Undetected in Chromosomal Tests & Ultrasounds – Baby born without eyes

A baby girl born with no eyes has shed light on the gross shortage in ultrasound scanning technology.

When fifteen-year-old Taylor Garrison gave birth to baby girl Brielle, she was astonished to note the doctors whisking the baby away sans any elucidation.

Garrison stated that a 6-hour-long testing was carried out by the medics on her baby for assessing her atypical condition. Though appearing like just another normal baby, she is born with no eye tissue due to a condition known as anaophthalmia that leads to irreversible blindness.

In the case of Brielle, the routinely performed ultrasound scans during pregnancy failed to spot this irregularity as the eye sockets generally seem black during the scan. Her eye sockets are totally empty with no eye balls present in them. Brielle’s mother would have to continue taking her baby girl to the doctors over a span of some years for implantation of conformers – eye balls that contain hydrogels which would be helpful in increasing eye socket size to help in innate growth of the facial make-up.

This atypical condition inflicts nearly thirty in every ten thousand infants born and doctors are unclear what the reasons behind these cases surfacing are. A number of doctors believe that the missing eyes or skeletal stigma could probably be detected during pregnancy using Magnetic resonance imaging or MRI technique. However, it is most often identified following child birth. This condition is also heritable and there are several families unaware of them being carriers of a recessive gene.

Garrison underwent a chromosome test that gave a normal test outcome. The little girl would most probably be undergoing several surgeries to help prevent facial deformation. An expert in prosthetic ailments for the eye would create conformers which are plastic-based structures to assist in supporting the face and encouraging eye socket growth. With the face developing as the child grows, new conformers would be required.

A child having anophthalmia would additionally require using expanders alongside conformers for further enlarging the eye socket. When the face completely develops, then prosthetic eye would be placed though they would not be able to reinstate eyesight.

A coloured prosthesis appearing alike a normal eye is generally fitted when the baby is 1 to 2 years old, prior to which clear conformers would be used. The conformers when placed would make the eye sockets appear black and in an interval of every couple of weeks, the infant would be progressing to bigger sized conformer till he/she reaches 2 years of age. Till the child reaches ten years of age, by and large 3-4 new prostheses would be required.

As genetic screening is quite expensive, it cannot be performed on every expectant mother. Several experts believe that in the past two decades several women have been fallaciously assured by ultrasound scans and for not undergoing genetic testing.

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