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Clinical Diagnosis
Clinical Diagnosis
Pathology is the study and diagnosis of disease through examination of organs, tissues, cells and body fluids.Study of disease
The diagnosis is made by taking a family history and a thorough examination of the patient's eyes, heart, and bone structure.
Incisions are made through the mother's abdominal wall. Using ultrasound as a guide. A narrow tube is placed through a tiny hole in the uterine wall to drain and collect the amniotic fluid.
Thrush is a yeast (fungal) infection that is typically diagnosed through a fungal culture or a microscopic examination of the exudate.
Amniocentesis (also referred to as amniotic fluid test or AFT), is a medical procedure used in prenatal diagnosis of genetic risk factors, in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is examined for genetic abnormalities.Before the actual procedure, a local anesthetic is sometimes given to relieve the pain when inserting the syringe to withdraw the fluid. A syringe is usually inserted through the mother's abdominal wall or at the end of the vagina, and through the wall of the uterus into the amniotic sac. With assistance from ultrasound a physician aims an area of the sac that is away from the fetus and extracts a small amount of amniotic fluid for testing. The puncture heals, and the amniotic sac automatically replenishes the liquid over a day or so. After the amniotic fluid is extracted, the fetal cells are separated from it using a centrifuge, and cell chromosomes are examined for abnormalities. Various genetic testing may be performed, but the three most common abnormalities tested for are Down's syndrome, Trisomy 18 and spina bifida. Amniocentesis can be performed as soon as sufficient amniotic fluid surrounds the fetus to allow a sample to be recovered relatively safely, usually no earlier than the 14th week of pregnancy. Often, genetic counseling is offered in conjunction with amniocentesis.
The woman is given an injection to numb the area - then using an ultra sound as a guide, a needle is placed through the mother's abdomen into the uterus and a small amount of amniotic fluid is removed.
A diagnosis of papilledema is achieved by visual examination of the eye with an ophthalmoscope. This instrument shines light through the pupil of the eye and illuminates the retina while the clinician looks through it.
A prenatal infection is a maternal infection that is transmitted to the fetus through the placenta.
In families who have an increased risk of Sjogren-Larsson disease, prenatal diagnosis can be accomplished through amniocentesis, chorionic villi sampling, or fetal skin biopsy.
Prenatal diagnosis of a chromosome abnormality is only possible currently through two procedures: Chorionic Villus Sampling (CVS) and Amniocentesis. Both procedures are capable of diagnosing chromosome abnormalities, however they differ in several key ways including timing during the pregnancy and the type of specimen used to make the diagnosis. To find out which is most appropriate for you, please contact your primary care doctor or obstetrician.