Cystic Fibrosis Testing
Case #62
A young woman and her husband became pregnant in 2016.
They presented to a local OBGYN and discussed routine testing.
The doctor documented a plan to obtain 2 types of testing through Quest:
QNatal testing - detects fetal trisomy 13, 18, 21
Carrier screening - detects if mother is a carrier for 3 autosomal recessive diseases:
cystic fibrosis
spinal muscular atrophy
fragile X
The patient completed the testing, and was told the results were “normal”.
Unbeknownst to the patient, only the QNatal test was ordered and completed.
No carrier screening was done.
Fortunately, the baby was healthy.
Newborn screening did not detect any issues.
The couple became pregnant again in 2018.
They did not request carrier screening because they believed that it had already been completed, and that the mother did not carry any risk for CF, Fragile X, or SMA.
The second child was born and unfortunately was diagnosed with cystic fibrosis.
Join 6300+ doctors and lawyers on the email list:
The family filed a lawsuit against their OBGYN.
An expert witness was hired and wrote the following opinion:
The lawsuit is ongoing.
MedMalReviewer Analysis:
This case illustrates an example in which better patient access to medical records may have averted a bad outcome. While there are certainly downsides to patients having immediate access to medical records, this is an example in which a bad outcome could have been averted.
This lawsuit has strong parallels to a previous case in which a patient was tested for herpes, was falsely told it was negative, and his girlfriend was inadvertently infected.
In both cases, results were communicated in error.
In both cases, it was not the patient who suffered the bad outcome, but their loved one.The financial risk here for the defendants and their insurer is huge. All the ingredients for a massive verdict are present; a young family that will be viewed sympathetically by a jury, a child who will require millions of dollars of specialized care, and a clear failure by the doctor.
"Thanks for all the work you do in putting these together. Always so interesting to look at cases and see how things unfold. The cases also make great teaching points for the residents on rounds." - Dr. Emily Rushing
“If you are thinking about doing expert witness work, I would highly recommend paying for Med Mal Reviewer's subscription service.”
This happens all the time that tests get ordered but the lab doesn’t always do the ones ordered. The doctor did not give false information- the Qnatal test was normal. This is another example that doctors have targets on their backs. The labs so often don’t process orders. I am sure this doctor goes through many labs daily and comments on the results. Now, he needs to go back to the original order and make sure everything got done? I guess that is the point.
I am willing to bet that Quest called and wanted the patient o pay the patient responsibility for the Q natal and the carrier screen. They paid for the Q Natal because everyone wants to know fetal sex but not for the carrier screen. It happens all the time in my office. I tell them that the carrier screen is important but they didn't pay attention in high school and don't understand the concept.. I have no responsibility for paying for their test and cannot control their genetics. Anyway, Quest will have the refusal noted. The real issue is that the doctor told them "everything is all right " but he really didn't know that.