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Counseling And Genetic Testing for Familial Cancers Tips

Can You Overcome Your Genetic Risk of Heart Disease?

Dr. Pramod Kumar Sharma 93% (121 ratings)
MBBS, MS (Gen. Surgery), M.Ch - Cardio Thoracic & Vascular Surgery, DNB (CTS)
Cardiologist, Noida
Can You Overcome Your Genetic Risk of Heart Disease?

Ever wondered why you needed to share your family’s health history at a doctor’s clinic? Specific questions regarding health issues of your immediate family or close blood relatives give your doctor an insight into various health risks you might have now or in future. Those are medical conditions inherited by parents or grandparents through genes. Genes are passed from parents to children in DNA of eggs or sperms. Even a single mutation (fault) in gene can influence body systems and may lead to disorders. If any of the parents have a faulty gene, there are 50:50 chances of the child inheriting it.

Hereditary heart diseases are also a result of mutation in one or more genes and tend to run in families. Genes control almost all aspects of cardiovascular system including strengthening blood vessels, pumping capacity or communication of cells in the heart. A single genetic variation is enough to alter cardiovascular processes increasing the risk of developing a heart disease, attack or a stroke. Some of the most common hereditary cardiac disorders include; Arrhythmias, congenital heart diseases and cardiomyopathy. A family history of heart attack or stroke is also an established high-risk factor for the family members. High blood cholesterol, medically known as familial hypercholesterolemia also tends to run in families.

Unfortunately, many of these conditions cannot be prevented since they are acquired through genes. But there are many ways in which these could be managed before they become complicated or fatal.

Let’s look at some ways by which we can deal with hereditary heart diseases and increase a patient’s chances of survival:

  1. Early Diagnosis And Treatment: When one person in the family is diagnosed with a heart disease, it is strongly advisable for other family members to go in for screening. An early diagnosis can help in better treatment and management of the disease and impacts positively on patients’ life. Medical screening of siblings is highly recommended in case a person suffers a sudden cardiac death especially at a young age.

  2. Watch out for these symptoms at a young age: Abnormal heart rhythm, asthma that does not get better with inhaler, seizures that do not improve with medication, extreme fatigue or shortness of breath are warning signals and need immediate medical attention.

  3. Genetic Testing: Family members may opt for genetic testing to check if they carried genes of an inherited disorder.

  4. Genetic Counselling: Genetic counselling deals with problems like anxieties and fear of attacks, confusion over disease and emotional difficulties in accepting the situation.

We may not be able to change the family history but we can surely change our environment, lifestyle and habits. Eating healthy and following an active lifestyle does help in prevention and management of such diseases.

1736 people found this helpful

Family History of Cancer? - Opt for a Preventive Health Check

Paras Hospitals 92% (28 ratings)
Partners in Health
Multi Speciality, Gurgaon
Family History of Cancer? - Opt for a Preventive Health Check

The rising incidences of cancer have made it important for us to be vigilant about our health. It has been proven medically that if cancer is detected at an early stage -stage I & II , then the chances of cure and treatment along with full recovery are very high. For early cancer detection & for people at greater risk of cancer, PHC-Preventive Health Care plays a major role. Preventive Health Check is particularly important for the people who have a family history of cancer.

Hereditary Cancers:

Almost all cancers are caused by damage or mutation in their genes, which, may be acquired from environmental exposure, dietary factors, hormones or through normal aging. In 90% of cases, these genes are not passed from parents to children. These are known as sporadic mutations and the cancers that they cause are called as sporadic cancers. But 5-10% of cancers are caused by gene mutations which are inherited from one or both parents & passed on to the children .These are hereditary or germline mutations & these cancers are known as hereditary or familial cancers.

People /children, who carry gene mutations have a higher risk of developing cancer at an earlier age or at some point in their life time.

Some of the common such cancers, which run in families, are:

Breast, ovary & colo-rectal carcinoma have well established gene mutation studies.Mutation of BRCA 1 & BRCA2 Genes is responsible for 85% of hereditary breast cancers.

Estimated life time risk for developing breast cancer in woman with BRCA1 & BRCA2 mutation is 56-87% & risk for developing-bilateral /contralatral breast cancer is about 20-40%. These statistics make a preventive health check for women with breast cancer history in their family a necessity. Mutation in these genes confers about 20-40% increased life time risk for developing ovarian cancer. Hence the presence of gene mutation for breast cancer can trigger ovarian cancer.

However as stated above, other environmental and lifestyle factors can also cause breast cancer other than genetic BRCA1 & BRCA 2 gene mutations.

  • Increasing age
  • Early menarche
  • Late menopause
  • Nulliparity
  • First birth after the age of 30
  • Atypical lobular hyperplasia or Atypical ductal hyperplasia
  • Prior breast biopsies
  • Long term postmenopausal estiogen replacement
  • Early exposure to ionizing radiation

Other Familial Cancers:

Familial cancer syndromes associated with colo-rectal cancers are familial adenomatous polyposis (FAP).It is an autosomal dominant inherited syndrome with more than 90% penetrance, manifested by hundreds of polyps developed by late adolescence .The risk of developing invasive cancer is almost 100% .So such patients should start getting colonoscopy at an earlier age- say by 20yr of age & should undergo Total Collectomy on development of significant polyps .

Other familial cancer syndromes are hereditary non -Polyposis Colo Rectal Cancer (HNPCC), Gardner's Syndrome, Turcot's Syndrome, Peutz-Jeghers Syndrome, Juvenile Polyposis.

Cancer Assessment & Conclusion:

For breast cancer risk assessment, we have the GAIL model & IBIS model, which take into consideration ,all the risk factors, apart from BRCA1 & BRCA 2 gene mutation. These models calculate the over all life time risk of development of breast cancer for any lady. For this, you have to consult a specialist experienced in area of hereditary cancers, cancer risk assessment, genetic counseling & testing.

To conclude, all people with cancers in their family should undergo genetic testing & counseling, to detect high risk individuals should take adequate measures & treatment.

3402 people found this helpful

Schizophrenia: Can Genetics be the Reason Behind it?

DPM, MBBS
Psychiatrist, Aurangabad
Schizophrenia: Can Genetics be the Reason Behind it?

Schizophrenia is a psychiatric disorder in which a person’s mood, knowledge, thought and several other characteristics gets disturbed. We can notice most of the adults and old people with few symptoms of schizophrenia, which are most commonly left unidentified. The exact cause of schizophrenia is not yet known. The person feels that they are being constantly watched, they feel the presence of someone or something, which is not actually there. They are always suspicious and think that other people are gossiping and thinking about them.
 

Possible causes of Schizophrenia:
Though the exact cause n there are few factors, which contribute to the cause of schizophrenia.
Genetic factors: People with a family history of schizophrenia are at higher risk of getting schizophrenia.
 

Environmental factors: Environmental factors include excessive stress during pregnancy or later stages of life. Several other factors during pregnancy and childhood are responsible for causing schizophrenia. These factors are:

  • Parental loss or separation in early stages of life
  • Parental exposure to virus or during infancy
  • Childhood physical or sexual abuse
  • Abnormal brain structures and brain chemistry
  • Decreased oxygen level during delivery due to premature birth or prolonged labour
  • Sings and symptoms of schizophrenia

Hallucination: To see, feel or hear anything that really does not exist is known as hallucination.
 

Delusion: A thought or belief of a person, which is either false or impossible in reality is known as delusion.
 

Thought and speech disturbances: The thought process and speech of a schizophrenic will be disorganized, due to which he or she  will fumble or is distracted as they are unable to align their thoughts.
 

Difficulty in concentrating: It is difficult for people suffering from schizophrenia to concentrate on the task at hand.
 

Erratic behaviour: People suffering from schizophrenia tend to behave erratically, either they will be too jumpy or will be perfectly still for hours at a stretch. Most people belief that those who are suffering from schizophrenia are often violent in nature, which actually is not the case.

Treatment for schizophrenia:
Schizophrenia can be treated, if identified at an early stage. It is best advised to consult a psychiatrist the moment you spot the symptoms. Anti psychotic drugs, self help behaviour change, counselling and rehabilitation are few treatment modalities available for schizophrenia.

3 people found this helpful

Schizophrenia: Can Genetics be the Reason Behind it?

Dr. Santanu Bora 93% (179 ratings)
MBBS, MD - Psychiatry
Psychiatrist, Guwahati
Schizophrenia: Can Genetics be the Reason Behind it?

Schizophrenia is a psychiatric disorder in which a person’s mood, knowledge, thought and several other characteristics gets disturbed. We can notice most of the adults and old people with few symptoms of schizophrenia, which are most commonly left unidentified. The exact cause of schizophrenia is not yet known. The person feels that they are being constantly watched, they feel the presence of someone or something, which is not actually there. They are always suspicious and think that other people are gossiping and thinking about them.

Possible causes of Schizophrenia:
Though the exact cause of schizophrenia is not known there are few factors, which contribute to the cause of schizophrenia.

  1. Genetic factors: People with a family history of schizophrenia are at higher risk of getting schizophrenia.
  2. Environmental factors: Environmental factors include excessive stress during pregnancy or later stages of life. Several other factors during pregnancy and childhood are responsible for causing schizophrenia. These factors are:
    • Decreased oxygen level during delivery due to premature birth or prolonged labour
    • Parental loss or separation in early stages of life
    • Parental exposure to virus or during infancy
    • Childhood physical or sexual abuse
    • Abnormal brain structures and brain chemistry 
  3. Hallucination: To see, feel or hear anything that really does not exist is known as hallucination.
  4. Delusion: A thought or belief of a person, which is either false or impossible in reality is known as delusion.
  5. Thought and speech disturbances: The thought process and speech of a schizophrenic will be disorganized, due to which he or she  will fumble or is distracted as they are unable to align their thoughts.
  6. Difficulty in concentrating: It is difficult for people suffering from schizophrenia to concentrate on the task at hand.
  7. Erratic behaviour: People suffering from schizophrenia tend to behave erratically, either they will be too jumpy or will be perfectly still for hours at a stretch. Most people belief that those who are suffering from schizophrenia are often violent in nature, which actually is not the case.

Treatment for schizophrenia:

Schizophrenia can be treated, if identified at an early stage. It is best advised to consult a psychiatrist the moment you spot the symptoms. Anti psychotic drugs, self help behaviour change, counselling and rehabilitation are few treatment modalities available for schizophrenia.

2 people found this helpful

Can Genetics be the Reason Behind Schizophrenia?

Dr. Ajay Nihalani 88% (106 ratings)
Member of the Royal College of Psychiatrists, United Kingdom (MRC Psych), MD - Psychiatry, MBBS
Psychiatrist, Ghaziabad
Can Genetics be the Reason Behind Schizophrenia?

Schizophrenia is a psychiatric disorder in which a person’s mood, knowledge, thought and several other characteristics gets disturbed. We can notice most of the adults and old people with few symptoms of schizophrenia, which are most commonly left unidentified. The exact cause of schizophrenia is not yet known. The person feels that they are being constantly watched, they feel the presence of someone or something, which is not actually there. They are always suspicious and think that other people are gossiping and thinking about them.

Possible causes of Schizophrenia
Though the exact cause of schizophrenia is not known there are few factors, which contribute to the cause of schizophrenia.

  1. Genetic factors: People with a family history of schizophrenia are at higher risk of getting schizophrenia.
  2. Environmental factors: Environmental factors include excessive stress during pregnancy or later stages of life. Several other factors during pregnancy and childhood are responsible for causing schizophrenia. These factors are:

     

    1. Decreased oxygen level during delivery due to premature birth or prolonged labour
    2. Parental loss or separation in early stages of life
    3. Parental exposure to virus or during infancy
    4. Childhood physical or sexual abuse
    5. Abnormal brain structures and brain chemistry

Sings and symptoms of schizophrenia

  1. Hallucination: To see, feel or hear anything that really does not exist is known as hallucination.
  2. Delusion: A thought or belief of a person, which is either false or impossible in reality is known as delusion.
  3. Thought and speech disturbances: The thought process and speech of a schizophrenic will be disorganized, due to which he or she  will fumble or is distracted as they are unable to align their thoughts.
  4. Difficulty in concentrating: It is difficult for people suffering from schizophrenia to concentrate on the task at hand.
  5. Erratic behaviour: People suffering from schizophrenia tend to behave erratically, either they will be too jumpy or will be perfectly still for hours at a stretch. Most people belief that those who are suffering from schizophrenia are often violent in nature, which actually is not the case.

Treatment for schizophrenia
Schizophrenia can be treated, if identified at an early stage. It is best advised to consult a psychiatrist the moment you spot the symptoms. Anti psychotic drugs, self help behaviour change, counselling and rehabilitation are few treatment modalities available for schizophrenia. In case you have a concern or query you can always consult an expert & get answers to your questions!

3777 people found this helpful

Can Genetics Be The Reason Behind Schizophrenia?

Dr. Syed Saquib 92% (101 ratings)
M.B.B.S, D.P.M, M.A (Clinical Psychology)
Psychiatrist, Nagpur
Can Genetics Be The Reason Behind Schizophrenia?

Schizophrenia is a psychiatric disorder in which a person’s mood, knowledge, thought and several other characteristics gets disturbed. We can notice most of the adults and old people with few symptoms of schizophrenia, which are most commonly left unidentified. The exact cause of schizophrenia is not yet known. The person feels that they are being constantly watched, they feel the presence of someone or something, which is not actually there. They are always suspicious and think that other people are gossiping and thinking about them.

Possible causes of Schizophrenia
Though the exact cause of schizophrenia is not known there are few factors, which contribute to the cause of schizophrenia.

  1. Genetic factors: People with a family history of schizophrenia are at higher risk of getting schizophrenia.
  2. Environmental factors: Environmental factors include excessive stress during pregnancy or later stages of life. Several other factors during pregnancy and childhood are responsible for causing schizophrenia. These factors are:

    1. Decreased oxygen level during delivery due to premature birth or prolonged labour
    2. Parental loss or separation in early stages of life
    3. Parental exposure to virus or during infancy
    4. Childhood physical or sexual abuse
    5. Abnormal brain structures and brain chemistry

Sings and symptoms of schizophrenia

  1. Hallucination: To see, feel or hear anything that really does not exist is known as hallucination.
  2. Delusion: A thought or belief of a person, which is either false or impossible in reality is known as delusion.
  3. Thought and speech disturbances: The thought process and speech of a schizophrenic will be disorganized, due to which he or she  will fumble or is distracted as they are unable to align their thoughts.
  4. Difficulty in concentrating: It is difficult for people suffering from schizophrenia to concentrate on the task at hand.
  5. Erratic behaviour: People suffering from schizophrenia tend to behave erratically, either they will be too jumpy or will be perfectly still for hours at a stretch. Most people belief that those who are suffering from schizophrenia are often violent in nature, which actually is not the case.

Treatment for schizophrenia
Schizophrenia can be treated, if identified at an early stage. It is best advised to consult a psychiatrist the moment you spot the symptoms. Anti psychotic drugs, self help behaviour change, counselling and rehabilitation are few treatment modalities available for schizophrenia.

2677 people found this helpful

Schizophrenia: Can Genetics be the Reason Behind it?

Dr. Atul Aswani 85% (95 ratings)
DPM, MBBS
Psychiatrist, Mumbai
Schizophrenia: Can Genetics be the Reason Behind it?

Schizophrenia is a psychiatric disorder in which a person’s mood, knowledge, thought and several other characteristics gets disturbed. We can notice most of the adults and old people with few symptoms of schizophrenia, which are most commonly left unidentified. The exact cause of schizophrenia is not yet known. The person feels that they are being constantly watched, they feel the presence of someone or something, which is not actually there. They are always suspicious and think that other people are gossiping and thinking about them.

Possible causes of Schizophrenia
Though the exact cause of schizophrenia is not known there are few factors, which contribute to the cause of schizophrenia.

  1. Genetic factors: People with a family history of schizophrenia are at higher risk of getting schizophrenia.
  2. Environmental factors: Environmental factors include excessive stress during pregnancy or later stages of life. Several other factors during pregnancy and childhood are responsible for causing schizophrenia. These factors are:

    1. Decreased oxygen level during delivery due to premature birth or prolonged labour
    2. Parental loss or separation in early stages of life
    3. Parental exposure to virus or during infancy
    4. Childhood physical or sexual abuse
    5. Abnormal brain structures and brain chemistry

Signs and symptoms of schizophrenia

  1. Hallucination: To see, feel or hear anything that really does not exist is known as hallucination.
  2. Delusion: A thought or belief of a person, which is either false or impossible in reality is known as delusion.
  3. Thought and speech disturbances: The thought process and speech of a schizophrenic will be disorganized, due to which he or she  will fumble or is distracted as they are unable to align their thoughts.
  4. Difficulty in concentrating: It is difficult for people suffering from schizophrenia to concentrate on the task at hand.
  5. Erratic behaviour: People suffering from schizophrenia tend to behave erratically, either they will be too jumpy or will be perfectly still for hours at a stretch. Most people belief that those who are suffering from schizophrenia are often violent in nature, which actually is not the case.

Treatment for schizophrenia
Schizophrenia can be treated, if identified at an early stage. It is best advised to consult a psychiatrist the moment you spot the symptoms. Anti psychotic drugs, self help behaviour change, counselling and rehabilitation are few treatment modalities available for schizophrenia.

2469 people found this helpful

Myths And Malpractices Related To Breast Cancer

Dr. Chaitanyanand B. Koppiker 88% (44 ratings)
MBBS Bachelor of Medicine and Bachelor of Surgery, MS - General Surgery
Oncologist, Pune
Myths And Malpractices Related To Breast Cancer

Breast Cancer:

These two words are enough to instil anxiety and assumptions in the minds of many. Replete with prejudices, myths and malpractices, this disease is more feared than managed or treated. For example, how often have women wondered if wearing a bra can cause breast cancer? How often have your spouse or a loved one talked themselves out of a diagnosis, because they were shy of the procedure, and also because they thought that there was no way they could have the disease? How often have they concluded that they need to get their breasts removed knowing a close blood relative had the disease or undergo an extremely painful chemotherapy regime if they were diagnosed with breast cancer?

Wondering and presuming these things isn’t their fault- it’s because of the general lack of awareness and hence, several myths the disease brings in its wake. In this section, we answer some of the most common myths surrounding breast cancer, in detail. It is of utmost importance to make women aware of these myths since this often leads to bad practices such as avoiding proper check-ups, which ultimately culminates into the delay in diagnosis treatment breast cancer, which can prove to be fatal.

Myth: Breast cancer risk is very low.

Fact: This misconception is one of the leading causes of a late diagnosis in India. Breast cancer is the most common cancer in Indian women, and according to the National Cancer Registry Program of India, it accounts for 27% of all cancer in women, as of 2012. About 1.5 lakh new cases are diagnosed every year of which, 0.75 lakh cases succumb to the disease within the 1st five years. India has the dubious distinction of having the highest incidence-to-mortality conversion in the world attributed to lack of awareness about symptoms, late-stage detection and poor treatment outcomes. In our country, this disease occurs at a much younger, premenopausal age, that is, the average age of around 45 in India as compared to 65 in the West. Approximately 1 in 22  Indian women carries a lifetime risk of developing the disease. Also, approximately 1 in 3 breast cancers will be identified as a triple negative breast cancer which is a aggressive breast cancer and is most prevalent in Indian women, compared to the 10-15% risk in other ethnicities.

Owing to the assumption that the risk is low and that cancer occurs at a much later age group, middle-aged women at a higher risk of breast cancer shy away from diagnosis and do not get annual mammograms done. In fact, according to a study carried out in Oldham, England in 2010, only 35% of Asian women were likely to attend the routine check-up done by National Health Service of England, as opposed to 70% of non-Asian women. The reasons behind shying away from getting an annual check-up done after 40 years of age could be ignorance, financial reasons, discomfort with the check-up procedure or anxiety of the reports. Regardless, this inertia in undergoing routine medically advised check-up of the breasts can result in missing an early diagnosis which then decreases the chances of effective treatment of the disease. At our clinic, we have seen cases where breast cancer has been diagnosed at a very early stage because the women underwent annual mammograms, and thus could be easily managed and cured. It is our humble request to all the women to break their inhibitions and get an annual breast check-up done under the supervision of a breast cancer expert after the age of 40.

Myth: If a woman is diagnosed with breast cancer, her breasts will be removed (mastectomized).

Fact: If breast cancer occurs, then there is 80% chance that the breasts will not be removed. Most women will have a single cancerous lump in their breast and the breast can always be saved by a well-planned, cosmetic surgery. Breast reconstruction is done in the same procedure with the same anaesthesia, resulting in better-looking breasts and cosmetics as they can be lifted and shaped according to the patient’s desire. A questionnaire conducted by our centre reported no depression and out of 147 patients surveyed, most were very satisfied with the reconstruction outcomes (94%). Mastectomy, or breast removal surgery, is performed in few percentages of patients- may be 20%, where there are multiple tumours. Therefore, it is of utmost importance that a woman does not fear the outcome of a diagnosis and delay getting examined altogether. Such bad practice can result in an advanced-stage breast cancer, which could have been diagnosed at an early stage and treated, now being treated by mastectomy, owing to the consequent delay in treatment.   

Myth: General health check-ups are excellent for every diagnosis, including breast cancer.

Fact: This is one of the biggest and most dangerous myths. General health check-ups cannot diagnose any cancer, let alone breast cancer. Therefore it is pivotal for a woman to get a mammogram and clinical breast examination done at a specialized breast health centre, under the care of specialists and professionals. National expert panels do not recommend general health check-ups. The Canadian Task Force on the Periodic Health Examination as well as the United States Preventative Service Task Force, recommended focused health checks, as opposed to general ones, in 1979 and 1989, respectively. One review published in the Cochrane Library by Krogsbøllet al. in 2012 reported that “general health checks did not reduce morbidity or mortality, neither overall nor for cardiovascular or cancer causes”, based on the trials that they conducted. According to an article published in 2015, in which a joint analysis was undertaken by medical liability insurers (Doctors Co. and CRICO, USA), amongst the 562 malpractice claims between 2009 to 2014, 39% related to the alleged negligent treatment of patients, including misinterpretation of diagnostic studies in general health check-up schemes.

In general, it is believed that about 48% of the delayed-diagnosis cases involved radiology, with primary care physicians or other clinicians have misread or misinterpreted the radiology report. General health check-ups is also a scheme by hospitals to pick up patients for treatment, with surgeons performing open breast biopsies (i.e, a surgical procedure where a cut is made through the skin to expose and remove tissues), which is an obsolete diagnostic modality for breast cancer. In fact, in America, according to sources, a doctor doing an open breast biopsy is liable to lose his registration. The biopsies should be done after careful radiological investigation and are only minimally invasive needle biopsies. Due to such myths and malpractices, women are afraid to present themselves for diagnosis, because they fear that every lump will be removed with a surgery. The fact is that out of 100 women presented with lumps, maybe 1 or 2 actually need a surgery. 

Myth: Chemotherapy and radiation therapy should be avoided as they are extremely painful.

Fact: Both these types of therapies have been exaggerated to be ‘worse than death itself’. This is absolutely not true. Chemotherapy has improved leaps and bounds with drugs that are much easier to tolerate as they are targeted, which means that they predominantly affect the cancer cells and not the normal ones. Earlier, the known side effects of chemotherapy were nausea, vomiting, reduction of blood counts, and infections. Today with current improvements in the drugs with chemotherapy as well as antidotes against complications, chemotherapy has become extremely safe and the side effects have substantially reduced. In fact, some determined women take chemo and go to work. The only major, common side effect of chemotherapy as of today is the hair loss which is a temporary and reversible phenomenon A daycare facility is extremely proficient with the treatment, with most of the regimens needing just 5 hours or less. Many hospitals admit patients for chemotherapy, more for financial gains than an actual need for inpatient admission procedures. At our facility, chemotherapy is a procedure requiring maximum 5 hours, with loungers and personalized TVs, a counsellor and a nutritionist for free, private consultation in a spa-like ambience.

There are fewer side-effects of radiotherapy as well if done by adept radiotherapists and physicists with extremely sophisticated and state-of-the-art equipment. Both these procedures are extremely safe, with the woman not even needing hospitalization.

Myth: Wearing a bra, antiperspirants and deodorants can cause breast cancer.

Fact: It is due to the existence of these myths that the focus has been shifted from the actual risk factors to such obsolete ones. None of the aforementioned items has been shown to cause breast cancer. The real risk factors leading to breast cancer are of two types: the modifiable and the non-modifiable. The modifiable risk factors include alcohol, smoking, sedentary lifestyle, obesity, birth control pills, hormone replacement therapy, not breastfeeding and not having children or having them late. The non-modifiable ones include genetics, having a family history of breast cancer, older age, exposure to radiation, race and ethnicity, early menarche and late menopause. Most of the modifiable risk factors can be avoided if one took care of their health, diet and got sufficient exercise.

Myth: If a woman has a family history of breast cancer, she is likely to develop breast cancer as well.

Fact: While it is true that women who have a family history of breast cancer are at a higher risk of getting the disease, it is also true that most women who have breast cancer have no family history of the disease. Statistically, only 10% of the women diagnosed with breast cancer have a family history.
So what should you do if you have a family history of this disease?

That depends on your relation to that particular family member.
If you have a first-degree relative with breast cancer, that is, if your mother, sister or daughter developed breast cancer under the age of 50, you should consider some form of regular diagnostic breast imaging as well as genetic testing.

When should you consider it?

Starting ten years before the age of your relative’s diagnosis.

Having a first-degree male relative with breast cancer- however rare, but a clinically observed phenomenon also raises a woman’s risk of getting breast cancer.
If you have a second-degree relative with breast cancer, such as a grandmother or an aunt, your risk increases moderately, however, definitely not as much if you had a first-degree relative with breast cancer.
If you have multiple generations diagnosed with breast cancer on the same side of the family, or if there are several individuals who are first-degree relatives to one another or several family members diagnosed at the age of 50, you should be careful, as you have an increased probability of having a defective breast cancer-causing gene, given your breast cancer-prone family history.

In such scenarios, you should consult with a breast cancer specialist and undergo appropriate genetic testing only after prior genetic counselling of the family.

Recurrent And Late Miscarriage - Tests & Treatment For Couples!

Dr. Priyanka Singh 95% (110 ratings)
MBBS, MS - Obs and Gynae, MRCOG(London), DNB, Fellowship In Uro Gynaecology
Gynaecologist, Mumbai
Recurrent And Late Miscarriage - Tests & Treatment For Couples!

If you lose a baby before 24 weeks of pregnancy, it is called a miscarriage. If this happens in the first 3 months of pregnancy, it is known as an early miscarriage. Unfortunately, early miscarriages are common, with 10–20 in 100 (10–20%) pregnancies ending this way. Late miscarriages, after 3 months of pregnancy but before 24 weeks, are less common: 1–2 in 100 (1–2%) pregnancies end in a late miscarriage. When a miscarriage happens three or more times in a row, it is called recurrent miscarriage. Recurrent miscarriage affects 1 in 100 (1%) couples trying to have a baby.

Why does recurrent miscarriage and late miscarriage happen?

Sometimes there is a reason found for recurrent and late miscarriage. In other cases, no underlying problem can be found. Most couples are likely to have a successful pregnancy in the future, particularly if test results are normal.

There are a number of factors that may play a part in causing recurrent and late miscarriage:

  • Age, the older you are, the greater your risk of having a miscarriage. If the woman is aged over 40, more than 1 in 2 pregnancies end in a miscarriage. Miscarriages may also be more common if the father is older.
  • Antiphospholipid syndrome (APS- a syndrome that makes your blood more likely to clot) is uncommon but is a cause of recurrent miscarriage and late miscarriage.
  • Thrombophilia (an inherited condition that means that your blood may be more likely to clot) may cause recurrent miscarriage and in particular late miscarriages.
  • Genetic factors, about 2–5 in 100 couples (2–5%) with recurrent miscarriage, one partner will have an abnormality on one of their chromosomes (the genetic structures within our cells that contain our DNA and the features we inherit from our parents). Although this may not affect the parent, it can sometimes cause a miscarriage
  • Weak cervix is known to be a cause of miscarriage from 14 to 23 weeks of pregnancy. This can be difficult to diagnose when you are not pregnant. It may be suspected if in a previous pregnancy your waters broke early, or if the neck of the womb opened without any pain.
  • Developmental problems of the baby may lead to a miscarriage but are unlikely to be the cause of recurrent miscarriage.
  • Infection that makes you very unwell can cause a miscarriage. Milder infections that affect the baby can also cause a miscarriage. The role of infections in recurrent miscarriage is unclear.
  • An abnormally shaped uterus may contributes to recurrent miscarriage or late miscarriages. However, minor variations do not appear to cause miscarriage.
  • Diabetes and thyroid problems can be factors in miscarriages. They do not cause recurrent miscarriage, as long as they are treated and kept under control.
  • It has been suggested that some women miscarry because their immune system does not respond to the baby in the usual way. This is known as an alloimmune reaction. There is no clear evidence to support this theory at present. Further research is needed.

Are there any other risk factors?

Being overweight increases the risk of miscarriage. Smoking and too much caffeine may also increase the risk. Excessive alcohol is known to be harmful to a developing baby and drinking five or more units a week may increase the risk of miscarriage.

The chance of a further miscarriage increases slightly with each miscarriage. Women with three miscarriages in a row have a 4 in 10 chance of having another one. This means that 6 out of 10 women (60%) in this situation will go on to have a baby next time. 

Why are investigations helpful?

Finding out whether there is a cause for your recurrent miscarriage or late miscarriage is important as your doctor will be able to give you an idea about your likelihood of having a successful pregnancy. In a small number of cases there may be treatment available to help you.

What investigations might be offered?

Blood tests:

  • For APS- APS is diagnosed if you test positive on two occasions 12 weeks apart, before you become pregnant again.
  • For thrombophilia- If you have had a late miscarriage you should be offered blood tests for certain inherited thrombophilias.
  • To check you and your partner’s chromosomes for abnormalities. You may be offered this test if your baby has been shown to have abnormal chromosome

Tests for abnormalities in the baby You should be offered tests to check for abnormalities in your baby’s chromosomes. This is not always possible but may help to determine your chance of miscarrying again. If you have had a late miscarriage you may also be offered a postmortem examination of your baby. This will not happen without your consent and you will have the opportunity to discuss this with your health team beforehand.

Tests for abnormalities in the shape of your uterus. You should be offered a pelvic ultrasound scan to check for any abnormalities in the shape of your uterus. If an abnormality is suspected, further investigations may include a hysteroscopy (a procedure to examine the uterus through a small telescope which is passed through the vagina and cervix) or a laparoscopy (a procedure in which a surgeon uses a fine telescope to look inside the abdomen and pelvis).

 

Tests for infection. If you have had a late miscarriage, tests such as blood samples and vaginal swabs may be taken at the time to look for any source of infection.


 

What are my treatment options?

Treatment for APS

If you have APS and have had recurrent miscarriage or a late miscarriage, treatment with low-dose aspirin tablets and heparin injections in pregnancy increases your chance of having a baby. Aspirin and heparin make your blood less likely to clot and are safe to take in pregnancy.

Having APS means you are at increased risk of complications during pregnancy such as pre-eclampsia, problems with your baby’s growth and premature birth. You should be carefully monitored so that you can be offered treatment for any problems that arise.

Treatment for thrombophilia

If you have an inherited tendency to blood clotting (thrombophilia) and have had a miscarriage between 12 and 24 weeks of pregnancy, you should be offered treatment with heparin. At present there is not enough evidence to say whether heparin will reduce your chance of miscarriage if you have had early miscarriages (up to 12 weeks of pregnancy). However, you may be still offered the treatment to reduce the risk of a blood clot during pregnancy.

Your doctor will discuss what would be recommended in your particular case.

Referral for genetic counselling

If either you or your partner has a chromosome abnormality, you should be offered the chance to see a specialist called a clinical geneticist. They will discuss with you what your chances are for future pregnancies and will explain what your choices are. This is known as genetic counselling.

Monitoring and treatment for a weak cervix

If you have had a miscarriage between 14 and 24 weeks and have a diagnosis of a weak cervix, you may be offered an operation to put a stitch in your cervix. This is usually done through the vagina at 13 or 14 weeks of pregnancy under a general or spinal anaesthetic. Your doctor should discuss the surgery with you.

If it is unclear whether your late miscarriage was caused by a weak cervix, you may be offered vaginal ultrasound scans during your pregnancy to measure the length of your cervix. This may give information on how likely you are to miscarry. If your cervix is shorter than it should be before 24 weeks of pregnancy, you may be offered an operation to put a stitch in your cervix.

Surgery to the uterus

If an abnormality is found in your uterus, you may be offered an operation to correct this.

Hormone treatment

Taking progesterone or human chorionic gonadotrophin hormones early in pregnancy has been tried to prevent recurrent miscarriage. More evidence is needed to show whether this works.

Immunotherapy

Treatment to prevent or change the response of the immune system (known as immunotherapy) is not recommended for women with recurrent miscarriage. It has not been proven to work, does not improve the chances of a live birth and may carry serious risks (including transfusion reaction, allergic shock and hepatitis).

What if no cause is found?

Where there does not appear to be a cause for recurrent miscarriage or late miscarriage, there is currently no evidence that heparin and aspirin treatment reduces the chance of a further miscarriage. For that reason this treatment is not recommended in these circumstances.

What does this mean for us in the future?

You and your partner should be seen together by a specialist health professional. Your doctor will talk to you both about your particular situation and your likelihood of having a further miscarriage and a successful pregnancy. If a cause has been found, possible treatment options will be offered to you to improve your chance of a successful pregnancy.

For couples where no cause for recurrent miscarriage has been found, 75 in 100 (75%) will have a successful pregnancy with this care. It is worth remembering that the majority of couples will have a successful pregnancy the next time even after three miscarriages in a row.

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Angelina jolie effect

Dr. Rohan Khandelwal 89% (208 ratings)
MBBS, MS - General Surgery, MRCS (Edinburgh), Fellowship In Breast Surgery, Fellowship In Onco-plastic Breast Surgery
Oncologist, Gurgaon
Angelina jolie effect
Angelina jolie effect

Angelina jolie's revelation for her family history of cancer and brca mutations has really benefitted genetic labs, who are getting more and more requests for brca testing from doctors and patients.

The point which everyone is missing out on is that not every patient with breast cancer requires this test. Another important thing which is being left out is the pre-test counseling, which highlights the implications of a positive and negative test.
In India, the test has to be offered judiciously because indian ladies will not readily agree for bilateral mastectomies or salpingo-oophrectomies, if the test comes positive.

It is best to consult your breast onco-surgeon or genetic counselor before ordering these tests.
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