This prenatal test involves taking a small sample of cells from the placenta to check for birth defects, genetic diseases, and other problems. Candidates for the test include pregnant women age 35 years or older, couples who have had a child with a birth defect, and pregnant woman who have had other abnormal genetic test results. Potential risks of the test include miscarriage and infection. Cells may be collected through the vagina or through the abdomen. Read more: Chorionic Villus Sampling Article
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24 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.
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
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.
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.
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.
Care Before and During Pregnancy--Prenatal Care
Second Source article from Government
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.
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.
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.
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.
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.
What Chromosome Causes Down 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.
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.
Sexually Transmitted Diseases and Pregnancy (STDs)
When you are pregnant, many sexually transmitted diseases (STDs) can be especially harmful to you and your baby. These STDs include herpes, HIV/AIDS, genital warts (HPV), hepatitis B, chlamydia, syphilis, gonorrhea, and trichomoniasis. Symptoms include bumps, sores, warts, swelling, itching, or redness in the genital region. Treatment of STDs while pregnant depends on how far along you are in the pregnancy and the progression of the infection.
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.