A diagnostic procedure performed during the second trimester of pregnancy to detect fetal abnormalities and genetic diseases. The test involves sampling a small amount of amniotic fluid surrounding the fetus by inserting a needle through the abdominal wall under ultrasound guidance. Composition of amniotic fluid: The fluid consists primarily of fetal secretions, such as urine, shed cells from various tissues, and other secretions, making it useful for laboratory testing to assess fetal health. Common indications for amniocentesis: Genetic screening – Detection of chromosomal disorders such as Down syndrome (trisomy 21) and other genetic diseases. Infectious disease diagnosis – Identifying infections that could impact fetal development. Assessment of fetal anemia severity – Evaluating anemia severity in fetuses with maternal-fetal blood incompatibility (such as Rh incompatibility). Determination of fetal blood type or platelet type – In cases where there is concern about blood clotting disorders. Neural tube defect screening – Detecting conditions such as spina bifida and anencephaly. In the past, amniocentesis was also used to assess fetal lung maturity before preterm birth, but this test is rarely performed today. Since amniocentesis is an invasive procedure, it is recommended only when there is a clear medical indication and after consulting a genetic specialist or maternal-fetal medicine physician.
A medical field specializing in the function of the male reproductive system, both under normal and pathological conditions. Andrology includes research, diagnosis, and treatment of male fertility issues such as: Sperm production and function Hormonal disorders in men Erectile dysfunction (impotence) Prostate problems Varicocele (enlargement of veins in the testicles) Genetic disorders affecting male fertility Andrology is the male equivalent of gynecology, which focuses on female reproductive health.
A genetic term describing a condition in which an individual has an abnormal number of chromosomes, usually caused (in about 90% of cases) by errors in chromosome separation during maternal meiosis—the process of creating reproductive cells (eggs). A normal chromosomal structure is called euploidy, where an organism has a standard chromosome set according to its species. In humans, the normal number of chromosomes is 46 (2n), meaning 23 pairs. In aneuploidy, the chromosome number deviates from normal: Trisomy – A condition where there is an extra copy of a particular chromosome (three copies instead of two). A common example is Down syndrome (Trisomy 21), where there are three copies of chromosome 21. Monosomy – A condition where one chromosome is missing (only one copy instead of two). An example is Turner syndrome (45,X), where only one X chromosome is present without a second sex chromosome. Aneuploidy is a major cause of infertility, miscarriages, and birth defects. It can be detected through prenatal genetic testing, such as amniocentesis or advanced genetic screening tests.
A condition where ovulation does not occur, meaning no egg is released from the ovary. Anovulation is a common cause of female infertility, as without ovulation, fertilization and natural pregnancy are impossible. It can result from hormonal imbalances, polycystic ovary syndrome (PCOS), stress, extreme weight changes, premature ovarian insufficiency (POI), or other medical factors. Diagnosis and Treatment: Tracking menstrual cycles, blood tests to measure hormone levels, and ultrasound scans to examine ovarian function help diagnose anovulation. Treatment depends on the underlying cause and may include ovulation-inducing medications, lifestyle changes, or advanced fertility treatments.
A protein hormone produced by specialized cells in ovarian follicles. AMH levels in the blood help assess the number of follicles in the ovaries, providing an indication of the available egg supply—known as ovarian reserve, or the ovary's ability to provide healthy eggs for fertilization. However, AMH testing does not measure egg or embryo quality, meaning that AMH levels alone do not serve as a definitive indicator of female fertility in the general population or specific patient groups. Despite this limitation, AMH testing can serve as an indirect marker of reproductive lifespan, particularly in cases of premature ovarian insufficiency (e.g., women with a history of chemotherapy or ovarian surgery) or polycystic ovary syndrome (PCOS), where AMH levels are typically elevated. Typical AMH levels: Normal range in fertile women: 1.0 - 4.0 ng/mL Levels below 1.0 ng/mL suggest diminished ovarian reserve, potentially indicating reduced fertility. AMH testing is often used as a decision-making tool in fertility treatments but should be interpreted cautiously within a comprehensive clinical evaluation.
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