Pregnancy is worth celebrating. The journey of bringing a new life to the world is an ensemble package of happiness, nervousness, pampering, worrying, caring, wondering, dreaming, and not forgetting the physical discomfort. With science reaching newer heights every day, some of these worries are pacified and some of these curious questions are answered. Making this beautiful natural process much more healthy, fruitful, and predictable is what science is striving for.

Its human tendency to be positive. But one must not forget to see both sides on a coin. There are multiple possibilities about pregnancy going wrong or child getting affected or a child born with genetic abnormalities, one of such abnormalities is Down syndrome.

What is Down syndrome?

Chromosomes are a threadlike structure of nucleic acids and proteins that carry information in the form of genes. They are passed down from parent to child and that’s how heredity works. They carry information that determines a child’s unique traits like eye color, height, etc. 

People normally have 46 chromosomes in each cell, i.e. 23 pairs. Each pair consisting two chromosomes, one from each parent.

Down syndrome is a chromosomal abnormality wherein an individual has 47 chromosomes in each cell instead of 46. This is caused by an error in cell division. Following are causes of Down syndrome – 

1. Trisomy 21 

It is caused when abnormal cell division development of the sperm cell or the egg cell results in an extra full or partial copy of chromosome 21. Here the child has three copies of chromosome 21, instead of the usual two copies, in all cells. In 95% of cases, Down syndrome is caused by trisomy 21.

2. Mosaic Down syndrome

Here the child has some cells with an extra copy of chromosome 21, while some cells have regular two chromosomes. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization. Mosaic Down syndrome is a rare phenomenon.

3. Translocation Down syndrome

Here a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. The child has usually two copies of chromosome 21 but also has additional genetic material from chromosome 21 attached to other chromosomes.

How does Down syndrome affect the child?

Down syndrome cannot be treated, and the child suffers from mental retardation along with few physical disabilities like Heart defects, Gastrointestinal defects, Immune disorders, Sleep apnea, Obesity, Spinal problems, Leukemia, Dementia, endocrine problems, dental problems, seizures, ear infections, hearing, vision problems, etc.

The extra chromosome changes the way of body and brain development.