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Dr.Niraj Mahajan
Dr.Niraj Mahajan
Dr.Niraj Mahajan


A “birth defect” is defined as a health issue, which is present in a baby during the birth time. The severity of birth defect varies from mild to severe. Some of the severe birth defects can also be life threatening, where a baby might live only for few months, or may die at a very young age. Birth defects are also known as ““congenital abnormalities or congenital anomalies.” (Congenital-present at birth). Though the cause for congenital anomaly is not known, it can also occur due to genetic and environmental factors.

The general ask parents ask when baby has birth defect is “why did this occur? This can be very daunting for parents because it is usual to pursue an answer as to why their baby is having defect. The reason can be as said it is either genetic or environmental factors, or a combination of the two. Here are some different causes of birth defects:

Inheritance: Inheritance means which is passed on to you from one of your parents such as blood type or eye color.

Chromosome abnormalities: Chromosomes are the stick-like structures present in the center of each cell i.e. nucleus that contains your genes.

Single gene defects: Genes determines your traits. A child can inherit the genes responsible for their normal traits like color of their eyes, and also disease causing genes that result in a birth defect.

Multifactorial inheritance: Multifactorial inheritance is defined as “many factors” that are involved in triggering a birth defect. In includes both genetic and environmental factors.

Teratogens are also one of the causes of birth defect. This is present in the environment and the mother might be exposed to during her pregnancy. Whatever may be the reason, be it a prescribed medication, alcohol use, or a disorder that the mother has, that can increase the chance for baby to be born with a defect. Though few birth defects can be treated example, cleft palate or lip, and few heart defects, but some are non-treatable conditions like mental retardation.

The birth defects can be diagnosed before birth with specific tests. There are chromosomal abnormalities like Down syndrome which can be diagnosed before birth by examining cells in the amniotic fluid or through placenta. Fetal ultrasound during pregnancy gives information about the likelihood of certain birth defects, but then again ultrasound is not 100% correct, since some babies with birth defects might look without problems. On the other hand, a chromosome analysis, which is performed on either a blood sample or cells from the amniotic fluid or placenta, is about 99.9 % accurate. Sometimes, birth defects cannot be diagnosed till physical examination of the baby is done after birth. To confirm the same, a small blood sample along with the chromosomes can be examined. This information is very much important in defining the risk for that birth defect in future pregnancies.

Research for the prevention of birth defect is still ongoing to find and treat the exact causes of many birth defects. The immunizations such as rubella against infections should be given to the mother to prevent infection. In recent years, it has been discovered that there is a link between the lack of the B-

vitamin folic acid and the development of neural tube defects like spina bifida. For this, taking a vitamin supplements, folic acid before conception and during early pregnancy can help prevent many severe defects.

"Authored By Dr.Niraj Mahajan"

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Dr. Niraj Mahajan

MD- Gynecologist, Laparoscopic Surgeon, Uro-gynecologist , Infertility specialist & Cosmetic Gynecologist.

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