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Multiple defects (a combination of several defects in a number of organs not defined as a recognized syndrome)


Types

The causes of multiple defects:
  • Genetic disorders - various syndromes such as chromosomal syndromes (e.g. Down syndrome or another chromosomal syndrome), or genetic, non-chromosomal syndromes. There are more than 5,000 genetic syndromes.

  • Environmental causes, such as:

    • Drugs

    • Pressure on the embryo during pregnancy at a critical stage in the development of certain organs. This may result in agenesis, abnormal development, or even destruction of the tissue that the blood vessels supply -this latter situation is known as disruption.

    • Others


  • A single defect causing the development of multiple other defects, such as the Pierre Robin sequence.

Because there are many syndromes, it is necessary to ascertain the exact type. The diagnosis can be determined at genetic institutes. The patient must be examined by a geneticist in order to assess whether he/she has a genetic condition at all, and if so, to diagnose exactly what syndrome he/she has.

Clinical signs

Each syndrome has its own specific combination of defects.

Inheritance pattern

This depends on which syndrome the patient has.

Penetrance

This depends on which syndrome the patient has.

Associated features that can be demonstrated in tests performed during pregnancy

This depends on the spectrum of defects associated with the syndrome.

Not all defects can be identified by ultrasound, and it is important to be advised about the exact date on which the defects can be reliably seen on the ultrasound examinations performed during pregnancy.

When multiple defects are detected in pregnancy, it is recommended that the patient undergo amniocentesis to look for the presence of a chromosome disorder.
In all these cases it is important to refer the couple for genetic counseling, to which they should bring all data, including the results of other tests performed during the pregnancy such as alpha-fetoprotein, nuchal translucency, etc.

In cases of multiple defects, it is advisable to refer the parents to a multidisciplinary clinic in a hospital for professional counseling by a geneticist, an expert in ultrasound examinations, an expert in the problems/defects concerned, a plastic surgeon or other surgeon specializing in the defects, and a neonatologist, in order to collate all the data and discuss the various risks in each specific case, the method of monitoring the fetus, possible intervention if indicated, etc. The decisions taken will depend on the severity of the problem, the presence of additional findings, etc.

What is the risk of recurrence in a subsequent pregnancy?

This depends, of course, on the type and cause of the syndrome, and is ascertained within genetic counseling once the exact diagnosis has been made. In cases where the cause is environmental and not genetic, the risk for recurrence in other relatives is not high. However, the mother should undergo a separate examination to ensure that the environmental problem does not persist.

The risk for more distant relatives depends on the number of affected individuals in the family, the degree of relationship between the relatives and the affected individuals, etc, and is established within genetic counseling.

Molecular genetic information

The gene for the disease

This depends on which syndrome the patient has.

Location

This depends on which syndrome the patient has.

Genetic testing

Diagnostic testing

This depends on which syndrome the patient has.

Carrier testing

This depends on which syndrome the patient has.

Fetal testing

This depends on which syndrome the patient has.
 
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