Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Women over the age of 35 have an increased chance of carrying a baby with chromosomal abnormalities. Therefore, the current recommendation is that women who will be age 35 or older at the time of delivery consider having an amniocentesis for fetal chromosome testing. Chromosomal abnormalities in the fetus can lead to mental retardation or other birth defects as seen with
Down's syndrome. The possibility of having a baby with a chromosomal defect increases with the age of the mother.
At age 35 the chance is about 1 in 178.
By age 40, the rate increases to 1 in 63.
By age 48, the ratio is 1 in 8.
For women younger than 35, the risk of complications as a result of amniocentesis may outweigh the possibility that the baby has a chromosomal abnormality (see below,
"Is Amniocentesis Safe?").
After 35, the chance of carrying a baby with a chromosomal abnormality may be more common than experiencing the complications associated with this procedure.
If there is a family history of chromosomal problems or history of prior births in which a chromosomal problem was found, amniocentesis may be recommended. However, the exact benefit of amniocentesis in these situations is uncertain. Many chromosomal defects may not reappear in subsequent pregnancies, and genetic counseling can help a woman decide whether amniocentesis would be of value in these situations.
What does amniocentesis show?
Amniocentesis is very accurate in detecting chromosomal abnormalities and the gender of the fetus. Occasionally, the fetal cells harvested by amniocentesis do not grow in culture and no chromosome data can be obtained. Additionally, the doctor occasionally is unable to extract fluid from the uterus during amniocentesis due to a variety of technical reasons. In both instances, the procedure can be repeated.
Amniocentesis testing for lung maturity can help the doctor make decisions regarding timing of delivery for women in premature labor, or those with diabetes or other medical conditions requiring delivery. Lung maturity testing is not perfect. In rare instances, a baby is born with apparently mature lungs but still experiences difficulty breathing.
The AFP (alpha feto protein) blood test is currently available and can be used to screen for
neural tube defects such as spina bifida and Down's syndrome. An elevated AFP blood level may indicate the possibility that the fetus has a defect in brain and spinal cord development. A low AFP level may indicate the potential for Down's syndrome. When abnormal levels of AFP are found, further evaluation with ultrasound and amniocentesis can be done to look for birth defects and chromosomal abnormalities.
Amniocentesis can also help determine if there are specific genetic problems present in the fetus. Testing for
Tay-Sachs disease, cystic fibrosis,
sickle cell anemia, and other inherited disorders can be performed on samples of amniotic fluid. Checking the cells for specific genes can now be done on the fetal cell cultures. It is also possible to look for a specific protein in the amniotic fluid that can signal a genetic abnormality. Testing for genetic (inherited) diseases is not routinely performed, but is available.
Another common reason for performing amniocentesis is to determine if the fetal lungs are mature enough so that the baby can be safely delivered before the due date. If the fetal lungs are not mature, an attempt can be made to stop premature labor with medications. If the lung tissues are mature, it may be safe for the premature baby to be born. This test can also help in the timing of delivery when the due date is uncertain.
Occasionally, a pregnant woman may have a fever without an obvious site of infection. In these instances, an amniocentesis may be performed to determine if the cause of the mother's fever is from an
intrauterine infection, when the source of the infection is unclear.
The overall possibility of birth defects in any pregnancy is approximately 3%. For defects such as
cleft lip, hernia, and extra fingers or toes, there are no prenatal screening tests and amniocentesis will not be of benefit. Ultrasound is the only helpful test in detecting these defects in the fetus.
There are many symptoms involved in the 1st, 2nd and 3rd trimesters of pregnancy. The first early 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. Read more to learn about recommended procedures and tests for each stage of a healthy pregnancy.
Diabetes mellitus 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.
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus.
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
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, 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.
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal hemoglobin. Symptoms 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.
Infertility is the diminished ability to conceive a child. The primary cause of infertility in men is a sperm disorder. In women, the primary cause of infertility is an ovulation disorder. Most forms of infertility can be treated. Conventional infertility therapies include drugs or surgery.
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.
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.
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.
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.
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 planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
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 spina bifida the person suffers.
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.
There are a number of different methods of birth control to include: barrier methods, IUDs, hormonal methods, natural methods, and surgical sterilization. Birth control methods can be reversible or permanent. In simple terms, all methods of birth control are based on either preventing a man's sperm from reaching and entering a woman's egg (fertilization) or preventing the fertilized egg from implanting in the woman's uterus (her womb) and starting to grow.
Gestational diabetes is a condition that is first recognized during pregnancy and is characterized by high blood sugar. Approximately 4% of all pregnancies are diagnosed with gestational diabetes. Low blood sugar is prevented by hormones produced by the placenta during a woman's pregnancy. The actions of insulin are stopped by these hormones. Gestational diabetes is the result of the pancreas' s inability to produce enough insulin to overcome the effect of the increase hormones during pregnancy.
Hemophilia is one of a group of inherited bleeding disorders. Hemophilia A and B are inherited in an X-linked recessive genetic pattern and is more common in males. Symptoms of hemophilia include bleeding into the joints, muscles, GI or urinary tract, or brain or skull. Treatments for hemophilia is generally replacement of blood clotting factors.
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.
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.
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.
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