Mrs Miller became pregnant and, having terminated a previous pregnancy where she had been told that the baby had a chromosome abnormality called Trisonomy 13, had an early 8 week scan as recommended. She was referred for a further scan and chorionic villus sampling was performed to check for chromosomal abnormalities. She was then told that the tests were clear and that there were no problems with the baby’s chromosomes. She had several scans performed during the pregnancy and, on each occasion, was told that there were no problems. She went into labour at 38 weeks and gave birth to baby who had a harelip and cleft palate, which were subsequently corrected surgically.
At nearly 3 years old, severe disability (both mental and physical) was apparent and the child was considered never to be capable of living independently. After an MRI scan, Mrs Miller was advised that her child was suffering from holoprosencephaly. Mrs Miller was subsequently referred to a geneticist who retrieved the records relating to her earlier pregnancy and advised that the first baby had also suffered from holoprosencephaly but not from Trisomy 13.
The brain and facial abnormalities from which the child was suffering were similar to those suffered by Mrs Miller’s first baby, who had been wrongly diagnosed as having Trisonomy 13. There was also a suspicion that the screening performed during Mrs Miller’s second pregnancy was inadequate in that, the absence of any chromosomal abnormality during that pregnancy, had lulled the clinicians into a false sense of security. Therefore, the abnormalities in the brain and face were not detected on any of the ultrasound scans.
Mrs Miller said that, had she been advised of the abnormalities, she would have terminated her second pregnancy.