An young woman with previous infant death of Congenital Nephrosis attends Antenatal OPD and was seen by junior resident and at 17 weeks seen by a consultant and a referral to a Radiodianosis happened for anomaly scan. There was no documentation regarding Genetic counselling done and no documentation of or history of screening the Parents of the baby for the genetic disorder. The pregnancy was carried to term and a CS was done for breech with Oligonucleotides after explaing the possibility of a child being born with the same disorders again.
A male baby of average size was born which lived for an year and a postnatal diagnosis confirmed Congenital Nephrosis. The treating Pediatrician gives a written representation to the Medical Superintendent that why CVS was not done at 9 weeks and MTP was not undertaken. The questions here are does a resident expected to know about this rare genetic…
