Can albinism be detected during pregnancy?

Written by Du Rui Xia
Obstetrics
Updated on September 01, 2024
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Prenatal genetic testing during pregnancy can be used to diagnose albinism. The incidence of albinism is very low, making it a rare disease clinically, yet it is not included in routine prenatal screening programs. If there are family members with albinism, especially couples who have already had children with the condition, prenatal testing and genetic counseling are necessary. Prenatal genetic testing can identify the specific gene mutation sites within the family. Furthermore, it allows for the use of third-generation IVF techniques to select embryos without the paternal or maternal gene mutations, which can then be implanted in the mother's body to prevent the birth of another child with albinism.

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Written by Gao Tian
General Surgery
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Can people with albinism have eye surgery?

Generally, it is possible. Because people with albinism have eyes that are more sensitive to light, mainly because albinism affects the sclera and eyeballs, leading to this condition. However, surgery cannot restore the lost pigmentation in the eyeballs, meaning it is impossible to change the alterations on the eyeballs. It is necessary to prevent strong sunlight exposure, and the only option is to wear sunglasses, which can also reduce the stimulation of ultraviolet rays to the eyes, protect the eyes, reduce external damage, and ensure one can live normally as much as possible. Additionally, this type of disease may lead to malignant skin diseases and other issues due to prolonged exposure to sunlight.

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Written by Huang Ling Juan
Dermatology
1min 9sec home-news-image

If vitiligo is not treated, what are the consequences?

If albinism is not treated, it can have serious consequences. Primarily, albinism affects the pigmentation of hair and the retina at the back of the eye. Lack of pigment in the retina can lead to photophobia, and some individuals may experience nystagmus, with severe cases showing a significant decrease in vision. The vision of some individuals with albinism may range between 0.05 to 0.1, which has a significant impact on eyesight. If left untreated, albinism also greatly affects the skin. Individuals with albinism are sensitive to light and are prone to skin cancer under strong ultraviolet radiation. Moreover, some rare types of albinism can cause a decrease in platelet function, leading to a tendency to bleed at a certain age, as well as pulmonary fibrosis. Albinism is primarily a genetic condition caused by mutations and is linked to heredity. The main issue in albinism is a disruption in melanin formation, leading to reduced pigmentation.

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Written by Huang Ling Juan
Dermatology
1min home-news-image

What should be paid attention to in daily life for albinism?

For those with albinism, it is crucial to avoid sunlight exposure, especially during strong ultraviolet radiation. It’s advisable to minimize going outdoors or use sun-protection tools such as wearing long-sleeved clothing, hats, and sunglasses to reduce direct UV damage to the eyes and skin. For patients with a syndromic type of albinism, once a genetic diagnosis is confirmed, it is essential to inform the doctor about the condition when undergoing dental extractions or major surgeries, so that preventive measures against bleeding can be prepared. Furthermore, patients with albinism must seek genetic counseling and reproductive guidance before marriage and childbirth. If skin lesions are mild in the early stages of albinism, proactive cooperation with medical staff and a diet rich in vitamins are recommended.

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Written by Huang Ling Juan
Dermatology
1min 5sec home-news-image

Does albinism have symptoms other than being white?

In addition to light skin, albinism also presents other symptoms. Individuals with albinism usually have white or yellow-white hair that is fine and soft. Their pupils appear red due to the lack of pigment in the choroid, and some might have congenital small pupils. The sclera may be transparent or appear pale red. People with albinism typically experience photophobia, tearing, frequent blinking, nystagmus (eye tremors), and astigmatism. Although most patients are healthy in other body parts, some with albinism may suffer from poor development, short stature, and intellectual disabilities. When albinism affects the eyes, it is accompanied by skin depigmentation, photophobia, and tearing. Excessive exposure to ultraviolet rays can lead to conditions like solar dermatitis, actinic cheilitis (inflammation of the lips), increased wrinkling of the skin, and dilation of capillaries.

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Written by Du Rui Xia
Obstetrics
45sec home-news-image

Can albinism be detected during pregnancy?

Prenatal genetic testing during pregnancy can be used to diagnose albinism. The incidence of albinism is very low, making it a rare disease clinically, yet it is not included in routine prenatal screening programs. If there are family members with albinism, especially couples who have already had children with the condition, prenatal testing and genetic counseling are necessary. Prenatal genetic testing can identify the specific gene mutation sites within the family. Furthermore, it allows for the use of third-generation IVF techniques to select embryos without the paternal or maternal gene mutations, which can then be implanted in the mother's body to prevent the birth of another child with albinism.