Birth Defects

Our clinic is especially skilled in assessing birth defects. Our assessment relies on 

  • the impact of the birth defect

  • the scope of the birth defect

  • the management and the risk of recurrence in other pregnancies or in other family members. 

We have a well-developed, well published expertise in stillbirth and in assisting couples who have experienced tragedy of this nature.  Dr Reardon has written a medical textbook to assist less experienced doctors in identifying the clinical signs which attend birth disorders (link to The Bedside Dysmorphologist). 

What we focus on:

  1. the identification of causation of a birth defect

  2. any predisposition within the parents and implications for wider family members

  3. quantification of recurrence risk in further pregnancy

  4. a detailed discussion as to preconception screening and prenatal screening which can be offered to reassure parents in this invidious situation

We liaise closely with specialist Fetal Medicine clinics to ensure optimal future management of individual patients who seek a further pregnancy following a history of birth defect.


NOTE : Our detailed understanding of the tests offered, many of which we have had a hand in developing over the last 30 years, means that the scope for misinterpretation of tests is minimized

Some Facts on Birth Defects and the Genetic Link 

Birth defects are common. Among liveborn infants in the Western world, 2 to 3% will have major malformations diagnosed within the first days or weeks of life. Among stillbirths, the number of cases with malformations is higher, perhaps accounting for 15-20% of all stillbirths.

These malformations reflect abnormal development in the embryonic and fetal life. Many of these abnormalities of development reflect genetic causes, be they: 

  • abnormal chromosomes, 

  • mutation in single genes which arise as new events, 

or even 

  • genetic disorders within families but which have never been properly recognized as such.