Obstetrics: session 1
An abnormal fetal phenotype can be caused by environmental factors, chromosomal abnormalities, specific genes or more complex genetic mechanisms. Environmental factors can also interact with a genetic predisposition to produce malformations. For most couples the finding of fetal anomalies will be unexpected, but for some there may be identifiable factors which would suggest that the couple had a high risk of a fetal anomaly. These include:

• A previous child affected with a single gene disorder;
• A family history of a single gene disorder;
• A parent having a chromosomal anomaly;
• Structural anomalies found on ultrasonography .

As families with single gene disorders or parental chromosomal anomalies have the highest probability of recurrence, it is important to identify such couples before they undertake pregnancy. This can often be made by a combination of pedigree analysis, precise clinical diagnosis and genetic testing which is becoming available for an increasing number of conditions. 
After an introductory review talk, cases and pedigree taking will be discussed in tutorial groups. 

Family histories used in the obstetrics tutorial 

for recognising a family pattern as being consistent with a particular form of inheritance.

1.         I would like to know why my son had multiple malformations, and whether it is likely to happen again.
2.         Does Anna need medical surveillance for Marfan syndrome?
3          Will it be possible to have a test in pregnancy?
4          Please  - tell me my son does not have the same condition as my brother had 
5.         What is the cause of Down syndrome in Louise? 

Paediatrics: session 2
In this session we continue to revisit some basic genetic mechanisms, but particularly review multifactorial inheritance where environmental factors interact with a genetic predisposition. Some of the clinical cases in the tutorials stress the importance of DNA tests to aid in diagnosis.

Family histories used in the paediatrics tutorial 

6.         What is the chance that I will have another baby with a neural tube defect? 
7.         Is my baby at risk of the blood disorder which my nephew and niece have?
8.         Why do people in my family fracture their bones so easily?
9.         What caused my son to be only person in our family with neurofibromatosis? 
10.        Why are there several children with Down syndrome in my family?