What You Need To Know About Birth Defects?

Two weeks ago, a newborn baby in Guangzhou, China, was diagnosed with a rare condition called Anophthalmia. This eye condition means this baby has little or no eye tissue and will never be able to see. His mother, Ms. Liu says, she attended every prenatal check-up during pregnancy and was not informed of any unusual results.


I am really sad and shocked on hearing this news, it’s devastated for the family to find the baby was born with eyes condition. Despite this mum attended regular antenatal checks, but Anophthalmia can’t be spotted in regular ultrasound tests during pregnancy.


What is Anophthalmia?
Anophthalmia is a birth defect where a baby is born without one or both eyes, it can occur alone, or with other birth defects, or as part of the syndrome. According to a new study, Anophthalmia occurs in 1 out of every 10,000 births.

Understanding Birth Defects
China is a country with a “high birth defects rate”. Each year, roughly 900,000 birth defects cases occur in about 5.6 percent of the newborns, constituting the second leading cause of infant deaths in China. Birth defects can be a result of infections, genetics, eating habits and certain environmental factors during pregnancy, or a combination of there factors. However, the exact causes of certain birth defects are often unknown.

For those people who want to become parents, it is increasingly important to know some birth defects during pregnancy. So I made a list of some common birth defects for parents-to-be to learn about as well as how to prevent.


Neural Tube Defects(NTD)
The neural tube is the embryonic structure that ultimately forms the?brain?and?spinal cord. It is formed in a process called neurulation, in primary and secondary neurulation processes. Neural Tube Defects is considered the result of lack of folic acid during pregnancy. Its main manifestations are anencephalus, encephalocele, meningomyelocele, spinal Bifida occulta, etc.

How to prevent?
Research studies have found that if pregnant women take 400 micrograms of folic acid every day before and during pregnancy, it can greatly lower the risk of spina bifida and other neural tube defects. Folic acid can be found widely in dark leafy greens, asparagus, broccoli, etc.

Congenital Heart Disease.png

Congenital Heart Disease(CHD)
Congenital heart disease is the most common type of birth defect. There are a number of factors that can increase the chances of a child having congenital heart disease. Like genetic conditions, maternal diabetes, alcohol, rubella, medications, etc.

How to prevent?

  1. For some pregnant women, you need to consult your GP or pharmacist before taking any medication during pregnancy. Certain medications taken during pregnancy can contribute to some congenital heart problems.
  2. For those women with diabetes, it’s important to control your blood glucose during pregnancy.
  3. It’s necessary to have a fetal Echocardiography during pregnancy if you have a family history of heart disease.


Down Syndrome(DS)
Down Syndrome, also called Trisomy 21?is?a?disorder caused by the presence of an extra 21st chromosome. The symptoms of Down syndrome vary from person to person, common signs include: different degree of mental retardation, visual and hearing impairment, and other health problems.

How to prevent?
Although the cause of DS is not clear and there’s no effective way to cure it, but it can be detected before the baby is born. There are two types of tests that can check for Down syndrome during pregnancy: a prenatal screening test, and a prenatal diagnostic test.

Congenital Hypothyroidism(CH)
Congenital Hypothyroidism, commonly known as Cretinism, is a partial or complete loss of function of the thyroid gland that affects from birth. If untreated promptly after birth, congenital hypothyroidism can lead to an intellectual disability or delayed growth.

How to prevent?
Iodine is essential for healthy brain development in the fetus and young child. For those women during pregnancy and lactation, adding amounts of iodine to table salt can help to reduce the risk of congenital hypothyroidism.


Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.

How to prevent?

  • Premarital check-up—It’s important for brides&groom to undergo thalassemia tests before marriage.
  • Prenatal check-up—If both parents are carrier, you need to have a test called Chorionic villus sampling(CVS) that involves obtaining some cells from the placenta for testing. This is done after the 12th week of pregnancy.

More information: What You Need To Know About Birth Defects?


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