19/07/2023
This baby as a fetus was scanned in May 2021, at 19wks and showed choroid plexus cyst with club foot. So they were advised an amniocentesis but they decided against it. The baby was born with global developmental delay and is on berries supportive therapies at the age of 2yrs.
Points to ponder
1) Do not take ultrasound markers lightly. A choroid plexus cyst or a club foot in isolation carry good prognosis but when there are two markers be very serious about them.
2) NIPT should not be offered when there are ultrasound markers like these. This particular variant would never have been picked up in an NIPT.
3) The cost treating one such child is enormous, let alone the emotional trauma caused to the parents and the family. So all the genetic screening/ diagnostic tests that we offer are cost effective.
4) We do run the tests in next pregnancies of such patients but remember the damage is already done. Most of the genetic diseases even today happen in unsuspected low risk population.
5) A good NT scan and anomaly scan are the most cost effective tools for picking up children at risk of genetic disorders.
