Infant With Prenatal Defects Suffers Permanent Neurological Impairment

Maternal-Fetal Medicine Expert

This case involves a pregnant woman whose fetus was found prenatally to have a defect in the lower chambers of the heart and kidney failure. The baby was born prematurely and was intubated in the NICU. He was diagnosed with brain and eye malformations, brain bleeding, and fluid build-up. He was taken for a ventriculoperitoneal shunt to relieve pressure on his brain caused by the fluid accumulation. After receiving anesthesia, the baby went into cardiac arrest and began experiencing seizure activity. The baby sustained substantial neurologic impairment as a result of the seizure. An expert in maternal-fetal medicine was sought to review the prenatal care and discuss how these prenatal conditions should be diagnosed.

Question(s) For Expert Witness

  • 1. How often do you diagnose fetus' on antenatal ultrasound with VSD and renal dysfunction?
  • 2. Once diagnosed, how would you communicate the child's antenatal, postnatal, and long-term complications?

Expert Witness Response E-185967

VSD is the most commonly diagnosed congenital heart defect on antenatal ultrasound. VSD is quite commonly identified in fetuses with congenital heart disease prevalence of 0.9%. It is also quite common for isolated VSDs to be missed on antenatal ultrasound if they measure <3mm. Renal dysfunction describes a pathophysiologic state and may not translate into any identifiable structural abnormalities on ultrasound examination. Conversely, renal structural abnormalities are often identified on antenatal ultrasound and may sometimes translate into long-term renal dysfunction depending on the type of renal lesion. In the setting of any severe renal abnormalities identified on ultrasound (ie, bilateral multicystic dysplastic kidneys, bilateral renal agenesis, and polycystic kidney disease), we counsel parents regarding the long-term prognosis. This counseling would, of course, be individualized depending on the severity of the ultrasound findings and would include the option of termination.


Expert Witness Response E-181929

VSD can be easily missed on prenatal ultrasound. If a VSD is seen, amniocentesis is usually recommended to test for other anomalies. If the patient declined an amniocentesis, it limits the ability to diagnose problems prenatally. You cannot really diagnose renal dysfunction via ultrasound. You can only diagnose structural abnormalities that may indicate or affect renal function. Peter’s anomaly cannot be diagnosed by an ultrasound. Unless there was total kidney dysfunction (no kidneys, infantile polycystic), it is usually something treatable. It is rare that patients would terminate for a VSD and/or Dandy walker abnormality. Hydrocephalus usually shows up too late (after 24 weeks) for parents to decide on termination based on hydrocephalus. Even if patients want to terminate a pregnancy at 24-28 weeks, this is usually not feasible.


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