Genetic Disorders Tips

Delusional disorder refers to the condition in which an individual experiences non-bizarre delusions that are beliefs in things that aren't actually true. The delusions involve situations that take place in real life like being deceived or stalked, conspired against, etc but in actuality, these situations may be highly exaggerated or not true at all as they involve the misinterpretation of experiences or observations. This health problem tends to take place during the middle or later part of your life and is said to affect women more than men.

What are the symptoms associated with this condition?

There are certain signs that you can look out for to easily identify this condition and there are:

1. Delusional thoughts lasting one month and above
2. Lack of schizophrenia symptoms except delusions associated with the olfactory and tactile systems
3. One's behavior and normal functioning doesn't witness any kind of impairment
4. Duration of mood symptoms is short compared to the length of the delusions
5. Disorder is not brought on by the use of substances or any medical condition
6. Commencement of the disorder can vary from teenage years to later part of adulthood

What causes it to happen?
The root cause of the disorder is still not known, but experts are of the opinion that a variety of biological, genetic, environmental and psychological factors can cause it to occur. 

Some of these causes include: 

• Genetics: It's said that this disorder can be passed on from parents to children. Additionally, it's more common in individuals whose family members suffer from schizophrenia or one of its types.
• Psychological/ environmental: In addition to drug and alcohol abuse, delusional disorder can also be set off by stress.
• Biological: Abnormalities in certain parts of the brain can lead to this problem. Areas of brain associated with thinking and perception have been found to be connected to delusional symptoms.

Prenatal Diagnosis is the diagnosis of the fetus or unborn baby. By prenatal diagnosis, doctors examine the developing baby. There are two main methods for prenatal diagnosis, Chorionic Villus Sampling (CVS), and Amniocentesis. However, the prenatal diagnosis consists of several tests which help doctors to find out the genetic disorder of the fetus.

According to many studies, some parents are at higher risk of having a baby with a genetic problem or disorder. Due to this reason, it is advisable to diagnose a baby before birth so that parents can be aware of the problem and manage it efficiently. These diagnostic tests will help parents to take better decisions for the health of their baby.

Prenatal diagnosis is also necessary as there are problems which can be treated before the birth of the baby.  However, other problems need immediate attention after the delivery.

Benefits of Prenatal Diagnosis -

Prenatal Diagnosis is beneficial for:

• Managing the duration of the pregnancy

• Preparing for possible difficulties during pregnancy or with the birth process

• Determining the consequence of the difficult pregnancy

• Planning for diseases/problems/disorders that may occur in the infant

• Detecting conditions that may influence future pregnancies

• Determining whether to continue the pregnancy

Test for Prenatal Diagnosis -

• Amniocentesis

• Chorionic villus sampling

• Ultrasonography

• Maternal serum beta-HCG

• Fetal blood cells in maternal blood

• Pregnancy-associated plasma protein A

• Maternal serum unconjugated estriol

• Inhibin A

• Maternal serum alpha-fetoprotein

What is Amniocentesis? 

Amniocentesis is an invasive method and usually performed during 14 and 20 weeks of the pregnancy. In this procedure, a needle is inserted into the amniotic cavity of the uterus through the lower abdomen. Before performing Amniocentesis, an ultrasound is done to determine the gestational age, see if there is sufficient amniotic fluid present, and check the location of the placenta and fetus. With the help of injection, doctors withdraw a small amount of amniotic fluid and send it in the laboratory to test:

• Infection

• Genetic abnormalities

• Signs for lung development

Chorionic Villus Sampling (CVS) -

Chorionic Villus Sampling or CVS is one of the methods in the Prenatal diagnosis process in which a catheter is inserted into the uterus through the vagina and cervix. It is done to withdraw the placental chorionic villi cells. After that, the cells examined and analyzed by different techniques. CVS usually performed during the 9.5 to 12.5 weeks of pregnancy. Generally, the cells withdraw in CVS is for chromosome analysis to find out the karyotype of the fetus.

Techniques Used for Pathologic Examination

These are some of the techniques used in the pathology to determine the problems and issues of the fetus:

• Gross Examination

• Microscopic Examination

• Radiography

• Microbiologic Culture

• Karyotyping

• Fluorescence in Situ Hybridization (FISH)

• DNA Probes

• Flow Cytometry

• Biochemical Analysis

• Electron Microscopy (EM)

Take Away -

Prenatal diagnosis is very important as it gives an idea about the pregnancy complications and future complication that a child may suffer. This also helps in curing and treating the problems during fetal development.

Medical genetics is a branch of medicine that involves identifying the cause of human biological variation. Medical genetics help to determine the health and disease of a person which are hereditary in nature. It involves the study and counseling about the pathogenesis, etiology, and natural history of disorders and diseases that originate genetically.

Medical genetics is different from human genetics in the way that human genetics involves the research and scientific study of the genome structure that may or may not suggest medicine practice. However, medical genetics is related to the application of genetic studies to medical care.

Both human genetics and medical genetics consider the analysis of the causes and inheritance of genetic disease. However, the diagnosis, treatment, management of the genetic disease is considered only in medical genetics.

Genetic Study and Genetic Medicine -

The term genetic medicine is new in medical genetics that includes areas such as personalized medicine, gene therapy, and predictive medicine. This personalized medical care is attained by the genetic study of the individual. Medical genetics incorporates different fields such as genetic counselors, clinical physicians, and nutritionists. The clinical laboratory activities involved in the diagnosis, analysis, and research about the genetic structure help to determine the causes of genetic diseases.

Genetic Disorders Related to Medical Genetics - 

There are certain conditions generally relates to the issues or abnormalities of the genetic structure in an individual which are called genetic disorders. Some common genetic disorders that are studied within the scope of medical genetics include:

• Dysmorphology

• Birth defects

• Mental retardation

• Mitochondrial disorders

• Autism

• Skeletal dysplasia

• Cancer genetics

• Connective tissue disorders

• Prenatal diagnosis

• Teratogens

Genetic Counselling -

Medical genetics also includes a process in which information about the conditions related to genetic structure, diagnostics, and the potential threat to other members of the family. This process is called Genetic Counselling. This is performed by experts who are a non-physical member in the team of medical genetics. These experts provide a family risk assessment and counsel about potential dangers to the members of the family who has genetic disorders. They provide counseling personalized on the basis of the genetic disorder.

Take Away -

Medical Genetics is a medicinal branch that deals with the diagnosis, treatment, and of the conditions related to hereditary disorders. The hereditary disorders are generally the abnormalities in the genome structure that run in a family. Some common genetic disorders that are diagnosed and treated with the help of medical genetics are mental retardation, autism, skeletal dysplasia, cancer genetics and such others. Apart from genetic disorders, medical genetics is now becoming increasingly common in dealing with various common diseases such as endocrine, neurologic, cardiovascular, ophthalmologic, pulmonary, dermatologic, and psychiatric conditions.

Medical genetics involves the clinical diagnosis and treatment of genetic disorders. Not only the physical treatment, but medical genetics also involves the treatment of such genetic disorders by the non-physical team of medical genetics called genetic counselors.

Endometriosis is a condition in which the endometrial cells lining the inside wall of the uterus begin to grow outside the uterus. In a majority of the cases, the growth is on the ovaries, the Fallopian tubes, or the tissues around the uterus. In rare cases, it occurs in other body parts. Normally, women in the age group of 30 to 40 years are prone to developing this condition and genetics is believed to be the reason behind this disorder. It is a serious medical condition if it causes discomfort to the woman.

Signs and Symptoms:  The signs and symptoms of endometriosis include chronic pelvic pain, pain during menstruation, urination, and intercourse, longer periods, bleeding between menstrual cycle, bloody urine or stool, and urinary and bowel problems.

Treatment methods:  In many cases, endometriosis goes undiagnosed and it can only be diagnosed through sonography and blood test. If  it confirms the endometriosis, then it can be treated in the following ways:

• Hormonal treatment: Hormonal treatment includes birth control pills, placement of the intrauterine device, Gonadotropin-releasing hormone, and Danazol or Medroxyprogesterone (Depo-Provera).  
  If the symptoms are mild and patient not planning for pregnancy. Medicine include hormonal pills and depot injection as well.
• Pain medication: Pain killers with anti-inflammatory properties are prescribed to those who suffer from painful menstruation.
• Surgery: This is the last treatment option and only advised to those who did not find relief from medicines and hormonal treatment. Surgeons try to remove the areas affected by endometriosis but in severe cases, the ovaries might need to be removed completely. If the symptoms are severe and the patient is planning for pregnancy the surgical management is advised. This reduces the symptoms and also enhance the process of conceiving.

Complications: It is important to treat endometriosis on time as delay can lead to complications. The complications arising out of endometriosis include the following:

• Infertility: The scarring and distortions caused in the reproductive organs due to endometriosis and the endometriotic cysts can make a woman infertile.
• Scarring: The bleeding and the inflammation caused by endometriosis leads to scarring of the tissues of ovaries.
• Ovarian cysts: Sometimes, the abnormal growth of endometrial cells outside the uterus spreads to the ovaries and starts growing over there, leading to cysts.

Prevention: As it been mentioned before, in many cases, endometriosis goes undiagnosed but it can be prevented or its symptoms managed effectively if one is cautious. One should do the following:

• Exercise regularly: Exercise increases immunity and also reduces the level of estrogens, which slows down the progression of endometriosis. It also provides relief from pain.
• Eat nutritious diet: A diet rich in vitamin and minerals ensures good health of the reproductive organs and a fine immune system. This helps to fight the symptom of endometriosis and keeps the disorder in check.

Endometriosis is known to affect a large number of women and since the early symptoms are mild or confusing, most of the time they go undetected. Nevertheless, a woman can avoid it and the complications arising out of it by being mindful of the symptoms. They should also undergo a regular pelvic exam and follow the instructions of their gynecologist. This would ensure timely detection of the disorder and if this is ensured, the management also becomes easy.

Usually, when it comes to doing anything or trying something new, we say age doesn’t matter at all. But that is not the case with pregnancy. Pregnancy should be planned at earlier ages to keep your baby as well as the conceiving mother healthily. Although it has been observed that those women who conceive their babies at the age of 35 (or maybe even more than that), experience no difficulties but one should take precautionary steps before planning a baby so that no difficulties arise.

Increase in age can lead to an increase in the potential risks when it comes to pregnancy. Along with age, the quantity of the egg cells produced in the female body decreases along with the reduced quality of eggs. Also, the fertility of the sperm in males gets declined with age which makes the pregnancy at the later ages more difficult.

There can also be certain risks associated with 35+ pregnancies such as genetic disorders like Down syndrome occurrences increases with the increase in maternal age. Recombination irregularities also take place because due to increase in age the regulation of recombination process becomes inefficient that may lead to many chromosomal aberration or abnormalities such as a change in the number of sex chromosomes and increased chances of rearrangements of chromosomes.

Pregnancy in thirty-five plus years can increase the chance of miscarriage. One of the possible reasons could be the decline in fertility of the egg. The researchers have found that the risk of getting gestational diabetes, or the breaching position of the child. There could be an emergency delivery of the baby or postmortem hemorrhage can also occur. The baby born could have reduced birth weight or high birth weight, both can be dangerous for the health of the baby.

There are some of the prenatal tests which can be done in case of mothers who conceive at 35+ age. These tests can assist the gynaecologists to determine whether there are any complications during the pregnancy or not. Hence, gynaecologists always recommend the expecting ladies to maintain a properly balanced diet, take vitamins such as folic acid supplements, exercise on a regular basis, and refrain from taking drugs and regularly ask your doctors for prescribed medicines.

The women who are planning the pregnancy at such ages should go for regular prenatal checkups and further counselling. Also, one should take proper prenatal care for keeping your baby healthy and avoiding complications. In case you have any query then you can consult with Gynecologist in Pune for instant and right consultation

Some diseases are inherited genetically and familial polyposis is one such disease. It is a rare condition that typically affects the large intestines and the rectum. In some cases, it can also affect the upper gastrointestinal tract. People suffering from this condition develop extra tissues in the large intestine. If left untreated, it could turn cancerous at a later stage. Hence, surgery is usually recommended to remove the part of the large intestine that has been affected. In cases where it affects the duodenum and upper gastrointestinal tract, removal is usually not necessary, but the situation needs to be monitored closely.

Surgery is usually advised when the patient is in late teens or early twenties. Until then individual polyps may be removed during a routine colonoscopy exam. Surgery to remove the affected part is usually performed with minimally invasive techniques with laparoscopy being the most common. This surgery involves a few small cuts that each require only a stitch or two rather than a single long cut. This reduces the amount of time the patient must stay in the hospital after the procedure and speeds up the healing process.

There are three main types of surgeries that may be used to treat familial polyposis.

1. J pouch or Ileal pouch-anal anastomosis surgery: This is the most preferred form of surgery for this condition. It involves the removal of the colon and rectum without affecting the anus. As a result, the patient can have normal bowel movements after the surgery. It also does not have any effect on fertility.
2. Total colectomy: If you do not have any polyps in the rectum, doctors may advise a total colerecomy. This involves the removal of only the colon. The rectum and anus are left untouched. This allows the patient to have normal bowel movements after the procedure.
3. Continent ileostomy: This procedure is advised only as a last resort. In this case, the affected part of the large intestine, colon, and rectum are removed. The small intestine is then collected to a small opening in the abdomen known as a stoma. The stoma is attached to a waste bag. Instead of passing stool, all waste created is then removed from this bag.

Surgery does not cure this disease. Hence, even after the procedure, the patient will need regular follow up checks. You will need to be screened for new polyps as well as cancer and tumors. Hence, it is essential to consult a doctor you are comfortable with.

The skin has a protein called keratin that protects it from infections and other harmful toxins.  For various reasons, mostly unknown but likely genetic, there could be a buildup of this keratin leading to small, light-colored, hard bumps under the skin that can feel like sandpaper. This condition is medically known as keratosis pilaris.  These pillars of keratin block the hair follicles that open onto the surface of the skin, and when a number of follicles are blocked, it leads to dry, bumpy feeling. In common words, it is also referred to as chicken skin, chicken bumps, or goose bumps.

Occurrence

The onset is usually in the first decade of life, continues to grow in number in teenagers (80%), and slowly subsides as they grow older (40% of adults).  People with dry skin are more likely to have these bumps than people with oily skin.  The most commonly affected areas include upper arms, thighs, buttocks and very rarely on the face.

Causes

This is a genetic disorder, and the bumps are due to excessive formation and buildup of keratin due to faulty genes.  There could be surplus skin formation under these follicles or hair follicles trapped under these bumps. There could be a small area of inflammation and redness around the bumps.

Weather Correlation - Keratotis pilaris is more common and evident during the winter months when the skin is normally drier than in summer months.  Some people could have this condition lifelong, with only manifestation seen in winters and complete absence of bumps in the summer months. 

Symptoms

The condition is usually asymptomatic, except for the dryness, and does not cause itching or medical harm. The esthetic concern, especially if in upper arms, is the only concern.  Some people could be affected by the hard, bumpy feeling of the skin.  There are no long-term medical symptoms or harmful effects of this condition though.

Treatment

No treatment is required; however, moisturizers may be required to prevent the bumps from drying up. In very severe cases, creams may be used to remove dead skin cells and to prevent plugged follicles.  Alpha hydroxy acid, salicylic acid, or lactic acid containing creams can be used to remove the dead skin cells. These also help moisturize the skin and reduce dryness.  Vitamin A containing creams can be used to unplug the hair follicles.

A word of caution though - These creams can cause itching and redness.  Since this condition is prevalent in children, these creams need to be used only if absolutely essential and with medical prescriptions. The condition is harmless and self-limiting, so no treatment is mandatory.  Patient education is of utmost importance in these cases

We all have mood swings but not all mood swings have the same intensity. People who have extreme mood swings ranging from depression to manic highs are said to be suffering from bipolar disorder. These extreme moods are known as episodes and usually, last for a few days or even a few weeks. A person suffering from bipolar disorder could have an episode several times a year. This is a very common psychological problem and can affect both children and adults. Though it cannot be cured, this disease can be managed with medication.

There are no known causes for bipolar disorder but genetics may play an important role in triggering Bipolar Disorder. Hence, if a parent or sibling suffers from this condition, you have a risk of developing it as well. An imbalance in the neurotransmitters in the brain may also play a part in the development of this condition. Stress or traumatic events like the loss of a loved one can also increase your risk of suffering from this condition. Given that mood swings affect almost each one of us, bipolar disorder can be difficult to diagnose. Some of the things to look out for are:

1. Change in self-esteem
2. Unusual talkativeness or quietness
3. Being increasingly prone to distractions
4. Decreased need for sleep
5. Agitation
6. Recklessness in terms of spending decisions, relationships etc

It must be kept in mind that a person must display at least 4 of the above symptoms simultaneously to be diagnosed as bipolar. Also, none of these symptoms should be a result or side effect of any kind of medication, drugs, alcohol or other intoxicants.

There are four main types of bipolar disorder:

1. Bipolar I: In such cases, the person has at least one episode of elevated moods and associated abnormal behaviour in his or her life. This may be preceded or followed by depressive episodes.
2. Bipolar II: In these cases, the person must have suffered from at least one depressive episode. It is very similar to bipolar I except that in bipolar II the highs never reach the manic stage.
3. Rapid Cycling: Some people can have 4 or more manic and depressive episodes a year. In such cases, they are said to be rapid cycling. This condition affects 10-20% of bipolar cases.
4. Mixed Bipolar: Usually, bipolar patients show mood swings that alternate between manic and depressive moods. However, sometimes a person may experience both elation and depression simultaneously or in rapid succession of each other. These cases are known as mixed bipolar.

Once diagnosed, bipolar disorder can be managed with a combination of medication and psychotherapy. In some cases, electroconvulsive therapy may also be needed.

Schizophrenia is a disease of the mind that is usually degenerative in nature. The complex disorder is generally characterized by symptoms, such as delusions, hallucinations (both auditory and visual) and disturbances in speech and is usually chronic in nature. The symptoms are not regular and can appear at any point of time. So it is highly possible that a person suffering from schizophrenia may sometimes bear resemblance to any other normal person and all of a sudden, might exhibit symptoms typical of Schizophrenia.

The causes of Schizophrenia include:

1. Brain Dysfunction: Abnormalities in the cerebral cortex (the cerebrum’s outer covering that is vital in regulating consciousness) of the brain is the most common cause of this disorder. This is due to the presence of abnormally enlarged ventricles in that region. The decreased brain size owing to the enlarged ventricles is often related to the hallucinations and delusions experienced by schizophrenics.
2. Genetic Factors: Studies have also stated ‘genetics’ to be an important cause behind this disorder. Closer the family ties, higher the risks of transmitting the disorder.
3. Biochemical Factors: More than one neurotransmitter is being targeted by recent drugs to control schizophrenia.

Symptoms which most people do not experience normally, but are found in people diagnosed with schizophrenia are said to be positive symptoms. They are:

1. Hallucinations: These are sensory experiences of things that do not exist outside the mind. Hallucinations usually manifest in the form of auditory or visual images.
2. Delusions: Delusions on the other hand are false beliefs one has about oneself. Delusions are of 3 major types:
   • Grandeur: Wherein the person imagines himself to be a famous personality
   • Persecution: The belief that somebody somewhere is plotting against you and the whole world is going to get you.
   • Control: The belief that a larger force, let’s say a witch, a demon or even a duck for that matter is controlling your actions.

These positive symptoms generally respond well to medications.
In addition to this, schizophrenics think and speak differently than the rest of the society. They jump from idea to idea, lose track of speech mid-way and often speak in fragmented and haphazardly joined sentences. They are, in fact, unable to fix their attention on anything in particular.
Examples of the most common negative symptoms include:

1. The flat effect: The individual basically shows no facial expression and always has a flat emotionless mask on while staring into space. At times, they have inappropriate reactions to situations. Example - they might laugh at somebody's death and cry ad get angry when something good happens. 
2. Avolition: This condition occurs when the individual just sit for hours doing nothing as well as behaves in a way lacking any motivation or enthusiasm.

Chromosomal abnormality happens when a cell has too many or too few chromosomes. The most common form of chromosomal anomaly is Down’s syndrome. If a parent has a chromosomal anomaly, she/he will pass it on to the child. PGD or Pre-implantation Genetic Testing aims to select only the embryos with normal chromosomal count and only these embryos are implanted to achieve a healthy pregnancy and bring down the number of children affected with a chromosomal anomaly.

The risk of Aneuploid pregnancy:

The older a woman is when she tries to conceive (aged 35 or more), the higher the risk of Aneuploid pregnancy (carrying a baby with genetic or chromosomal abnormality). Most of these pregnancies end in miscarriages and the few that come to term produce babies with chromosomal abnormalities.

Causes of Chromosomal Abnormality:

Usually, chromosomal abnormalities occur due to an error in the cell division. Meiosis refers to the cell division, which the sperm and the egg undergo during the development procedure. Normally, meiosis breaks the chromosomal material into two equal halves, so that each of the parents contributes 23 chromosomes to the pregnancy. However, when the number of chromosomes in the cell goes up or down than the normal, it results in genetic/chromosomal anomalies.

PGD Procedure for a Chromosomal Anomaly:

If a couple elects to go for Pre-implantation Genetic Diagnosis, they have to undergo ICSI Cycle. ICSI cycle initiates a fertilization cycle to produce embryos. When the embryos reach upto day 5 and blastocyst are formed, they are biopsied and further sent to genetic lab for detecting the chromosomal abnormalities. The embryos are incubated for the entire duration of the genetic screening. Only the embryos that the genetic test clears are implanted. PGD never reveals the gender of the embryo.

PGD can help detect the single genetic disorders that may lead to the following ailments:

• Cystic fibrosis
• Muscular dystrophy
• Tay-Sachs
• Sickle cell anaemia
• Thalassemia
• Turner syndrome

PGD is a revolutionary science that can help root out incurable disorders linked to genetics. It ensures that pregnancy is sustained until term and a healthy baby is born.