Born Without Eyes and Ultrasound Couldn't See

Photo: Baby Born With No Eyes

When Taylor Garrison gave birth in October, she was astonished that doctors whisked her daughter, Brielle, out of the delivery room without much explanation.

"They took her out of the room, and they wouldn't let us see her," said Garrison, 15, of Wellington, Fla.

Finally, after six hours of tests, Garrison got to look briefly at her baby and see what doctors were so concerned about.

"She looked like a normal baby, but I could just tell something was wrong," Garrison said.

VIDEO: Brielle Garrison was born without eyes.

Brielle was born without any eye tissue at all, a condition called anophthalmia that leaves a person irrevocably blind.

Garrison also learned this rare diagnosis was one that is almost always missed by ultrasound -- even though hundreds of genetic diseases and deformities once discovered at birth can now be detected with the latest ultrasound technology.

How Ultrasound Could Miss Brielle's Condition

"If you look at the ultrasounds, where the eye sockets are they're just black because the eyes are made of water," Garrison said. But Brielle's eye sockets were just empty.

Dr. Aaron Fay, director of Ophthalmic Plastic Surgery at the Massachusetts Eye and Ear Infirmary, is currently treating 10 patients with the rare disorder.

The condition of either partially (microphthalmia) or completely missing eye tissue occurs in 30 in 100,000 births, and although in concept, Fay said, doctors could perhaps see the missing eyes in utero with an MRI, it is rarely diagnosed in the womb.

"There are skeletal stigmata that could be picked up," Fay said. "But it's most frequently diagnosed at birth."

The condition is not inherited, Fay said, so families have no clue that their child may be carrying the deformity. It could be a genetic mutation, or an unexplained occurrence in the first few weeks of pregnancy.

Garrison said Brielle's genetic screening came up clear.

"She got a chromosome test, and she came back as a normal baby girl," Garrison said.

However, eye and genetic screening specialists say a genetic mutation can sometimes lead to anophthalmia.

How Doctors Could Possibly Know about Anophthalmia

"A number of those patients have a problem on chromosome 13," said Michael S. Watson, executive director of the American College of Medical Genetics.

If a doctor somehow suspects a problem with the eyes, which happened to baby Faith featured by in November, then Watson said mothers could go in for prenatal genetic screening.

"We certainly can test for, with great accuracy, for chromosome abnormalities and that has been the case for 40 years," said Dr. Mark Evans, a member of the American Congress of Obstetricians and Gynecologists.

"There are hundreds of them, however the vast majority occur with chromosome 21, 13 and 18," said Evans, of Comprehensive Genetics in New York City.

With such old technology and more genes discovered every day, one might wonder why every woman wouldn't get prenatal genetic screening.

"But we do not routinely test everybody for everything because we'd bankrupt the country," Evans said.

Evans also thought that occasionally a false security in ultrasounds keeps prenatal genetic screening rates low, in addition to the high costs.

"What has happened in the last 20 years is that many women are being falsely reassured by ultrasound and not going on to genetic testing," Evans said. "In some places the birth rates of these (genetic) problems have gone up."

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