What do these 4 genetic disorders mean?

How many times have you heard the phrase “It is in my genes” and wondered what exactly is the meaning of that. All humans are represented by a distinct sequence of nucleotides forming part of a chromosome and each one of us has 23 pairs of chromosomes. Now, when genes that contain DNA of a harmful mutation, resulting in Genetic Disorders. Most Genetic disorders formed are categorized under 3 umbrella types namely : 

• Chromosomal
• Multifactorial
• Monogenic

 

Most commonly known genetic disorders with progression of age found in humans are : 

• Alzheimer’s disease :  It is a gradual lessening in memory, thinking, behavior and social skills. In scientific terms, Alzheimer’s happens when there is an abnormal buildup of protein around the brain cells. As the buildup progresses, neurotransmitters or messengers of brain signals tend to perform weakly causing a person to forget about recent conversations, forget names, act confused and exhibit poor judgment.
• Autism : ASD or Autism Spectrum Disorder is a developmental disorder in which a person may have troubles with social interaction, communication, public speaking, learning, etc.
• Down syndrome : Babies are born with 46 chromosomes however, with Down syndrome they have an extra copy of one of these chromosomes which leads to developmental disorder. Children with Down Syndrome usually have a slower pace of talking with distinct facial features, specifically a flattened nose, small ears and a short neck. 
• Tourette Syndrome : Tourette Syndrome is a neurological disorder in which a person makes an uncontrollable tic sound and movement. There are ways to manage this disorder however there is no cure for this. Tourette syndrome can cause several problems with daily life including sleep disorder, anxiety, stress etc. 

How to detect Genetic Disorder in pregnant women

FIRST TRIMESTER SCREENING

Prenatal testing is conducted so it can be ascertained whether the fetus has certain hereditary or spontaneous abnormalities

1. A blood workup should be conducted to ascertain substances within the blood of the mother consisting of markers for whether there is a genetic disorder marker present or not.
2. Ultrasonography also helps in knowing the risk of genetic abnormalities in the fetus.
3. Additional testing may include Amniocentesis for detection of chromosomal disorders such as Down syndrome, Edwards syndrome or Patau's syndrome.
4. Chorionic Villus Sampling by sampling of tissue from placenta to test genetic abnormalities.

SECOND TRIMESTER SCREENING

Important genetic markers include : 

1. Alpha-fetoprotein is a protein produced by the fetus, increased levels of this protein can indicate spina bifida or structural defect in the spinal cord. 
2. Estriol to detect chances of Down Syndrome
3. Human chorionic gonadotropin
4. Inhibin A ; elevated markers of Inhibin A show risk factors for low birth weight in the fetus, and macrosomia. 

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