Birth defects mean many serious problems for all concerned—a fetus with complications—Part-1
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Birth defects mean many serious problems for all concerned—a fetus with complications—Part-1

Birth defects

The structural and functional deviations occurring at the time of birth, ultimately causing IDD (intellectual & developmental disability), physical disability along with other health problems, are known as birth defects. Some of the problems, if not taken care of or not detected or treated for any given reason at the early stage may be fatal.

How many types of birth defects are there?

Different researches have found out various types of birth defects. As per the findings of CDC, leading causes of infant deaths (within 1st year) in the USA are birth defects.  However, only 2 types of birth defects have been categorized in a broader sense.

The 2 types of birth defects are 1) structural birth defect and 2) Developmental or functional birth defects:

1) structural birth defect

If a baby is born with abnormal body parts or abnormal structure, the case is considered as structural birth defects. This type of birth defects can include:

· Abnormal limbs of many types, just like a clubfoot

· Cleft palate or cleft lip

· Heart defects like misshaped or missing valves

· Neural tube defects, the example can be spina bifida and many such defects which can deter the growth & development off the baby’s spinal cord and brain.

2) Developmental or functional birth defects

Developmental and functional birth defects are linked with the functions of the body systems or the body parts of the baby. Due to these problems, the baby will have developmental and intellectual disability. The IDD or intellectual & developmental disability include:

Ø Brain or nervous system problem: The baby’s problems may include IDDs, speech or language difficulties, behavioural disorders, movement trouble and seizures. If the nervous systems of the baby is affected, problems like Down syndrome, Fragile X syndrome and Prader-Willi syndrome etc. will be the cases

Ø Metabolic disorder: Due to this birth problem, the baby will have some types of chemical reactions.

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The examples are: the baby may not have automatic system of flushing out harmful chemicals or waste materials. The commonly known 2 types of metabolic disorders are 1) phenylketonuria and 2) hypothyroidism.

Ø Sensory problems: Due to this problem the baby may have visual or hearing problem, resulting to blindness or deafness.

Ø Degenerative disorder: This problem may not be apparent at the time of birth, but with the progression of age, different aspects of body functions may go to worsening positions. The examples of degenerative disorders are X-linked adrenoleuko dystrophy and muscular dystrophy. These problems are linked with adrenal glands and nervous systems. Some of the cases of birth defects are caused by many factors; some of them are combined factors. Many of the recognised birth defects do permanent harms to processes or the parts of the body, which ultimately impair the structural and so functional problems.

Recent researches on nature and causes of birth defects

Recent research conducted by NICHD in the year 2016 has found out different causes of birth defects. They are:

Ø Osteogenesis Imperfecta is abbreviated as OI. The problem is a genetic disorder. The characteristic of the problem is the fragile bone that gets easily brokenThese genetic materials are the same genetic materials which the feutus is carrying. The collected cells are grown in a laboratory for examining their genetic material for finding the problem there-in. In case the amniocentesis elements are detected in the fluid that contains womb-cells, the problems are diagnosed as some types of muscular dystrophy and Down syndrome.

Associated problem from amniocentesis: Feutus with this problem become the victims of miscarriage for at least .5 per cent of the cases. These types of tests are done only for those cases with-which genetic disorders or such types of other problems are found to be high.

2) CVS (Chorionic Villus Sampling): Same process of fluid extraction like Amniocentesis is followed from the womb, but exclusively from the cells of chorionic villi. These are the tissues in the placenta, which is the nourishing organ of the fetus. The genetic materials found from the cells of chorionic villi are just similar to the fetus cells.

CVS is also tested for knowing about the chromosomal disorders, which can lead to different genetic problems that includes Down Syndromes.


Differences between these two tests:

Amniocentesis tests are done later than CVS tests. That means CVS tests are done in earlier stage. But CVS tests are more prone to miscarriages, if compared with Amniocentesis tests. In Amniocentesis tests only .5 per cent cases of miscarriages are reported while CVS tests related miscarriages are reported to have 1 per cent of miscarriages. If the doctors detect high risks of birth defects then only they go for CVS tests.

Birth defect related Treatments

Due to the various types of birth defects, the treatments there-in are also different. Treatments may be anything among therapies, medications, surgeries and assistive devices.

Example:  MOMS (Myelomeningocele Study) cases’ management required surgical procedure on the fetus for correcting a serious type of spina bifida when the feutus was very much in the womb. The surgery is fully risky. However the surgeries did bring down the health complications for the infants, who were still in the uterus.


The approaches of gene therapy replace a missing or mutated gene with a normal gene after through investigations and confirmation of genetic disorders being carried by the feutus. The cases of gene therapy which have been experimentally treated have been found to be successful in correcting the immune system related disorders also (related to eyes and muscles).

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