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Overview

Chromosome Analysis, Amniotic Fluid Test

Chromosome Analysis, Amniotic Fluid Test

also known as: Karyotype, Amniotic Fluid

Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and foetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains foetal tissues, is sampled from the amniotic sac surrounding a developing foetus, and then the foetal DNA is examined for genetic abnormalities. Amniocentesis (or another procedure, called chorionic villus sampling (CVS)) can diagnose these problems in the womb. Amniocentesis is performed when a woman is between 14 and 16 weeks gestation.

It might be helpful to have your bladder full during the procedure to support the uterus. Drink plenty of fluids before your appointment. After 20 weeks of pregnancy, your bladder should be empty during amniocentesis to minimize the chance of puncture. Your health care provider will explain the procedure and ask you to sign a consent form before the procedure begins. Consider asking someone to accompany you to the appointment for emotional support or to drive you home afterward.

This process can be used for prenatal sex discernment and hence this procedure has legal restrictions in some countries. used in prenatal diagnosis of chromosomal abnormalities and fetal infections. In which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing foetus and the DNA is tested for genetic abnormalities. The most common reason to have an 'amnio' is to determine whether a baby has certain genetic disorders or a chromosomal abnormality, such as Down syndrome.

Please follow the instructions given by the lab in charge Amniocentesis is a prenatal test in which a small amount of amniotic fluid is removed from the sac surrounding the foetus for testing. The sample of amniotic fluid (less than one ounce) is removed through a fine needle inserted into the uterus through the abdomen, under ultrasound guidance. The Specimen removed from uterus is tested in the lab and results sent to the doctor.

LimitationsAlthough the overall culture success rate is reported as >99%, culture failure can result. Reasons include but are not limited to lack of amniocytes in the fluid, and contamination of the fluid with bacteria or yeast.
Specimen
Amniotic fluid, fetal urine, or cystic hygroma fluid
Volume
20 to 30 mL (15 to 20 mL for early amniocentesis)
Container
Sterile plastic conical tube.
Type Gender Age-Group Value
Chromosome Analysis Amniocentesis Karyotyping Amniotic Fluid
Unisex
All age groups
Depend on the type of chromosomal anomaly/ abnormality
Average price range of the test is between Rs.4600 to Rs.12000 depending on the factors of city, quality and availablity.

Table of Content

What is Chromosome Analysis, Amniotic Fluid Test?
Preparation for Chromosome Analysis, Amniotic Fluid Test
Uses of Chromosome Analysis, Amniotic Fluid Test
Procedure for Chromosome Analysis, Amniotic Fluid Test
Limitations of Chromosome Analysis, Amniotic Fluid Test
Specimen Requirements
Normal values for Chromosome Analysis, Amniotic Fluid Test
Price for Chromosome Analysis, Amniotic Fluid Test
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Popular Questions & Answers

Hi respected doctors. Want to know. I am 7 mnth pregnant. I want normal delivery. So I want information how it can possible. Coz I deliver my first baby with cesarean. N it took 4 year. Is niw possible normal delivery for me.

BHMS
Homeopath, Hooghly
Hi respected doctors. Want to know. I am 7 mnth pregnant. I want normal delivery. So I want information how it can po...
If everything goes normal your baby's position, amniotic fluid cord are well in aposition then only you can expect normal delivery. Though in our country doctor don't wants to do normal delivery. Well I can suggest one more thing there are certain homoeopathic medicine which if you can take from now on upto delivery there is every chance of normal delivery. Soo you can also contact me through Lybrate. Keep in touch with your gynaecologist.

Hiii I'm 8 month pregnant I am suffering from white discharged last month only I was take admitted for this reason know again this happen what can I do.

Diploma in Obstetrics & Gynaecology, MBBS
General Physician, Delhi
Hiii I'm 8 month pregnant I am suffering from white discharged last month only I was take admitted for this reason kn...
some white discharge is normal nearing delivery time it's important to differentiate between liquor protecting the baby in bag, amniotic fluid leakage simple difference is consistency amniotic fluid is watery other discharge is thick make sure that fluid is not infected
1 person found this helpful

Is it safe to have sex during the initial stage of pregnancy, what precautions are to b taken during this PHase.

MD-Ayurveda, Bachelor of Ayurveda, Medicine & Surgery (BAMS)
Sexologist, Haldwani
Is it safe to have sex during the initial stage of pregnancy, what precautions are to b taken during this PHase.
Hello- A baby isn't hurt when a pregnant woman and her partner make love. The amniotic sac and the strong muscles of the uterus protect the baby, and the thick mucus plug that seals the cervix helps guard against infection.

My son is born with down syndrome. He is suffer from full copy of trisomy. Full extra chromosome. What is the best way to handle the situation. And how to understand the child situation.

MBBS, FELLOWSHIP IN PAEDIATRICS
Pediatrician, Ghaziabad
My son is born with down syndrome. He is suffer from full copy of trisomy. Full extra chromosome. What is the best wa...
Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

Hello Doctor! My brother was suffering from duchenne muscular dystrophy n recently we have heard about the stem cell treatment which was increasing their lifespan which was done in Mumbai n delhi is it true sir n if it is how much would be success rate can you tell me clearly about this treatment sir. Can you opt that or not!

MBBS
PMR (Physical Medicine & Rehabilitation) Specialist, Kolkata
Hello Doctor! My brother was suffering from duchenne muscular dystrophy n recently we have heard about the stem cell ...
Duchene have no other option. It is x-linked chromosomal disease in male. No cure for this disease. Stem cell replacement therapy is still controversial and under trail mode. Difficult to say about the failure rate because no specific data is available still now.

Popular Health Tips

5 Causes Of Recurrent Pregnancy Loss!

EMDR, FRCOG (LONDON) (Fellow of Royal College of Obstetricians and Gynaecologists), MFSRH , Diploma in psychosexual therapy, Medical diploma in clinical Hypnosis, Diploma in Evidence Based Healthcare, DNB (Obstetrics and Gynecology), MD - Obstetrics & Gynaecology, MBBS
Gynaecologist, Pune
5 Causes Of Recurrent Pregnancy Loss!

Recurrent pregnancy loss refers to the situation when three consecutive pregnancy loss takes place. A pregnancy loss is a clinically defined pregnancy which ends before twenty weeks.

Causes of recurrent pregnancy loss

  1. Major cases of pregnancy loss occur due to genetic abnormalities and chromosomal abnormalities. The abnormality may occur from the sperm, egg or the early developed embryo.
  2. Recurrent pregnancy loss may occur in a woman due to ascending maternal age. This happens because of poor quality of the egg, which further leads to chromosomal abnormalities. In some cases, the pregnant mother or the father can have some gene irregularities. In such cases, the would-be-born infant is affected, and this causes pregnancy loss or miscarriage.
  3. Uterus abnormalities also lead to recurrent pregnancy loss. This may happen because of poor supply of blood to the uterus. Abnormalities in the uterus are in-born in some women and in others these may develop over time.
  4. Women having a poor immune system are likely to suffer pregnancy loss. Abnormalities in hormone secretion like thyroid or diabetes may also cause pregnancy loss in women.
  5. If a woman suffers from abnormalities in blood clotting, the chances of miscarriage are enhanced.

Testing for recurrent pregnancy loss
Several tests and examinations should be carried out for detection of pregnancy loss. 

  1. Karyotype analysis of the woman and her male partner has to be conducted. Karyotype refers to the genetic or chromosomal constituents of an individual and this test is carried out to detect abnormalities in genes and chromosomes of the parents, which cause miscarriage when passed on to the developing infant.
  2. Another test includes the evaluation of the uterus and the uterine cavity. This is done by ultrasound, saline ultrasound, MRI, hysterosalpingogram X –ray or by hysteroscopy. These tests help to get information on the uterus shape, about fibroid presence, detect abnormalities within the uterus and observe the opening and closing of the tubes. Tests to detect the functioning of hormones are also carried out.

Treatment
The treatment for women with recurrent pregnancy loss depends upon the underlying causes of the pregnancy loss.

  1. In case of patients with karyotypic abnormalities, genetic counselling is recommended, where a specialist is consulted to know about chromosomal abnormalities.
  2. Prenatal genetic studies are carried out by some couples to know about the offspring’s genetic make-up. This is done with chorionic villus sampling or with amniocentesis. A process known as in vitro fertilization (IVF) can be carried out.
  3. In case of uterine abnormalities, a surgery may be performed and medications for reducing blood clot are used if antiphospolipid syndrome is detected.

Recurrent pregnancy loss may happen due to various reasons and proper tests, and treatment procedures should be carried out for curing pregnancy loss. This phenomenon affects a woman and her partner deeply. If you wish to discuss about any specific problem, you can consult a gynaecologist.

4088 people found this helpful

Fetal Ultrasound!

MBBS, Diploma In Child Health
Pediatrician, Hyderabad
Fetal Ultrasound!

Fetal Ultrasound

What is fetal ultrasound?

Fetal ultrasound is a test used during pregnancy. It creates an image of the baby in the mother's womb (uterus). It’s a safe way to check the health of an unborn baby. During a fetal ultrasound, the baby’s heart, head, and spine are evaluated, along with other parts of the baby. The test may be done either on the mother’s abdomen (transabdominal) or in the vagina (transvaginal).

There are several types of fetal ultrasound:

  • Standard ultrasound. The test uses sound waves to create two-dimensional images on a computer screen.
  • Doppler ultrasound. This test shows the movement of blood through the umbilical cord, in the baby’s heart, or between the baby and the placenta.
  • 3-D ultrasound. This test shows a lifelike image of an unborn baby.

Ultrasound uses an electronic wand called a transducer to send and receive sound waves. No radiation is used during the procedure. The transducer is moved over the abdomen, and sound waves move through the skin, muscle, bone, and fluids at different speeds. The sound waves bounce off the baby like an echo and return to the transducer. The transducer converts the sound waves into an electronic image on a computer screen.

Why might I need fetal ultrasound?

Fetal ultrasound is a routine part of prenatal care in the U.S. This is because it’s a low risk procedure that gives important information. A routine prenatal ultrasound can check for defects or other problems in the fetus. The following can be examined:

  • Abdomen and stomach
  • Arms, legs, and other body parts
  • Back of the neck
  • Head and brain
  • Heart chambers and valves
  • Kidneys
  • Placenta placement
  • Spine
  • Umbilical cord
  • Urinary bladder

A fetal ultrasound can also show:

Your healthcare provider may have other reasons to request a fetal ultrasound.

What are the risks of fetal ultrasound?

All procedures have some risks. The risks of this procedure include:

  • Mild discomfort from the transducer on the abdomen or in the vagina
  • Reaction to a latex covering for the transducer, if you have a latex allergy

In some cases, an ultrasound may appear to show a problem that is not there called false-positive. The test can also miss a problem that is there called false-negative. In some cases, additional testing may be needed after a fetal ultrasound.

Fetal ultrasound is sometimes offered in nonmedical settings. This is done as a way to give keepsake images or videos for parents. In these cases, it’s possible for untrained staff to misread the images and give parents incorrect information. Make sure to have fetal ultrasound done by trained medical staff. Talk with your healthcare provider if you have questions.

Your risks may vary depending on your general health and other factors. Ask your healthcare provider which risks apply most to you. Discuss any concerns you may have.

2 people found this helpful

Psychiatric Disorders - Can Your Genes Pass Them?

MBBS, MD Psychiatry, DPM Psychological Medicine
Psychiatrist, Kolkata
Psychiatric Disorders - Can Your Genes Pass Them?

The risk of a mental illness increases, if one or more of your family members have a mental disorder, but this increased risk doesn't guarantee that you will develop a mental illness. Not only have some mental illnesses been found to be hereditary in nature, but certain studies have found that some major mental illnesses can be traced to the same genetic variations.

Some hereditary psychiatric disorders are:

  1. Obsessive compulsive disorder: Obsessive-compulsive disorder or OCD is a disorder of the brain and behavior. A person suffering from OCD has uncontrollable, recurring thoughts and behaviors they cannot stop repeating. Ocd also causes severe anxiety in such people. In 2000, a study conducted by researchers in Washington d. C. And Baltimore concluded that having one or more ocd family member (s) may increase the chances of you developing it too. In 2010, a study tracked down possible chromosomes that may be responsible for OCD.
  2. SchizophreniaSchizophrenia is a chronic mental illness that affects and dictates how a person feels, thinks and behaves. Those suffering from schizophrenia may lose touch with reality and experience delusions, hallucinations, thought disorders and movement disorders. It has been seen that people who have an identical twin with schizophrenia are 50% more likely to develop the disorder and those who have one parent suffering from schizophrenia are 18% more likely to inherit the illness.
  3. DepressionMajor depression or clinical depression is a common though severe mood disorder. It is characterized by an episode of sadness or apathy along with other symptoms that last at least for two consecutive weeks. Those suffering from depression may feel helpless and worthless, lose all interest in daily activities or activities they used to enjoy and feel unable to take part in normal day-to-day activities. Other symptoms of depression also include sleep pattern and appetite changes, chronic fatigue, concentration or focus problems and physical discomfort. Some patients with depression may become suicidal.

In 2011, a study pinned down a specific chromosome that may trigger depression development. Research on the hereditary properties of depression within families shows that some people are more prone to develop the disorder than others. If you have a parent or sibling that suffers from depression, you might be 1.5 to 3 times more likely to develop depression than those who do not have a close family member suffering from this condition. You are also more prone to developing bipolar disorder in such a scenario. If you wish to discuss about any specific problem, you can consult a Psychiatrist.

4619 people found this helpful

What is Androgenic Alopecia?

Dermatologist
Dermatologist, Noida
What is Androgenic Alopecia?

Androgenic alopecia is a typical type of hair loss in both men and women. In men, this condition is also called as, Male Pattern Baldness. Hair is lost in an all around characterized pattern, starting above both temples. After some time, the hairline recedes to frame a characteristic "M" shape. Hair additionally thins at the crown (close to the top of the head), regularly advancing to partial or Complete Baldness.

The pattern of Hair Loss in women contrasts from male pattern baldness. In women, the hair winds up plainly more slender everywhere throughout the head, and the hairline does not recede. Androgenic Alopecia in women occasionally prompts add up to total baldness.

Androgenic alopecia in men has been, related with a many other medicinal conditions including coronary illness and growth of the prostate. Moreover, Prostate Cancer, Disorder of Insulin Resistance, (for example, diabetes and Obesity), and High Blood Pressure (hypertension) have been identified with Androgenic Alopecia. In women, this type of hair loss is, related with an expanded risk of Polycystic Ovary Syndrome (PCOS). PCOS is, portrayed by a hormonal imbalance that can prompt sporadic Menstruation, Acne, Abundance hair somewhere else on the body (Hirsutism), and Weight Gain.

Androgenic Alopecia is an incessant reason for hair loss in both men and women. This type of hair loss influences an expected 50 million men and 30 million women in the United States. Androgenic Alopecia can begin in teenage also and risk increments with age; more than 50 percent of men over age 50 have some level of hair loss. In women, hair loss is no doubt after menopause.

Causes of Androgenic Alopecia

Change in Genetics

An assortment of hereditary and natural components likely, assume a part in causing Androgenic Alopecia. In spite of the fact that scientists are contemplating risk considers that may add to this condition, a large portion of these elements stay obscure. Scientists have discovered that this type of hair loss is, identified with hormones called Androgens, especially an Androgen called Dihydrotestosterone. Androgens are critical for ordinary male sexual development before birth and during puberty. Androgens likewise have other critical functions in both males and females, for example, controlling Hair Growth and Sex Drive.

Hair Growth initiates under the skin in structures called Follicles. Each strand of hair typically develops for 2 to 6 years, goes into a resting stage for many months, and afterward drops out. The cycle begins once again when the follicle starts growing another hair. Increased levels of Androgens in hair follicles can prompt a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Moreover,

To replace strands, which are shed off there is a deferral in the growth of new hair.

In spite of the fact that Researchers speculate that several Genes play a part in Androgenic Alopecia, varieties in just a single Gene, Androgen Receptor, have been affirmed in Scientific Studies. The Androgen Receptor Gene gives directions to making a protein called an Androgen Receptor. Androgen Receptors enable the body to react fittingly to Dihydrotestosterone and different Androgens. Studies propose that varieties in the Androgen Receptor Gene prompt expanded action of Androgen Receptors in hair follicles. It stays misty, nevertheless, how these hereditary changes increment the risk of Hair Loss in Men and Women with Androgenic Alopecia.

Researchers keep on investigating the association between Androgenic Alopecia and other medical conditions, for example, Heart Disease and Prostate Cancer in men and Polycystic Ovary disorder in Women. They trust that some of these disorders might be, related with elevated Androgen Levels, which may assist to describe why they have a tendency to happen with Androgen related Hair Loss. Other hormonal, natural, and hereditary components that have not been, recognized likewise might be included.

Inheritance Pattern

The Inheritance Pattern of Androgenic Alopecia is hazy in light of the fact that numerous hereditary and natural components are probably going to be included. This condition tends to cluster in families, in any case, and having a nearby relative with patterned hair loss has all the earmark of being a risk calculate for developing the condition.

Symptom

Notwithstanding Male Pattern Baldness, Androgenic Alopecia in men has been, related with a few other therapeutic conditions including Coronary Heart Illness and augmentation of the Prostate. Moreover, Prostate Cancer, Disorders of Insulin Resistance, (for example, Diabetes and Obesity), and High Blood Pressure (Hypertension) have been identified with Androgenic Alopecia in men. In women, Androgenic Alopecia is, related with an expanded risk of Polycystic Ovary Disorder (PCOS) which is, described by a hormonal imbalance that can prompt sporadic Menstruation, Acne, Excess body hair (Hirsutism), and Weight Gain.

The Human Phenotype Ontology (HPO) gives the accompanying list of components that have been, reported in individuals with this condition. A significant part of the data in the HPO originates from Orphanet, a European uncommon disease database. On the off chance that accessible, the rundown incorporates an unpleasant gauge of how regular a component is (its recurrence). Frequencies depend on a particular study and may not be illustrative of all studies.

 

Diagnosis

Genetic Testing

What is Genetic Testing?

Genetic testing is a sort of therapeutic test that distinguishes changes in chromosomes, genes, or proteins. The consequences of a genetic test can affirm or preclude a speculated genetic condition or help decide a person’s chance of creating or passing on a genetic disorder. More than 1,000 genetic tests are at present used and more are being, developed.

Various techniques can be, utilized for Genetic Testing:

  • Molecular Genetic Tests (or Gene Tests) ponder single genes or short lengths of DNA to distinguish varieties or transformations that prompt a Genetic disorder.

  • Chromosomal Genetic Tests analyze entire chromosomes or long lengths of DNA to check whether there are expansive Genetic changes, for example, an additional copy of a chromosome, that cause a genetic condition.
  • Biochemical Genetic Tests contemplate the sum or action level of proteins; variations from the norm in either can demonstrate changes to the DNA that outcome in a Genetic Disorder.

Genetic testing is intentional. Since, testing has benefits and in addition restrictions and risks, the choice about whether to be tested is an individual and complex one. A Geneticist or Genetic Counselor can help by giving data about the advantages and disadvantages of the test and examining the social and enthusiastic parts of testing.

Treatment

Each patient is exceptional and just the Doctor can assess and decide the Best Treatment.

Surgical Treatment of Androgenic Alopecia has great restorative outcomes. The principle issue is covering the Bald area with Donor Plugs (or follicles) adequate in number to be powerful. Micrografting produces a more Natural appearance than the old method of Transplanting Plugs.

It is critical for the patients with Androgenic Alopecia to be assessed for treatable reasons for "Telogen Effluvium" (diffuse Hair Shedding, frequently beginning abruptly) like anemia or hypothyroidism, particularly in patients who had a quick advance of their illness or a sudden begin of the sickness.

Different Names of Androgenic Alopecia

Androgenic Alopecia

Female Pattern Baldness

Male Pattern Alopecia

5 people found this helpful

Human Sexuality!

MD-Dermatology, MBBS
Sexologist, Pune
Human Sexuality!

Human sexuality is involves biological, erotic, physical, emotional, social, or spiritual feelings and behaviors.

The biological and physical aspects of sexuality largely concern the human reproductive functions, including the human sexual response cycle. Physical and emotional aspects of sexuality include bonds between individuals that is expressed through profound feelings or physical manifestations of love, trust, and care.  

Sexuality also affects and is affected by cultural, political, legal, philosophical, moral, ethical, and religious aspectsInterest in sexualactivity typically increases when an individual reaches puberty. Genetic studies work on In the study of human chromosomes in human sexuality,research has shown that "ten percent of the population has chromosomal variations that do not fit  into the XX-female and XY-male set of categories"

The study of sexualityalso includes human identity within social groups, sexually transmitted infections (STIs/STDs).

Development-

Genderdifferences[edit]Seealso: Sex differences in psychology § Sexualbehaviorother aspects of humansexuality, such as sexual satisfaction, incidence of oral sex, and attitudes toward homosexuality and masturbation, show little to no observed difference between males and females 

Biological and physiological aspects-

 Human reproductive system Like other mammals, humans are primarily grouped into either the male or female sex with a small proportion (around 1%) of intersex individuals, for whom sexual classification may not be as clear.The biological aspects of humans' sexuality deal with the reproductive system, the sexual response cycle, and the factors that affect these aspects. They also deal with the influence of biological factors on other aspects of sexuality, such as organic and neurological responses,[20] heredity, hormonal issues, gender issues, and sexual dysfunction.

Brain

The hypothalamus is the most important part of the brain for sexual functioning. This is a small area at the base of the brain consisting of several groups of nerve cell bodies that receives input from the limbic system. Studies have shown that within lab animals, destruction of certain areas of the hypothalamus causes the elimination of sexual behavior.[ The hypothalamus is important because of its relationship to the pituitary gland, which lies beneath it.The pituitary gland secretes hormones that are produced in the hypothalamus and itself. The four important sexual hormones are oxytocin, prolactin, follicle-stimulating hormone, and luteinizing hormone. Oxytocin, sometimes referred to as the "love hormone, is released in both sexes during sexual intercourse when an orgasm is achieved.[ Oxytocin has been suggested as critical to the thoughts and behaviors required to maintain close relationships. The hormone is also released in women when they give birth or are breastfeeding. Both prolactin and oxytocin stimulate milk production in women ] Follicle-stimulating hormone (FSH) is responsible for ovulation in women, which acts by triggering egg maturity; in men it stimulates sperm production. Luteinizing hormone (LH)triggers ovulation, which is the release of a mature egg.

5 people found this helpful