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Short Notes on Congenital Abnormalities 2017 - Dr Mark Burgin

03/09/17. Dr. Mark Burgin BM BCh (oxon) MRCGP considers the elements that should be included in a primer for clinical negligence cases involving congenital abnormalities.

Congenital abnormalities are changes noticed at birth to the structure of a baby due to genetics, nutritional, infections or drug causes.

Cases of wrongful birth are based on alleged negligence of the ultra-sonographer with the parent stating that they would have had a termination but for the failure to detect the abnormality.

Many residents in the UK frequently access global health care either by visiting other parts of the world or online medical testing and drugs.

In the future there will be increasing numbers of blood tests which by detecting the foetal DNA in the mother’s blood and will not only diagnose conditions such as Downs but also find risk factors for conditions.

Wrongful birth

Failure to detect an abnormality on ultrasound is subject to a range of opinion with some experts of the opinion that if the abnormality is not on the check list then failure to detect it cannot be negligent.

Abnormalities which are associated with relatively mild disability or are treatable surgically are not normally terminated which acts as a defence for the practitioner.

There is a general discomfort with these cases as the parent must say that they would have prevented the child from being born that they are now raising.

The expert may be challenged if the parent appears conflicted between saying that they would have had a termination and they love their child.

This apparent inconsistency is a normal response and is made more difficult if the termination could have been based upon a test result which might be wrong.

A primer on congenital abnormalities would need to fully address the ethics of this type of case so that the expert has clear instructions as to how to approach the case. (1)

Developmental abnormalities

The embryo undergoes most development in the first 8 weeks of pregnancy, at a time before the mother may be aware that they are pregnant.

The sequence of development is precisely controlled and can be looked up on a chart of organ development related to the age of the embryo. (2)

Many drugs, particularly for sickness, have been associated with congenital abnormalities although some such as folic acid and Vitamin D have been associated with reduced incidence.

The pattern of the Congenital abnormalities can give a precise date when the abnormality is likely to have occurred and this can be compared with the mother’s records.

If the mother took a medication at the correct time to cause that abnormality and the drug is known to cause that abnormality there is strong proof of causation.

The yellow card system can be used to report these associations and can also give the lawyer feedback of how frequently that association occurs. (3)

Cerebral palsy

Research looking at whether birth injury causes cerebral palsy have suggested that only about 10% the of cases are because asphyxiation around the time of birth. (4)

Damage to the brain can occur as part of an embryological insult (drugs or nutrition), from infection of the foetus or due to genetic changes throughout pregnancy such as trisomy.

Few pregnant women are offered termination when they have a moderate or even high risk of foetal alcohol syndrome and the use of alcohol substitutes is not mentioned in current advice. (5)

Rubella can cause injuries to the brain as well as the better known eye and ear problems and should be suspected when there is an outbreak of the illness and the maternal antibodies show conversion.

Zika and other illnesses are associated with foreign travel and can indicate a breach in advice prior to travel and a breach in management of minor symptoms following return.

In premature birth the brain is more prone to strokes and white matter damage due to trauma of passing through the birth canal particularly if delivery is rapid.

The cause of premature birth includes nutritional deficiencies detected on blood tests which are treatable.

Conclusions

A primer on congenital abnormalities is needed to assist the issue of cerebral palsy as asphyxiation around the time of birth often contributes to, rather than causes cerebral palsy.

The lack of ethical guidance of wrongful birth has impeded development of this field and urgent work is required to consider how global adoption of new technology will alter pre-natal testing.

Failure by practitioners to consider the preventable causes of cerebral palsy such as improved nutrition, avoiding teratogenic drugs and reducing alcohol intake by prescribing substitutes may be found in breach.

An analytical approach to congenital abnormalities by an expert with investigation of the possible causes reduces the distress of the parents by giving an explanation even where there is no negligence.

Doctor Mark Burgin, BM BCh (oxon) MRCGP is on the General Practitioner Specialist Register.
Dr. Burgin can be contacted This email address is being protected from spambots. You need JavaScript enabled to view it. and 0845 331 3304 website drmarkburgin.co.uk

  1. Parkinson v St James’ [2001] 3 All ER 97.

  2. Moore (2015) The developing human, clinically orientated embryology (book) Saunders 10th edition.

  3. Yellow Card Scheme https://yellowcard.mhra.gov.uk/

  4. Clark (2003) Temporal and demographic trends in cerebral palsy--fact and fiction. Am J Obstet Gynecol. 2003 Mar;188(3):628-33.

  5. BMA 2007 update 2016 Alcohol and pregnancy Preventing and managing foetal alcohol spectrum disorders

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