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What to do if you have an abnormal foetal echo?

Most of the expectant mothers who come to know on their 18 weeks anomaly scan that the foetus they are carrying has an abnormal heart don’t know what to do. Out of the total of such women, 22% of them go into depression and 39% traumatic stress and this maternal stress further leads to impact the somatic growth, cardiovascular health and neurocognitive development. Elevated maternal physiological stress during pregnancy can negatively affect the foetal and child outcomes due to high maternal cortisol (stress Hormone) levels .

Most of the parents who have been diagnosed with abnormal heart will go back to their gynaecologist and ask what to do and majority of them will end up in termination of pregnancy especially in case of the first baby. But this is not the right approach. One should discuss about the cardiac condition with Foetal Cardiologist or Paediatric cardiologist who is trained to manage such congenital heart defects. Understanding the cardiac condition with the help of cardiac diagrams, comparing normal foetal heart diagram with the abnormal anatomy of the heart helps in better understanding of the foetal heart disease. Further, discuss the natural history in utero (e.g Perimembraneous VSD 4-35% close in fatal life, 2-31% of muscular VSD close in foetal life but malalignment VSD or double committed VSD do not close spontaneously) the potential for a change in or progression of disease (e.g. the development of HLHS or worsening of AV valve regurgitation in AVSD) and prognosis for the remainder of pregnancy. One should become aware of the possible associations of Congenital Heart Disease with specific genetic, chromosomal or syndromic anomalies and their possible implications for management and outcome.

Expectant parents should discuss the possible range of treatment and management strategies - both in-utero as well as after birth. Information about the long term post natal prognosis based on the accurate and contemporary data must be sought. Genetic counselling must be sought, genetic disorders which are quiet common associated with congenital heart disease must be ruled out by getting amniocentesis done followed by genetic testing with FISH, microarray or karyotyping techniques. Such testing help in making decisions about the continuation of the pregnancy / termination or in planning for specific needs at birth for care beyond the heart.

Many families turn to the internet for additional information regarding their child’s cardiac abnormality. Going through such prescreen could be helpful but one should be extremely cautious of the worthiness of the referring websites. Talking to parents whose children have been treated for congenital heart diseases helps in limiting the feeling of isolation and could go a long way in providing support to the expecting parents.

Decision making about the pregnancy termination or about nonintervention and palliative care at birth for severe anomalies is complex and personal process. A Counsellor can provide families with all tools and support necessary to come to a decision that is best suited for them but should be careful so as not to impose his personal bias.

Medical science has come a long way in treating many a diseases which used to used go undiagnosed a couple of years ago. The suffering parents should take proper steps to educate themselves about the abnormal foetal heart and must not rush to terminate the pregnancy.

Dr Amitoz Singh Baidwan Paediatric Cardiologist Ace Hospital, Chandigarh

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