Dr Shivanee Shah
Prenatal testing and its perceived benefits have been in focus for a long time. There has been widespread debate and passionate arguments on both sides. In India, where the law allows termination of pregnancy before 20 weeks, there are several prenatal tests that are available only after 20 weeks. This dichotomy produces considerable anxiety and stress to would-be parents who may need such information within the legal timeline for pregnancy termination.
Here is a success story in which prenatal tests were able to relieve the parents of their stress and sleepless nights. Maya (name changed) was extremely excited at being pregnant and was looking forward to a healthy baby. However, the 12-week routine sonography was about to change her perspective on the pregnancy. Ultrasound imaging identified a small dorso-lumbar swelling in the foetus. The doctors treating her, in her rural town of Maharashtra, were unable to provide her further guidance and decided to follow-up with a sonogram. The 22-week sonography confirmed the presence of the cyst, while the foetus displayed normal movement with no other abnormalities detected. The swelling could be indicative of either a meningocele or meningomyelocele, which are common congenital defects caused perhaps due to folic acid deficiency, exposure to certain drugs such as antiepileptic valproate, or other illnesses such as diabetes. Genetic and environmental components may also be involved. In the case of Maya, the cause of the swelling was not determined.
Meningocele is a cystic swelling formed by the protrusion of the dura and arachnoid mater without the involvement of the spinal cord. Treatment is rather straightforward, involving postnatal surgical repair. By contrast, meningomyelocele is a far more serious condition where, in addition to meningeal protrusion, there is the involvement of the spinal cord. This results in the weakness of both lower limbs, bowel and bladder incontinence and ultimately, a wheelchair-bound life. Hydrocephalus is another associated condition with meningomyelocele that involves the enlargement of brain cavities due to fluid accumulation, resulting in cognitive dysfunction, papilledema, optic atrophy and blindness. Though shunt placement surgery alleviates symptoms of hydrocephalus, the procedure comes with its own set of neurosurgical complications. Thus, the prognosis for a meningomyelocele is far worse compared to meningocele.
In the case of Maya, since sonography could not help in differentiating the type of lesion in the foetus, the patient was referred to Mumbai to a leading gynecologist and obstetrician, Dr. Nikhil Dattar, who further referred Maya to a paediatric neurologist, Dr. K. N. Shah, to advice on the prognosis of the foetus. A foetal MRI was done as a further diagnostic test. The MRI confirmed that there was no hydrocephalus, and the condition was diagnosed to be meningocele. Based on these results, Maya was advised to continue with the pregnancy and then consult a neurosurgeon for surgical removal of the cyst postnatally.
The foetal MRI turned out to be a boon for the patient. While the ambiguity in regular sonography finding was the reason for many sleepless nights for Maya and her family, a more robust and in-depth study such as the foetal MRI was able to alleviate her anxiety and concerns. “The parents are extremely relieved and very happy that their unborn foetus has a good prognosis and the condition is treatable by postnatal surgery. They are tremendously thankful for the advances in prenatal testing and the closure they have received,” says Dr. Shah.
The outcome for Maya was good. However, had the foetal MRI indicated a meningomyelocele as the diagnosis, this narrative would have been entirely different. The parents would have had to undergo counselling and would need to consider aborting the foetus. Indian laws dictate that pregnancies beyond 20 weeks cannot be legally aborted. Since the pregnancy had already run into the 23rdweek at the time of the foetal MRI, this case would have needed to be considered by the Supreme Court. In recent past, the Supreme Court has been lenient in granting permission for late abortions for mothers who request them in the light of poor prognosis for their foetus. Specially, Dr. Nikhil Dattar has been instrumental in highlighting such cases and has been successful in helping parents in their cause. Prenatal testing can be a boon not only to alleviate anxiety, but also in helping parents make a choice about the foetus in a manner that would be more mentally, emotionally and rationally acceptable.
Dr Shivanee Shah