Chromosomal Abnormality Screening Health Feed

First-trimester screening is a prenatal test. It is conducted to get early information about a baby's risk of certain chromosomal conditions. It can detect conditions like Down syndrome (trisomy 21) and extra sequences of chromosome 18 (Trisomy 18).

It is usually conducted in two steps:

Blood test
Followed by USG
Initially, a blood test is conducted to ascertain the levels of two pregnancy specific substances in the mother's blood. The blood is tested for pregnancy asso...more

First-trimester screening is a prenatal test. It is conducted to get early information about a baby's risk of certain chromosomal conditions. It can detect conditions like Down syndrome (trisomy 21) and extra sequences of chromosome 18 (Trisomy 18).

It is usually conducted in two steps:

Blood test
Followed by USG
Initially, a blood test is conducted to ascertain the levels of two pregnancy specific substances in the mother's blood. The blood is tested for pregnancy asso...more

First-trimester screening is a prenatal test. It is conducted to get early information about a baby's risk of certain chromosomal conditions. It can detect conditions like Down syndrome (trisomy 21) and extra sequences of chromosome 18 (Trisomy 18).

It is usually conducted in two steps:

Blood test
Followed by USG
Initially, a blood test is conducted to ascertain the levels of two pregnancy specific substances in the mother's blood. The blood is tested for pregnancy asso...more

What do you know about" triple x syndrome?

Triple x syndrome, which may also be referred to as trisomy x, is a genetic condition that mainly affects females and is caused by the presence of an extra x chromosome. Typically, females have two x chromosomes, but in this disorder, there are three x chromosomes instead of two, leading to an overabundance of genetic material.

The exact cause of this extra x chromosome is not well known or understood, but it is bel...more

I am sorry to hear about your concern but will be happy to assist you.
Most people with autosomal dominant retinitis pigmentosa have an affected parent and other family members with the disorder.
Let's connect over a call so that we can discuss your concern in details and make a suitable treatment plan for you.

Lipid myopathies (lm) are a group of muscular diseases with onset in all ages, due in most cases to enzymatic errors of lipid metabolism. Lm often, but not always, are characterized by lipid storage in muscle biopsy. Immunomodulatory/immunosuppressant drugs such as methotrexate, cyclosporine, tacrolimus, azathioprine, mycophenolate, rituximab and intravenous (ivig) or subcutaneous (subqig) immunoglobulin.
Corticosteroids such as prednisone or methylprednisolone.

Although there is no cure for rp, treatments are available for managing some aspects of its clinical manifestations. New treatments involving gene therapy, transplantation, and implanted electrical devices, are in active development.

Hi. Unfortunately there is no cure for rp as on now. All the medications or inventions are just aimed at improving the already diminished vision or improving the quality of life. For you per se genetic testing isn’t much useful now that you already have the disease.
But you should definitely get the genetic testing and counselling of your partner before marriage. Meanwhile, advise for you - 1. Vit a supplements 2. Visit an eye doctor if you experience further drop in your vision as there m...more

Hirschsprung disease is because of the absence of neurons in the rectum and colon. As you have undergone surgery ,it is better to seek the opinion of a gastroenterological surgeon.

Dear user, there is no study that shows the covid vaccine is a contraindication for g6pd deficiency. The vaccines are safe and should not have any side effects. However the strict diet and medication to be avoided have to be continues. You can consult me for more doubts regarding this online by clicking on my photo and booking an appointment however, if you found my answer helpful, please leave a positive feedback as it helps me with my practice. Thank you.

In most cases, the retinitis pigmentosa is linked to a recessive gene, a gene that must be inherited from both parents in order to cause the disease. But we have to look into the details of the problem. Let's have a detailed discussion to ensure proper treatment.

No it is not truth.
Blood group is not related to defects.
If you have faulty genes then it can cause defects.

Our endocrine glands work overtime to keep us healthy by secreting hormones which reach each and every cell in our body through the blood. These hormones evoke life-changing responses in other cells to keep us alive and healthy. Endocrine surgery is a term for an operation in any one or more endocrine glands in your body.

Types of endocrine glands-

1. Thyroid gland: This is the most important endocrine gland in your body and it secretes thyroid hormone, which regulates metabol...more