Skip Navigation LinksHome Page    >    Multiple Defects
Pregnancy links...
Health links...
Genetics links...
Medical links...
Autism links...
Other links...

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


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.


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.


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.
Haven't found what you're looking for? Search for it here:   
Comments (3)

Monday, August 13, 2018 12:28 AM
(1) click over here  says:

click over here

I grateful to you for sharing this plethora of useful statistics. this is my first go to for your internet magazine! we are a collection of volunteers and new sports inside the same forte. the website gave us beneficial information to work. I found this useful resource utmost beneficial for me. thanks, plenty for difficult work. click over here

Wednesday, August 15, 2018 6:10 AM
(2) look at this sit  says:

look at this site

In this article, we will discuss how to create a good blog. Remember that blog stands for web log. Make it personal to you and make sure to have fun while at it. There are no hard and fast rules about what you can and cannot do when blogging. A blog is one of your most important marketing tools. Customers love blogs because they're generally full of great free information.look at this site

Wednesday, August 15, 2018 7:19 AM
(3) See more  says:

See more

I truly fee the sort of topics you publish here. A debt of gratitude is in order for sharing us a brilliant record that is surely useful. I am extremely happy to have come upon your net web site.I had in no manner found such valuable information earlier than. I moreover have my very own net web site and if you do want to visitor put up for me I can be satisfied. See more

Leave a Comment
Email (will not be published)
Website (optional)
Your Comment

Line and paragraph breaks are automatic. Some HTML allowed: <a href="" title="">, <b>, <i>, <strike>

Please type the characters you see in the picture:

All content Copyright © 2009-2011, Genetics of Pregnancy Encyclopedia Corporation. All rights reserved.