Month: November 2018

Advanced maternal age: precautions and risks involved

As it is said, ‘You never understand life until it grows inside you’, so is your pregnancy. With the recent trend towards a focus in your career, there has been a steady increase in the age when you plan your pregnancy. The doctor labels you in the advanced maternal age group and you start worrying about the problems which you may encounter during this phase of your life.
The past three decades have seen significant increase in maternal age at childbirth. There is no clear cut definition of advanced maternal age. Some studies say the risks increases when the women is more than 40 years of age and others state that it is more than 35 years of age. We take the cut off of to 35 years to suggest as advanced maternal age.
Advanced maternal age is associated with a wide range of adverse pregnancy outcomes including low birth weight, pre-term birth, stillbirth, unexplained fetal death and increased rates of Caesarean section
Even the chance of chromosomal abnormalities and congenital abnormalities increases with advancing maternal age.
Fortunately, there are ways to deliver a healthy baby and have a happy going pregnancy with the following steps:
1. Preconception counseling
In India, it is a common scenario that most of the women come and visit the doctor after pregnancy and that too not in the first trimester. It is important to visit the doctor because they can provide you the answers regarding the risks involved in accordance with your advanced maternal age, what precautions to take and what to start taking prior to the pregnancy and in your pregnancy. What are the risks of genetic disorders etc. If you plan to come in pregnancy it should be in collaboration with your obstetrician and a clinical geneticist. The obstetric part can be taken care by you and your obstetrician. It is important for you to keep monitoring your fetal movements and give proper history to your obstetrician regarding hypertension, diabetes, previous pregnancy complicated by growth restriction or preterm birth. If you have any of them in your current pregnancy it is important to take a medical advice for these conditions to have a healthy baby.
For the chromosomal abnormalities, you need to visit us because we can be a one stop solution to your queries. Chromosomal abnormalities are important to be screened for because they are the ones associated with mental sub normality in the baby for which there is no permanent cure. But there is no need to worry because we can provide you the answer with screening test in pregnancy by double marker/quadruple test and genetic sonogram. These help in predicting the risk and tells you the need of undergoing invasive testing directly or after these investigations.

So if you are more than 35 years of age and planning a pregnancy, you do not need to worry at all. We can help you out in your journey through pregnancy and help you have a healthy baby.
Feel free to email to us or visit our website: www.primegenetics.in, monibhatia@primegenetics.in or call on 08222044022

What is Down syndrome? How to prevent mental retardation in your family

Down syndrome is one of the most important cause of intellectual disability. It is a condition in which the patients have a problem with their chromosomes. Chromosomes are an important part of the nucleus which decide upon the way we are. Persons with Down syndrome have an extra copy of chromosome 21. This causes their problems and makes them look a little different than people without Down syndrome.

It can cause learning difficulty, medical diseases affecting various organs like heart, blood, stomach, and other organs. The severity of these problems vary from individual to individual. There are few questions which may arise in your mind and we have the answers to them.

1. Is there a test for Down syndrome in pregnancy?

Yes. Pregnant women can choose to test their baby for Down syndrome before the baby is born. There are different tests available in pregnancy and these depend upon your gestation in pregnancy. Your doctor will decide which test to offer.

2. Do all women have a screening test for Down syndrome?

It is advisable to get the screening test done. The doctor should tell you the implications of the screening test prior to getting it done because you are the best person to decide for your baby. In fact, the baby is growing inside you and you are the best judge for your baby.

3. Are different screening tests available?

Yes. There are different screening tests available and they depend upon your pregnancy status. They include some blood tests and ultrasounds.

4. Why might I choose to have a screening test?

You should plan to get the test done if

a. You want to know maximum of your baby’s health prior to pregnancy and minimize your worries.

b. You want to know if your baby has Down syndrome so that you can either plan to take care of the baby after birth or plan to end the pregnancy depending upon individual to individual.

5. What are the reasons for not choosing the test?

a. You may feel that whatever baby is born is fine with me and all depends on the will of the God. Let’s see after the baby is born.

b. You are not ready to get the confirmatory test even if your screening test is positive

c. If you want 100% answer for Down syndrome, you may directly opt for diagnostic test rather than screening test.

6. What if my screening test shows that there is a high chance my baby has Down syndrome?

If your screening test shows that there is a high chance your baby has Down syndrome, you should have a diagnostic test to know for sure if your baby has Down syndrome. There is no role of repeating the screening test as it will cause undue anxiety to you.

7. What problems can be caused by Down syndrome?

Babies with Down syndrome can take longer to learn how to sit, walk, and talk. They may have behavioural problems. Moreover, once the baby with Down syndrome is born, there is no permanent cure for mental subnormality. These patients can also have other medical problems involving different organs like heart, blood stomach, vision and thyroid

8. How do I know what is the right choice for me?

It can be tough to know what is best for you. To help you choose, talk with your doctor or nurse about the benefits and downsides of the different tests.

So if you are planning your pregnancy or are pregnant, do visit us so that we can help you in pregnancy for you to have a healthy baby.

Feel free to write to us at monibhatia@primegenetics.in and visit our website www.primegenetics.in

Are you missing the need of genetic testing: A major determinant for you and your family health

Genetics is often a poorly understood concept. We need to understand this concept because genetic disorders often run in families and can have impact on you and your family. So, you need to be aware of the same. Genetic test is required based on the individual disease. The results have health implications not only for the patient but for the entire family. If the family member has the same genetic variant, then there are various ways in which we can think of preventing the disease in the unaffected person. But before genetic testing, we need to understand who needs genetic testing and when you should consult a genetic specialist. We have a list of conditions when you need genetic counseling and testing:

ü One or more members in the family has mental retardation, developmental disability, an inherited disorder, or a birth defect.

ü One or more members with early deaths due to known or unknown medical conditions.

ü One or more members with adult-onset health conditions such as cardiovascular disease, dementia, or cancer, particularly if onset is early in adulthood

ü Women who have experienced multiple pregnancy losses or babies who died in infancy

ü People concerned that their jobs, lifestyles, or medical history may pose a risk to the outcome of a pregnancy.Common causes of concern include exposure to radiation, medications, illegal drugs, chemicals, or infections

ü Couples who are first cousins or other close blood relatives

ü Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects

ü Unexplained short stature in the family

ü Any history of neuromuscular weakness, tightness in limbs, looseness of body, seizures.

ü Skin disorder like albinism, epidermolysis bullosa, ichthyosis

ü Any history of lethargy, refusal to feed, recurrent vomiting in the child unexplained after routine work up

ü Any history of loss of milestones in the child

ü Any child with autism, developmental delay

Apart from that there are many more conditions which need evaluation by a geneticist. So, if you or any of your family member have any of the above mentioned condition, please feel free to write to us on our email: monibhatia@primegenetics.in and visit our website: www.primegenetics.in

Breast and ovarian cancer: What is genetic testing, an underused and unrecognized concept

Breast and ovarian cancer is one of the important cancer in women. Many patients undergo mastectomies without any genetic testing and counseling. Genetic testing is to know the underlying cause behind the cancer and it can have implications for you and your family. Nowadays, patients are willing to get every bit of information for themselves to improve the outcome and it is not the cost which is hampering the patients from getting themselves tested because the cost has dramatically come down. It is still an unrecognized and a misunderstood concept. It is an unrecognized concept because of the lack of awareness. It is a misunderstood concept because even if the patients get tested, they do not understand the implications of the same that they are actually at high risk of additional breast and ovarian cancers. Moreover, their family is at risk. It is the responsibility of the geneticist to explain the concept to the patients what impact can be by doing the genetic testing with the test interpretation. We bring forth few important points for you to understand about genetic testing in breast and ovarian cancer.

What is genetic testing? Genetic testing is a simple blood test by which the geneticist find out if you carry certain genetic change. Genes are present in your body’s cells. They tell your cells how to make different proteins, and they give your body instructions about how you should look and how your body should work. Sometimes, genes can have some mistakes which are known as mutations, that change the way your body makes proteins. These changes put you to the risk of having some disease. There are various genetic tests to look for different mistakes that predispose you to different kind of diseases. It is the testing and its interpretation which tells you your risk estimate.

Which genes affect a person’s risk of breast and ovarian cancer? There are a number of genes that can cause these cancers but the 2 important genes are BRCA1 and BRCA2. If there is some change present in these genes, then there is a high chance of having the cancer. These genes are passed down the generations. So they run in the families. If the abnormal copy of that gene is present in any of the family member, then there is a high chance of having the cancer for that family member as well.

Should I have a genetic test for breast and ovarian cancer? Testing is recommended only if there is a strong family history of cancer in your family members. The doctor should take proper history like how many relatives have the cancer, which cancer, at what age, what was the histopathological diagnosis. It is important to understand here that even if you have a strong family history, it doesn’t mean that you have the abnormal gene. The testing of the affected is required before offering the test to the unaffected. Also it is important to understand that even if the abnormal copy is present in you, it doesn’t mean that there is 100% chance that you will have cancer.

What if I test positive for BRCA1 or BRCA2? — If you test positive, try to stay calm. Finding out you carry a mutation can be scary. But there are ways to lower the chances that you will get or die from cancer. And remember, not everyone with a mutation gets cancer. So don’t worry. Remember that your main purpose of getting the testing was to increase the chance of survival.

How can I lower the chances that I will get cancer? — If you have a BRCA mutation, you can lower your chances of getting breast or ovarian cancer by: getting screening tests done so that it is detected early, getting surgery done to prevent it from happening, take medicines that help prevent cancer.

What should I do before I get tested?

It is important to consult some expert in the field of genetics to guide you regarding testing, whether it is really indicated, what is the cost associated with the test, interpretation of the test results and counseling for you and your family members. It is important to interpret the results with caution because the results are not always clear cut.

If you have someone in your family with breast or ovarian cancer or if multiple family members have different cancers and you want to know more about it please feel free to write to us at monibhatia@primegenetics.in and visit our website:www.primegenetics.in