During an amniocentesis, a sample of the amniotic fluid is taken to screen for certain birth defects (Down's syndrome, neural tube defects, spina bifida, cystic fibrosis), lung maturity of the fetus, infection, or chromosome analysis. Amniocentesis is recommended for women giving birth after the age of 35. Read more: Amniocentesis Test Article
Multimedia: Slideshows, Images & Quizzes
Related Disease Conditions
Fragile X Syndrome
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Early Pregnancy Symptoms and Signs
Pregnancy symptoms can vary from woman to woman, and not all women experience the same symptoms. When women do experience pregnancy symptoms they may include symptoms include missed menstrual period, mood changes, headaches, lower back pain, fatigue, nausea, breast tenderness, and heartburn. Signs and symptoms in late pregnancy include leg swelling and shortness of breath. Options for relief of pregnancy symptoms include exercise, diet, and other lifestyle changes.
Pregnancy Changes and Body Discomforts
Pregnancy can bring challenges like weight gain, stretch marks, varicose veins, heartburn, constipation, hemorrhoids, problems sleeping, and wondering if it is safe to have sex while pregnant. Learn how to manage and move through these challenges during pregnancy.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Hemophilia A and B (Bleeding Disorders)
Hemophilia is defined as one of a group of inherited bleeding disorders. Hemophilia A and hemophilia B are inherited in an X-linked recessive genetic pattern. Symptoms of hemophilia include bleeding into the: joints, muscles, GI or urinary tract, or brain or skull. Hemophilia treatment generally involves the replacement of blood clotting factors.
Urine Blockage in Newborns
There are many syndromes and defects that may cause urine blockage in newborns. Defects in the urinary tract that may cause urine blockage include vesicoureteral reflux, ureteropelvic junction obstruction, bladder outlet obstruction, posterior urethral valves, nerve disease, and ureterocele. Syndromes that may cause urinary blockage include congenital heart defects, esophageal atresia, and prune belly syndrome. Treatment for urine blockage in newborns depends on the cause of the blockage.
Fetal Movement (Quickening): Feeling Baby Kick
Pregnancy can be one of the most joyous time in a couple's life. Learn what your baby's first movements may feel like week by week, how often you may feel them, what time of day the baby is most active, and what to do if you feel your baby is not moving as much as you feel it should be moving.
Hunter Syndrome (Mucopolysaccharidosis II, MPS II)
Hunter syndrome (mucopolysaccharidosis II, MPS II) is an inherited or genetic disease. Signs and symptoms of Hunter syndrome include diarrhea, voice changes, facial changes, and distended abdomen. Treatment for Hunter syndrome is geared toward symptoms of the disease with idursulfase or Elaprase (enzyme replacement therapy).
What Are the Most Common Birth Defects?
A birth defect is a health condition that is present since birth. Birth defects may change the shape or function of one or more parts of the body. They can cause problems in overall health.
What Does Amniocentesis Test For?
Amniocentesis is a procedure in which a small amount of amniotic fluid (the fluid present around the unborn baby in the uterus) is removed for testing or treatment purposes. The amniotic fluid contains fetal cells and various proteins.
Why Is Amniocentesis Done in Polyhydramnios?
Amniocentesis may be done for various diagnostic and therapeutic reasons. Amnioreduction helps in the treatment of polyhydramnios. This is a condition in which the amount of the amniotic fluid is more than what it should be for the gestational age.
How Do You Diagnose Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) is a genetic condition that results in weakness and wasting of muscles in infants. For diagnosing spinal muscular atrophy (SMA), certain tests are carried out to check if your child has this condition.
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
Cystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease leaves the body malnourished, with bulky and fouls smelling stools, vitamin insufficiency, gas, painful or swollen abdomen, infertility, susceptible to heat emergencies, and respiratory failure. There is no cure for cystic fibrosis, treatment of symptoms is used to manage the disease.
Diabetes (Type 1 and Type 2)
Diabetes is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes are referred to as type 1 (insulin dependent) and type 2 (non-insulin dependent). Symptoms of diabetes include increased urine output, thirst, hunger, and fatigue. Treatment of diabetes depends on the type.
Miscarriage is the medical term for the spontaneous loss of pregnancy from conception to 20 weeks gestation. Risk factors for a woman having a miscarriage include cigarette smoking, older maternal age, radiation exposure, previous miscarriage, maternal weight, illicit drug use, use of NSAIDs, and trauma or anatomical abnormalities to the uterus. There are five classified types of miscarriage: 1) threatened abortion; 2) incomplete abortion; 3) complete abortion; 4) missed abortion; and (5 septic abortion. While there are no specific treatments to stop a miscarriage, a woman's doctor may advise avoiding certain activities, bed rest, etc. If a woman believes she has had a miscarriage, she needs to seek prompt medical attention.
Pregnancy Planning (Tips)
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes taking prenatal vitamins, eating healthy for you and your baby, disease prevention (for both parents and baby) to prevent birth defects and infections, avoiding certain medications that may be harmful to your baby, how much weight gain is healthy exercise safety and pregnancy, travel during pregnancy.
Sickle Cell Disease (Anemia)
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is caused by an inherited abnormal hemoglobin. Symptoms of sickle cell anemia may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down syndrome signs and symptoms include distinctive facial features, growth retardation, and decreased mental function and IQ. Blood tests and ultrasound may be used to screen for Down syndrome but chromosome analysis of the fetus is needed to diagnose the condition. People with Down syndrome age more quickly and may develop Alzheimer's disease as young as age 40. Sometimes people are diagnosed with mosaic Down syndrome, in which case they have more than one type of chromosomal makeup.
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Spina Bifida (Anencephaly, Neural Tube Defects) in Babies and Adults
Spina bifida is the most common neural tube defect in the United States. There are four types of spina bifida; 1) occulta, 2) closed neural tube defects, 3) meningocele, and 4) myelomeningocele. The cause of spina bifida is not known. Theories include genetic, nutritional, and environmental factors. Lack of folic acid during pregnancy is highly suspected. Symptoms of spina bifida vary from individual to individual. Treatment depends on the type of spanina bifida the person suffers.
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth.
Pregnancy and Drugs (Prescription and OTC)
Taking prescription medications or over-the-counter drugs or supplements should be discussed with your doctor. There are some medications that have been found to cause no problems in pregnancy, however, medications such as Accutane for acne, should never be taken during pregnancy.
Canavan disease is an inherited genetic disorder that typically causes death before 10 years of age. Signs and symptoms of the disease include developmental delays, loss of muscle tone, enlargement of the head, and severe feeding problems. The disease is most prevalent in the Ashkenazi Jewish population. There is no treatment for the disease.
Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Some men with Klinefelter syndrome have no symptoms. Treatment includes educational, therapeutic, and medical therapy.
Birth Control Options
Birth control is available in a variety of methods and types. The method of birth control varies from person to person, and their preferences to either become pregnant or not. Examples of barrier methods include barrier methods (sponge, spermicides, condoms), hormonal methods (pill, patch), surgical sterilization (tubal ligation, vasectomy), natural methods, and the morning after pill. Side effects and risks of each birth control option should be reviewed prior to using any birth control method.
Pregnancy (Week by Week, Trimesters)
Signs and symptoms of pregnancy vary by stage (trimester). The earliest pregnancy symptom is typically a missed period, but others include breast swelling and tenderness, nausea and sometimes vomiting, fatigue, and bloating. Second trimester symptoms include backache, weight gain, itching, and possible stretch marks. Third trimester symptoms are additional weight gain, heartburn, hemorrhoids, swelling of the ankles, fingers, and face, breast tenderness, and trouble sleeping. Eating a healthy diet, getting a moderate amount of exercise, also are recommended for a healthy pregnancy. Information about the week by week growth of your baby in the womb are provided.
Infertility is the diminished ability to conceive a child. Infertility can be a problem with both men and women. Infertility in men can be caused by medical conditions, unhealthy habits, and toxins from the environment. Infertility in women can be caused by problems with ovarian function, the Fallopian tubes, or the physical characteristics of the uterus. Methods of conceiving for couples that cannot conceive include intrauterine inseminations (IUIs) or in vitro fertilization (IVF), specific drugs, assisted reproductive technology (ART), surgery, and gestational carrier.
Gestational Diabetes (Diabetes during Pregnancy))
Learning how to avoid gestational diabetes is possible and maintaining a healthy weight and diet before and during pregnancy can help. Discover risk factors, tests and treatments for, and signs and symptoms of gestational diabetes.
Cleft Palate and Cleft Lip
Cleft palate and cleft lip are facial and oral defects that occur early in pregnancy. A cleft lip is a split of the two sides of the upper lip, and a cleft palate is a split in the roof of the mouth. Cleft lip the fourth most common birth defect in the U.S. Repair of a cleft palate or cleft lip may require multiple surgeries.
Local ResourcesFind a local Obstetrician-Gynecologist in your town
Treatment & Diagnosis
Medications & Supplements
Prevention & Wellness
- Prenatal Test Advance May Help Spot Serious Gene Mutations
- Pregnant Travelers, Tough Choices on Zika Testing
- Prenatal Gene Tests Can Sometimes Spot Cancer in Mom-to-Be
- Newer Test for Down Syndrome Called 'Major Advance'
- Better-Informed Women Order Fewer Prenatal Gene Tests, Study Finds
- Hormone Levels in Womb Tied to Autism Risk in Boys: Study
- Prenatal Test Presents Dilemmas to Expectant Mothers
- Stem Cells Fix Bladder Leakage in Mice, Study Finds
- Blood Test May Spot Genetic Disease in Fetuses
- New Earlier, Noninvasive Paternity Test Developed
- Blood Test Detects Down Syndrome During Pregnancy
- Blood Test May Reveal Child's Sex Soon After Conception
- Progress Toward Blood Test for Down Syndrome
- Mom's Blood Sample Yields Unborn Baby's Genetics