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Birth Defects: Causes, Diagnosis, and Prevention

Last Updated: Jun 19, 2019

What are Birth Defects?

A birth defect or congenital anomaly is an often inherited medical condition that occurs at birth or before. It is the second leading cause for the increase in infant mortality rate next to prematurity. These are basically auxiliary changes present during childbirth that can influence practically all pieces of the body (heart, mind, foot, for instance). They can affect the appearance, function or both of the body. Inherent peculiarities can run from mellow to serious.

What are my chances of having a baby with birth defects?

Almost all babies are born healthy. Whenever a woman becomes pregnant, there is a risk that the baby has a birth defect. This possibility is around 3 to 4 babies out of 100. This means that there is a 96 to 97% chance in each pregnancy that the baby is born normally and in good health.

How do they check for birth defects during pregnancy?

Many congenital anomalies or birth defects can be diagnosed before birth with special tests like Alpha-fetoprotein, Nuchal translucency screening, Chorionic villus sampling, Amniocentesis and Ultrasound. Chromosomal irregularities, for example, Down disorder can be analyzed before birth by breaking down cells in the amniotic liquid or placenta. Fetal ultrasound in pregnancy may likewise give information about the possibility of certain inborn peculiarities, yet the ultrasound isn't 100% precise. Chromosome analysis, regardless of whether performed on a blood test or cells of the amniotic liquid or placenta, is exact.

What are the types of birth defects?

There are fundamentally six types of birth defects. These deformities are, for example, hereditary deformities like Down's Syndrome and different conditions, oral/facial imperfections like a cleft lip & sense of taste, heart contortions, musculoskeletal distortions like arm/leg abnormalities, gastric and intestinal imperfections, Eye Defect. Birth deformations of the face & mouth and Down's disorder are the most broadly perceived.


What causes birth defects?

About 20% of birth defects or intrinsic inconsistencies are brought about by hereditary or genetic components. The down disorder is a case of a condition caused by a large number of chromosomes and Turner disorder is a disorder where the mother comes up short on a specific chromosome. Furthermore, around 10% of inherent inconsistencies are caused because of natural factors, for example, contaminations, radiation and medications. These natural conditions result in death, serious birth defects. However, most of the birth deformity causes are undetectable.

How are birth defects diagnosed?

Numerous sorts of birth deformities can be analyzed during pregnancy. A medicinal services professional can use pre-birth ultrasounds to analyze certain birth absconds in utero. In addition, If the lady is at higher-chance during pregnancy, at that point screening alternatives like blood tests and amniocentesis in which a sample of the amniotic liquid is taken.

What birth defects can be detected before birth?

There are many types of congenital physical malformations, some minor and some more serious. Physical defects that can be detected before birth include a cleft lip and palate, a malformed heart, a limb with a missing part, and a spina bifida. Chromosomal abnormalities such as Down syndrome can also be diagnosed before birth by testing cells in the amniotic fluid or placenta.

What birth defects can be detected by ultrasound?

Ultrasound can detect certain types of physical birth defects. Congenital physical abnormalities that can be seen at 19 to 20 weeks of age are spina bifida, some genuine heart abandons, some kidney issues, absence of part of a limb and some cases of cleft palate.

How is the treatment done?

Birth imperfections can be treated with the following methods:

  • Congenital heart disease cure incorporates prescription to lower blood pressure and control pulse with the help of heart devices, catheter systems and medical procedure. Some serious cases may require a heart transplant as well.
  • Down syndrome is treated through early mediation programs with a group of therapists and exceptional instructors who can treat each kid in particular circumstances are useful in dealing with Down's disorder.
  • Cleft lip and cleft palate are treated with the assistance of Surgeries to reestablish normal function with insignificant scarring. Some speech therapies also help in revising talking challenges.
  • Spina Bifida's treatment also requires surgery to close the imperfection. In addition to other treatments which focuses on overseeing complications.

How do you prevent birth defects?

Not all birth deformities can be prevented. however, there are things that a lady can do previously and during pregnancy to expand her chances of having a sound child.

There are various precautionary measures to prevent birth defects, few of them are as follows:

  • Getting Vaccinations (like Chickenpox, Tdap immunization, an influenza shot)
  • Preventing Insect Bites (like Mosquito nibbles)
  • Practising Good Hygiene
  • Consulting to your specialist about sexually transmitted diseases (STDs)
  • Different contaminations can decrease any sort of risk related to a birth defect.


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Written ByDr. Rakesh Kumar Diploma in PaediatricPediatrics
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