Tag Archives: Down syndrome

Crouzon syndrome

Alternative Name :Branchial arch syndrome.

Definition:-
Crouzon syndrome is a genetic disorder of Chromosome 10.  Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.

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This syndrome is named after Octave Crouzon, a French physician who first described this disorder. He noted the affected patients were a mother and her daughter, implying a genetic basis. First called “craniofacial dysostosis”, the disorder was characterized by a number of clinical features. This syndrome is caused by a mutation in the fibroblast growth factor receptor II, located on chromosome 10.

Breaking down the name, “craniofacial” refers to the skull and face, and “dysostosis” refers to malformation of bone.

Now known as Crouzon syndrome, the disease can be described by the rudimentary meanings of its former name. What occurs in the disease is that an infant’s skull and facial bones, while in development, fuse early or are unable to expand. Thus, normal bone growth cannot occur. Fusion of different sutures leads to different patterns of growth of the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (unilateral premature closure of lambdoid and coronal sutures), oxycephaly (fusion of coronal and lambdoidal sutures), Kleeblattschaedel (premature closure of all sutures).

In the United States it is estimated to affect 1 per 60,000 live births.It is responsible for approximately 4.8% of all cases of craniosynostosis. Crouzon syndrome affects individuals of all ethnic backgrounds. It may be inherited or it may occur spontaneously.

Incidence of Crouzon syndrome is currently estimated to occur in 1 out of every 25,000 people out of the general population. There is a greater frequency in families with a history of the disorder, but that doesn’t mean that everyone in the family is affected (as referred to above).

Symptoms:-
Crouzon syndrome is usually diagnosed in infancy because of its particular face and skull deformities, which are:

•Early fusion of the bones of the skull (craniosynostosis), causing a misshapen head
•The skull problems may push the brain down (tonsillar herniation), and may obstruct the flow of cerebrospinal fluid (hydrocephalus)
•The nose and upper jaw appear sunken in because of poor bone growth in the face (midface hypoplasia)
•The eyes may appear to pop out (exophthalmos or proptosis) for the same reason (midface hypoplasia)


There may be other internal problems with the face and head such as narrow or absent ear canals, problems with the teeth and palate, and problems with the nose and sinuses. In some individuals with Crouzon syndrome (about 18%), two or more bones of the neck may be fused together.

Some individuals with the syndrome (about 5%) may also have a skin disorder called acanthosis nigricans, in which lesions of darkened, thickened skin are present.

Causes:
Associations with mutations in the genes of FGFR2 and FGFR3 have been identified as cause  of Crouzon syndrome. This FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.

The condition is inherited in an autosomal dominant way, so that each child of a person with Crouzon syndrome has a 50 per cent chance of inheriting the condition. However, in about half of all cases the syndrome has resulted from a new mutation (that is, neither parents were affected).

Like Apert syndrome, Crouzon syndrome may be more common among children born to older fathers.

Diagnosis:
Diagnosis of Crouzon syndrome usually can occur at birth by assessing the signs and symptoms of the baby. Further analysis, including radiographs, magnetic resonance imaging (MRI) scans, genetic testing, X-rays and CT scans can be used to confirm the diagnosis of Crouzon syndrome.

Treatment:
Like other genetic conditions, Crouzon’s cannot be ‘cured’. But with the right help and care, most children lead a relatively normal life.

Surgery is typically used to prevent the closure of sutures of the skull from damaging the brain’s development. Without surgery, blindness and mental retardation are typical outcomes. Craniofacial surgery is a discipline of plastic surgery. To move the orbits forward, plastic surgeons work with neurosurgeons to expose the skull and orbits and reshape the bone. To treat the midface deficiency, plastic surgeons can move the lower orbit and midface bones forward (this does not need neurosurgical assistance). For jaw surgery, either plastic surgeons have experience to perform these operations. It is rare to wear a custom-fitted helmet (or cranial band) for several months after surgery as that is only for single-suture “strip craniectomy” repair. Crouzon patients tend to have multiple sutures involved, most specifically bilateral coronal craniosynostoses, therefore an open operation is used rather than the strip craniectomy with helmeting.

Excessive fluid around the brain (hydrocephalus) may need to be drained by inserting a tube called a shunt. Other specialist help, for example, to treat dental, eye or ear, nose and throat problems, is often needed.

Long-term supportive treatments such as speech therapy, psychological and educational help, and genetic counselling for the family are also important in helping the child to reach their potential.

Once treated for the cranial vault symptoms, Crouzon patients generally go on to live a normal lifespan.

You may click to learn more  if you  have specific questions about Crouzon syndrome.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/crouzon2.shtml
http://en.wikipedia.org/wiki/Crouzon_syndrome
http://emedicine.medscape.com/article/942989-overview
http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm

http://emedicine.medscape.com/article/1280034-overview

http://ufacts.blogspot.com/2007/12/real-egg-head-boy.html

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Microcephaly

Definition:
Microcephaly (my-kroh-SEF-uh-lee) is a rare  neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person’s age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly.

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Sometimes detected at birth, microcephaly usually is the result of the brain developing abnormally in the womb or not growing as it should after birth.

Microcephaly can be caused by a variety of genetic and environmental factors. Children with microcephaly often have developmental issues. Generally there’s no treatment for microcephaly, but early intervention may help enhance your child’s development and improve quality of life.

Symptoms:
The primary sign of microcephaly is:

*A head size significantly smaller than that of other children of the same age and sex.

Head size is measured as the distance around the top of the child’s head (circumference). Using standardized growth charts, the measurement is compared with other children’s measurements in percentiles. Some children just have small heads, which may measure in the third, second or even first percentiles. In children with microcephaly, head size measures significantly below the first percentile.

These characteristics may accompany severe microcephaly:

*Backward sloping forehead
*Large ears
*Visual impairment


Depending on the severity of the accompanying syndrome, children with microcephaly may have:

*mental retardation,
*delayed motor functions and speech,
*facial distortions,
*dwarfism or short stature,
*hyperactivity,
*seizures,
*difficulties with coordination and balance, and
*other brain or neurological abnormalities.

Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference.


Causes:

It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. It is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes. :

Babies born with microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy.

Microcephaly usually is the result of abnormal brain development, which can occur in the womb (congenital) or in infancy. Microcephaly may be genetic. Other causes may include:

*Craniosynostosis.
The premature fusing of the joints (sutures) between the bony plates that form an infant’s skull keeps the brain from growing. Treating craniosynostosis usually means your infant needs surgery to separate the fused bones. If there’s no underlying brain abnormality, the surgery allows the brain adequate space to grow and develop.

*Chromosomal abnormalities.
Down syndrome and other conditions may result in microcephaly.

*Decreased oxygen to the fetal brain (cerebral anoxia).
Certain complications of pregnancy or delivery can impair oxygen delivery to the fetal brain.

*Infections of the fetus during pregnancy. These include toxoplasmosis, cytomegalovirus, German measles (rubella) and chickenpox (varicella).

*Exposure to drugs, alcohol or certain toxic chemicals in the womb.
Any of these put your baby at risk of brain abnormalities.

*Severe malnutrition
. Not getting adequate nutrition during pregnancy can affect your baby’s development.

*Uncontrolled phenylketonuria (fen-ul-kee-toe-NU-ree-uh), also known as PKU, in the mother. PKU is a birth defect that hampers the body’s ability to break down the amino acid phenylalanine.

Complecations & Risk Factoirs:

Some children with microcephaly will be of normal intelligence and development, even though their heads will always be small for their age and sex. But depending on the cause and severity of the microcephaly, complications may include:

*Developmental delays, such as in speech and movement
*Difficulties with coordination and balance
*Dwarfism or short stature
*Facial distortions
*Hyperactivity
*Mental retardation
*Seizures

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

Diagnosis:
To determine whether your child has microcephaly, your doctor likely will take a thorough prenatal, birth and family history and do a physical exam. He or she will measure the circumference of your child’s head, compare it with a growth chart, and remeasure and plot the growth at subsequent visits. Parents’ head sizes also may be measured to determine whether small heads run in the family.

In some cases, particularly if your child’s development is delayed, your doctor may request tests such as a head CT or MRI and blood tests to help determine the underlying cause of the delay.

Treatment :

Generally, there’s no treatment that will enlarge your child’s head or reverse complications of microcephaly.  Early childhood intervention programs that include speech, physical and occupational therapy may help your child strengthen abilities.

Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.

Certain complications of microcephaly, such as seizures or hyperactivity, may be treated with medication.

Prognosis:

Some children will only have mild disability. Others, especially if they are otherwise growing and developing normally, will have normal intelligence and continue to develop and meet regular age-appropriate milestones.

When you learn your child has microcephaly, you may experience a range of emotions, including anger, fear, worry, sorrow and guilt. You may not know what to expect, and you may worry about your child’s future. The best antidote for fear and worry is information and support. Prepare yourself:

*Find a team of trusted professionals. You’ll need to make important decisions about your child’s education and treatment. Seek a team of doctors, teachers and therapists you trust. These professionals can help evaluate the resources in your area and help explain state and federal programs for children with disabilities.

*Seek out other families who are dealing with the same issues. Your community may have support groups for parents of children with developmental disabilities. You may also find Internet support groups.

Prevention:
Learning your child has microcephaly may raise questions about future pregnancies. Work with your doctor to determine the cause of the microcephaly. If the cause is genetic, you and your spouse may want to talk to a genetic counselor about risks for future pregnancies.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.medicinenet.com/microcephaly/page2.htm
http://www.mayoclinic.com/health/microcephaly/DS01169
http://en.wikipedia.org/wiki/Microcephaly

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Your Palm Says It All

Rogue, fraud, charlatan. Words we often use to describe the roadside palmist. Can anyone say what the creases, lines and stars etched on our palms mean? Or if they do mean anything at all?
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Some people, it seems, can say much about your life by “reading” your palm.

Welcome to the world of medical palmistry, a branch of science based on documented and proven scientific observations.

A detailed examination of the palm does provide valuable clues to a person’s medical history, lifestyle, diseases and life expectancy. Palms and fingers have characteristic creases, whorls, arches and loops. These are unique in each individual and never identical, even in twins. One of the oldest biometric methods of establishing positive identity is by using fingerprints.

“Palmar creases” form in an unborn baby as it holds its hands tightly clenched during the 12th week. Normally this forms three palmar creases or lines. Any physical, medical or drug-induced injury to the foetus during the first three months is reflected permanently as abnormal palmar creases. This can be picked up on ultrasound examination after the 12th week. If the creases are abnormal, the foetus should be closely monitored for associated abnormalities in the kidney, heart and other organ

Sometimes the upper two lines fuse to form a single palmar crease or simian line that stretches across the open palm. A single palmar crease can be present in one out of 30 apparently normal people. It is more common in males and is usually present only on one hand. One or both parents of these children may have the abnormal crease on one hand. This is a minor aberration and warrants monitoring as these children may reveal mild abnormalities in other organs in later life. It is also associated with certain chromosomal anomalies, the most common of which is Down’s Syndrome (Trisomy 21).

Not all abnormal palmar creases are hereditary or genetic. Alcoholic women who continue to drink during pregnancy can produce children with “foetal alcohol syndrome” and a single palmar crease.

People with mental illnesses have more open loops and fewer whorls on their finger tips. Those prone to chronic diseases like leprosy and tuberculosis also tend to have only two lines on the palm, with the abnormal line just above the thumb.

Normally, a person has 10 fingers and toes. In one in 1,000 births, there may be extra digits, separate, complete, incomplete or fused. These defects can be associated with other internal congenital malformations, and so a detailed examination must be done for any affected newborn.

Marfans syndrome is a genetic disorder in which the person has “arachnodactyly” or abnormally long fingers like spider legs. This can be diagnosed before birth through ultrasound.

Congenital hypothyroidism, certain renal diseases and some forms of dwarfism are linked with a “tripartiate” hand — where the index, middle and ring fingers are the same length.

Cigarette smokers, people suffering from chronic respiratory ailments, and those with congenital heart disease may have blue nails. Some lung diseases like bronchiectasis, and chronic intestinal diseases may bend the nail like a convex parrot beak, a condition called “clubbing”. Jaundice causes the skin of the palms to turn yellow. Carotenemia produces a similar appearance. It is a harmless condition and is caused by an excess consumption of yellow carotene containing fruits and vegetables.

Hormone levels in the uterus also influences finger length. A person (irrespective of sex) with the index finger shorter than the ring finger will have had more testosterone (male hormone) while in the womb, and a person with an index finger longer than the ring finger will have had more eostrogen (female hormone). Professional women, especially women scientists, tend to have higher levels of testosterone vis-a-vis their oestrogen level, making their brains closer to those of men in general. The converse is true with men working in the fine arts and social sciences.

The position in which we hold our palms is a reflection of the body mass index or BMI (weight in kilogram divided by height in metre squared). A BMI more than 30 is diagnostic of obesity. Such people tend to hold their hands with the thumbs facing backwards as they stand. Overweight people with a BMI between 25 and 30 hold their arms with the thumb facing sideways. People of normal weight with a BMI between 20 and 25 stand with their palms facing forwards.

So, remember, your palms will reveal a lot about your health, but only if you go to a medical palmist.


Source:
The Telegraph (Kolkata, India)

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Enhanced Alpha Fetoprotein Test (“Triple Screen”)

Definition:This is a  blood test that measures the levels of alpha-fetoprotein (AFP), a protein released by the fetal liver and found in the mother’s blood. AFP is sometimes called MSAFP (maternal serum AFP )  This blood test for pregnant women, also called a “triple screen,” checks the levels of protein and hormones being produced by the fetus. The levels of three different substances together can enable doctors to identify pregnancies that are at a higher risk for birth defects such as Down syndrome or neural tube defects (brain and spinal cord problems). If the blood test suggests problems, your doctor might recommend additional tests, such as amniocentesis or fetal ultrasound, to confirm the findings.
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The alpha-fetoprotein (AFP) test is available to women between their 15th and 20th week of pregnancy to screen for fetal abnormalities. This simple blood test measures the level of a protein called alpha-fetoprotein which is secreted by the liver of the fetus and enters the mother’s blood stream. Elevated levels of AFP may indicate an increased risk of neural tube defects such as spina bifida or anencephaly, while low levels suggest Down Syndrome or other chromosomal defects.

The AFP test does not determine the existence of these genetic disorders; it only predicts their likelihood. And while the AFP test is most often used to screen for these defects, it can also be used to identify abdominal wall defects, some renal and urinary tract abnormalities, Turner syndrome, low birth weight, and placental complications. An incorrectly-calculated gestational age and multiple fetuses can also cause abnormal AFP levels.


How do you prepare for the test?

* Before having this test done, you need to think carefully about what you would do with the results once you have them. The results of this blood test cannot show for sure whether you have either a healthy fetus or one with a problem; it can only suggest which patients might want to go ahead with further testing. Because amniocentesis (the test that is usually recommended after an abnormal triple screen) has a small risk of miscarriage, and because most people with an abnormal triple screen decide to go ahead with amniocentesis, this is an important decision. You should have this test done only if you think the information it offers would help you to make decisions about your pregnancy.

What happens when the test is performed?

* Your blood is drawn for this test sometime between your 15th and 20th weeks of pregnancy. The blood is tested for three protein and hormone levels: maternal serum alpha fetoprotein (MSAFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG). Your doctor needs to weigh you on the day you have your blood drawn and ask when your last period began or what your expected due date is. The analysis of the results will take into account your weight and stage of pregnancy to determine whether the levels are normal.

What risks are there from the test?

* There are no risks from this test itself, but there are some risks from tests that might be recommended if the test result comes back abnormal (see-> “Amniocentesis,” ). This test can be stressful for expectant parents. Several things can cause the test to come back as abnormal even when there are no real health problems. Confusing results can happen, for example, in twin pregnancies and when mistakes have been made in estimating the age of the pregnancy.

How long is it before the result of the test is known?
The test results are available to your doctor within two or three days.

For more information You may click to see:->

Health informations for pregnant women:
Pregnancy & Childbirth :
Integrated test during pregnancy:
Common Tests During Pregnancy:
Glossary:  From “abdomen” to “zygote,” here’s your guide to pregnancy terminology.
:
High-Risk Pregnancy :
Healthy & Safe Pregnancy
:

Resources:

https://www.health.harvard.edu/fhg/diagnostics/AFP/AFP.shtml?Submit=Know+More+About+This+Test%3F
http://www.parentingweekly.com/pregnancy/pregnancy_information/afp_test.htm

Chorionic Villus Sampling

Definition
Chorionic villi are small structures in the placenta that act like blood vessels. These structures contain cells from the developing fetus. A test that removes a sample of these cells through a needle is called chorionic villus sampling (CVS).Chorionic villus sampling (CVS) is the removal of a small piece of placenta tissue (chorionic villi) from the uterus during early pregnancy to screen the baby for genetic defects
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CVS answers many of the same questions as amniocentesis about diseases that the baby might have. Diseases that can be diagnosed with CVS include Tay-Sachs, sickle cell anemia, cystic fibrosis, thalassemia, and Down syndrome. (Rh incompatibility and neural tube defects, however, can be diagnosed only through amniocentesis.) CVS can be done earlier in pregnancy than amniocentesis and can be done when there is not enough amniotic fluid to allow amniocentesis. However, it has some extra risks when compared with amniocentesis.

Why the Test is Performed
The test is a way of detecting genetic disorders. The sample is used to study the DNA, chromosomes, and enzymes of the fetus. It can be done sooner than amniocentesis, about 10 to 12 weeks after your last menstrual period. Test results take about 1 to 2 weeks, whereas amniocentesis results may take longer.

Chorionic villus sampling does not detect neural tube defects. If neural tube defects or Rh incompatibility are a concern, an amniocentesis will be performed.

This test can usually not diagnose problems in the way the body forms.

How the Test is Performed
CVS can be done through the cervix (transcervical) or through the abdomen (transabdominal). The techniques are equally safe when done by a provider with experience, although miscarriage rates are slightly higher when done through the cervix. The health care provider will use ultrasound to pick the safest approach and as a guide during sampling.

An abdominal ultrasound is performed to determine the position of the uterus, the size of the gestational sac, and the position of the placenta within the uterus. Your vulva, vagina, cervix, and abdomen are cleaned with an antiseptic such as Betadine.

The transcervical procedure is performed by inserting a thin plastic tube through the vagina and cervix to reach the placenta. The provider uses ultrasound images to help guide the tube into the appropriate area and then removes a small sample of chorionic villus tissue.

The transabdominal procedure is performed by inserting a needle through the abdomen and uterus and into the placenta. Ultrasound is used to help guide the needle, and a small amount of tissue is drawn into the syringe.

The sample is placed in a dish and evaluated in a laboratory.

What happens when the test is performed.
There are two ways that your doctor can perform CVS. Some patients have the sampling done through the vagina and cervix. Most patients have the sampling done through the abdominal wall. For both types of sampling, you lie on your back on an examination table and the doctor uses ultrasound to locate the fetus and the placenta.

If the sampling is to be done through the vagina and cervix, you place your feet in footrests and bend your knees up, as you would for a pelvic examination. A speculum (a device that looks like a duck-bill that can be opened and closed) is used to open the vagina so that your doctor can see inside. A long tube, much narrower than a straw, is inserted through the cervix and moved forward while your doctor watches on the ultrasound until it is next to the fetal side of the placenta. A small sample of the lining around the fetus is then pulled into the tube for testing.

If the sampling is to be done through the abdominal wall, your lower abdomen is cleaned with an antibacterial soap. In some cases, the doctor uses a small needle to inject a numbing medicine just under the skin, so that you do not feel the sampling needle. (Because the sampling needle does not cause much more stinging than the numbing medicine itself, not every doctor includes this step.) A hollow needle several inches long is inserted through the skin and muscle of the abdomen and through the wall of the uterus, to the edge of the placenta. This needle is held in place as a guide needle. A narrower needle is then inserted through the first needle and is rotated and moved inward and outward a number of times while a sample is collected into an attached syringe.

The fetal heart tones and the mother’s blood pressure and heart rate are checked at the beginning and end of the procedure. The whole procedure takes close to 30 minutes.

How to Prepare for the Test.
CVS can be done between the 10th and 13th weeks of pregnancy. Tell your doctor ahead of time if you have ever had an allergic reaction to lidocaine or the numbing medicine used at the dentist’s office.

Your health care provider will explain the procedure, its risks, and alternative procedures such as amniocentesis. Genetic counseling is recommended prior to the procedure. This will allow you to make an unhurried, informed decision regarding options for prenatal diagnosis.

You will be asked to sign a consent form before this procedure, and you may be asked to wear a hospital gown.

The morning of the procedure you may be asked to drink fluids and refrain from urinating to fill your bladder, which allows adequate visualization so the sample may be taken.

How the Test Will Feel
The ultrasound doesn’t hurt. A clear, water-based conducting gel is applied to the skin to help with the transmission of the sound waves. A handheld probe called a transducer is then moved over the area. In addition, your health care provider may apply pressure on your abdomen to find the position of your uterus.

The antiseptic cleansing solution will feel cold at first nd may irritate your skin if not washed off after the procedure. Some people are allergic to Betadine. Notify your health care provider if you are allergic to Betadine or if you have any other allergies.

Some women say the vaginal approach feels like a Pap smear with some discomfort and a feeling of pressure. There may be a small amount of vaginal bleeding following the procedure.

An obstetrician can perform this procedure in about 5 minutes, after the preparation

Risk Factors:

The risks of CVS are only slightly higher than those of an amniocentesis.

Possible complications include:

* Bleeding
* Infection
* Miscarriage
* Rh incompatibility in the mother
* Rupture of membranes

Signs of complications include:

* Excessive bleeding
* Excessive vaginal discharge
* Fever

The risk of miscarriage and other complications from CVS is slightly higher than the risk from amniocentesis, although some parents feel that it is worth the extra risk to be able to makedecisions earlier in the pregnancy if the results show the baby has a health problem. There have also been some reports that suggest there is a very small risk of birth defects (abnormal limbs) in the fetus.

One particular difficulty with this test is that due to variability in the cells of the placenta (called mosaicism), occasionally you can have an abnormal test result even if the baby is normal and healthy. This might lead you to make decisions about pregnancy termination that you would not have made if you had better information.

Some women have vaginal bleeding after the procedure. Infection is uncommon.

Report any signs of complications to your health care provider.

CVS may also cause limb problems in the fetus. This risk appears to be very low (1 in 3,000) when CVS is performed after 10 weeks gestational ag

Time to know the  result of the test
Chromosome analysis of the sample takes two weeks or more. The results of some tests may be available sooner.

RESULTS:-

Normal Results
A normal result means there are no signs of any genetic defects. However the test could miss some genetic defects.

Note: Normal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.

What Abnormal Results Mean

An abnormal result may be a sign of more than 200 disorders, including:

* Down syndrome
* Hemoglobinopathies
* Tay-Sachs disease

Considerations
If your blood is Rh negative, you may receive RhoGAM to prevent Rh incompatibility.
You will receive a follow-up ultrasound 2 to 4 days after the procedure to make sure the pregnancy is proceeding normally.

Resources:
https://www.health.harvard.edu/fhg/diagnostics/chorionic-villus-sampling.shtml
http://www.nlm.nih.gov/medlineplus/ency/article/003406.htm

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