear irradiation one determined that especially injuries in the area of the nervous system and the eyes occurred that resulted in psychomotoric retardation, microcephalia, spina bifida cystica and ophthalmic abnormalities (cataracts).
Cerebral malformations were never diagnosed when an irradiation was below 50 cGy. According to this data, during a pregnancy, the dose of radiation, directed at the gonads, should never exceed 10 cGy.
During a radiodiagnostic examination 2 cGy are emitted. A single x-ray should not, therefore, be grounds for an abortion.
Nevertheless, in pregnant women, for safety reasons, every radiodiagnostic examination should avoid the pelvic region when possible.

Further factors

Maternal diabetes:
Maternal diabetes leads to a disorder of embryonic and fetal development.
Especially in the embryonic period a badly controlled diabetes with continuous hyperglycemia and an associated ketosis can increase the risk for congenital abnormalities by two or three times. Besides a macrosomia (size) and the holoprosencephalia (error in the separation of the brain into two hemispheres), one also observes an increase in heart diseases and the "caudal atrophy syndrome" (16, 17).

Fig. 21 - Holoprosencephalia  Legend
Fig. 21
Semilobe holoprosencephalia with incomplete separation between the two cerebral hemispheres

© Institut de pathologie, CHUV, Lausanne

More info


Phenylketonuria (PKU):
Maternal phenylketonuria is a potential, metabolic teratogenic factor that increases the risk of abnormalities of the CNS and heart. These abnormalities can be prevented when the mother holds to a phenylalanin poor diet.

More info

Interesting site in French about maternal phenylketonuria


Spontaneously, around 2 to 3% of the children are born with a visible abnormality.
At the time of delivery many anomalies are not yet recognizable. One assumes that up to 10% of the newborns have congenital anomalies.

The distribution of these abnormalities and their causes is as follows:
  • Multifactorial, inherited origins: 10 - 20%
  • Chromosomal origins: 3 - 5%
  • Connected with irradiation: >1%
  • Connected with medications or chemical substances: 4-5%
  • Unknown origin: 65 - 70%

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