Dear doctor,

 

I am in the 24th week of my 2nd pregnancy. I have just had a scan that suggests my fetus has major developmental abnormalities. Why has this happened and what should I do? Please advice. 

 

The diagnosis of any abnormalities in an unborn baby is very distressing. Luckily this occurs in only a small proportion of all pregnancies. Some abnormalities will just be minor, and tend to be compatible with life. Major abnormalities may be incompatible with life. Still, other abnormalities may be amenable to surgical correction, either prior to birth or after the baby has been born. 

 

Most abnormalities tend to arise sporadically, without any obvious causes. In some, there might be a familial predisposition to certain abnormalities, for example heart defects. Elderly couples harbor a higher risk of genetic abnormalities. But there are abnormalities that can be associated with environmental, lifestyle and other individual characteristics. A common example is abnormalities of the spine (called spina bifida), which is associated with Folic Acid deficiency, and is preventable with appropriate supplementation. 

 

With modern antenatal care, fetal abnormalities should be diagnosed well before the pregnancy advances to a viable state. The 12th week scan can diagnose some abnormalities. This early scan can also be combined with additional testing for chromosomal abnormalities. A further scan done around the 20th week is crucial for detecting structural abnormalities. The fetus is usually large enough by then to allow detailed assessment of all the developing organs. 

 

If a major abnormality has been detected, judgment must be made about compatibility with life. Or whether there is any meaningful chance of correcting the abnormality. Major abnormalities deemed incompatible with life will necessarily mean that the pregnancy should be terminated. If it is deemed feasible to continue with the pregnancy, an appropriate team must be put in place as the baby would obviously require specialized care at birth. Such a team includes specialized Obstetricians, Pediatric surgeons, and newborn intensive care specialists.  

 

The law allows for termination of a pregnancy affected by major fetal abnormalities. Once the baby is born, an assessment is necessary to confirm the diagnosis. This might involve doing a post-mortem. There should then be a determination about the potential causes for the abnormalities. For the majority, there will be no apparent preventable cause. It may be distressing not to know why the abnormality occurred, but reassuringly such random abnormalities tend not to recur. Any indication of a preventable cause will prompt appropriate precautions and care in subsequent pregnancies. 

Please make arrangements to see your obstetrician and discuss the viable options. Take your partner or a close family member, or even a supportive friend with you. Make sure you understand everything so you can make the right decisions. Be ready to accept the offer of some psychological support, or links with relevant support groups. Be confident that future pregnancies will likely be just normal. 

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Last modified on Friday, 19 May 2017 05:53

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