Cyclopia Syndrome: A rare and severe birth defect explained
Healthcare expert highlights early detection of Cyclopia through ultrasound
SHAH ALAM – Cyclopia, a rare birth defect characterised by the presence of a single eye and the absence of a nose, is a severe developmental anomaly.
This condition occurs in approximately one in 100,000 births and is often associated with other abnormalities.
High-Risk Pregnancy Specialist Professor Dr Imelda Balchin said the condition could be detected as early as 11 weeks of pregnancy through a detailed 2D ultrasound scan.
"Observe the first image: a normal brain has two distinct halves, left and right, resembling a butterfly.
"In cases of abnormal development, the brain fails to divide and remains fused, a condition known as holoprosencephaly.
“In the second image, holoprosencephaly occurred in one out of every 8,000 births.
"However, the most extreme form, cyclopia (a single eye), was much rarer, occurring in only one out of 100,000 births," she said in a Facebook post on Thursday.
Dr Imelda stressed that this was something she routinely checked for in all pregnant mothers who underwent ultrasound scans at 11 or 12 weeks of pregnancy.
She pointed out that, shortly after fertilisation, all embryos initially developed with a single brain and eye, and without a nose.
"At this stage, all humans begin similarly. Over time, the brain and eyes divide into two. Problems arise when this developmental process fails," she added.
Dr Imelda clarified that such abnormalities were more common than many realised, affecting one in 250 pregnancies.
However, she stated that most cases resulted in early miscarriages, which is why babies with such defects were rarely carried to full term.
"This failure of brain division could be caused by factors such as uncontrolled diabetes before pregnancy or advanced maternal age, where aging eggs might result in an extra chromosome 13, known as trisomy 13 or Patau Syndrome," she said.
She added that certain gene mutations and folic acid deficiency also contributed to the condition.
"This is why women are advised to take folic acid supplements before and during pregnancy to reduce the risk of brain and spinal defects," she said.
Dr Imelda further described that most early miscarriages likely occurred because the embryos were not developing normally.
"Allah SWT spares you the burden of raising a child with severe defects by allowing these pregnancies to end before 12 weeks," she said.
She dispelled misconceptions, clarifying that eating fruits like pineapples did not cause miscarriages.
"Do not believe in superstitions like ‘kenan’—those are baseless myths," she advised.
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