How should pregnant women screen for albinism?

Written by Zhang Yin Xing

Obstetrics

Updated on September 19, 2024

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Prenatal screening for albinism primarily involves chromosomal testing during pregnancy. Albinism is a single-gene hereditary disease caused by a defect in a single gene. It mainly occurs in children of consanguineous marriages where both parents carry the albinism gene. This is not a routine prenatal screening; it is only conducted if there has been a case of albinism in the family. Fetal chromosomal examination generally takes place between the 16th to 24th weeks of pregnancy during amniocentesis, where fetal cells are collected to conduct genetic testing to determine if the fetus carries the albinism gene.

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Written by Huang Ling Juan

Dermatology

1min 5sec

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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

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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.

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Written by Zhang Yin Xing

Obstetrics

37sec

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How should pregnant women screen for albinism?

Prenatal screening for albinism primarily involves chromosomal testing during pregnancy. Albinism is a single-gene hereditary disease caused by a defect in a single gene. It mainly occurs in children of consanguineous marriages where both parents carry the albinism gene. This is not a routine prenatal screening; it is only conducted if there has been a case of albinism in the family. Fetal chromosomal examination generally takes place between the 16th to 24th weeks of pregnancy during amniocentesis, where fetal cells are collected to conduct genetic testing to determine if the fetus carries the albinism gene.

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Written by Yan Xin Liang

Pediatrics

50sec

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What causes albinism in infants?

Albinism in infants is caused by a deficiency or dysfunction of tyrosinase, leading to a lack of melanin or a synthesis disorder in the skin and its appendages. This inherited form of albinism results in the retina lacking pigment, with the iris and pupils appearing pale pink, and sensitivity to light. The skin, mucous membranes, hair, and other body hair are white or yellowish-white. Albinism is a familial hereditary disease, inherited as an autosomal recessive trait, often occurring in populations with a high rate of consanguineous marriages. In the genetic pedigree of albinism, both parents carry the albinism gene; carriers themselves do not show symptoms but can pass the causative gene to their children, who then manifest the disease.

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Written by Zhang Jian Bo

Dermatology

48sec

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Vitiligo is what kind of disease?

Albinism is a congenital hereditary skin disease, which primarily manifests as the pigment loss or localized, or complete depigmentation of the skin, hair, and eyes. Clinically, it can be categorized into localized albinism and generalized albinism. The onset of the disease may be significantly related to defects in certain genes, hence it has a strong genetic component. Its manifestation includes whitening of the skin and hair, as well as loss of pigment in the eyes. Due to the lack of pigment, symptoms may include photophobia, tearing, and a decrease in vision. Currently, there are no particularly effective treatments for albinism. The main approach includes avoiding light exposure and applying sunblocks and ointments to prevent the occurrence of skin tumors.