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Chorionic Villus Sampling

Chorionic villus sampling (CVS) is a test used for prenatal diagnosis. Safe to perform at an earlier stage in pregnancy than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman's last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soon after the embryonic stage of development.

Format: Articles

Subject: Technologies

Noninvasive Fetal Aneuploidy Detection for Trisomy 21, 13, and 18

Noninvasive fetal aneuploidy detection technology allows for the detection of fetal genetic conditions, specifically having three chromosomes, a condition called aneuploidy, by analyzing a simple blood sample from the pregnant woman. Dennis Lo and Rossa Chiu researched methods of detection of aneuploidies in the early twenty-first century. Their research has been specifically applied to three trisomies, trisomy twenty-one known as Down syndrome, trisomy eighteen known as Edwards Syndrome, and trisomy thirteen known as Patau Syndrome.

Format: Articles

Subject: Technologies

"Presence of Fetal DNA in Maternal Plasma and Serum" (1997), by Dennis Lo, et al.

In the late 1990s researchers Yuk Ming Dennis Lo and his colleagues isolated fetal DNA extracted from pregnant woman’s blood. The technique enabled for more efficient and less invasive diagnoses of genetic abnormalities in fetuses, such as having too many copies of chromosomes.

Format: Articles

Subject: Experiments

Dennis Lo (1963- )

Dennis Lo, also called Yuk Ming Dennis Lo, is a
professor at the Chinese University of Hong Kong in Hong Kong,
China. In 1997, Lo discovered fetal DNA in maternal
plasma, which is the liquid component of a pregnant woman's
blood. By 2002, Lo distinguished the DNA differences between pregnant women
and their fetuses, enabling scientists to identify fetal DNA in pregnant
women's blood. Lo used his discoveries to develop several
non-invasive and prenatal genetic tests, including tests for blood

Format: Articles

Subject: People, Reproduction

Using Digital PCR to Detect Fetal Chromosomal Aneuploidy in Maternal Blood (2007)

In 2007, Dennis Lo and his colleagues used digital polymerase chain reaction or PCR to detect trisomy 21 in maternal blood, validating the method as a means to detect fetal chromosomal aneuploidies, or an abnormal number of chromosomes in a cell. The team conducted their research at the Chinese University of Hong Kong in Hong Kong, Hong Kong, and at the Boston University in Boston, Massachusetts.

Format: Articles

Subject: Experiments

Amniocentesis Prior to 1980

The extraembryonic membranes that surround and originate from the embryos of vertebrates such as birds, reptiles, and mammals are crucial to their development. They are integral to increasing the surface area of the uterus, forming the chorion (which in turn produces the placenta) and the amnion, respectively. The amnion will ultimately surround the embryo in a fluid-filled amniotic cavity. This amniotic fluid, which cushions and protects the fetus and helps prevent the onset of labor, is sampled in amniocentesis to screen for genetic diseases.

Format: Articles

Subject: Processes, Reproduction

Amniocentesis

Amniocentesis is a test used for prenatal diagnosis of inherited diseases, Rh incompatibility, neural tube defects, and lung maturity. Normally performed during the second trimester of a pregnancy, this invasive procedure allows the detection of health problems in the fetus as early as fifteen weeks gestation. Although amniocentesis does carry some significant risks, the medical community commonly accepts it as a safe and useful procedure.

Format: Articles

Subject: Technologies, Reproduction

Diana W. Bianchi

Diana W. Bianchi studied the medical treatment of premature and newborn infants in the US during the twentieth and twenty-first centuries. Bianchi helped develop non-invasive prenatal genetic tests that use cell-free fetal DNA found within maternal blood to diagnose genetic abnormalities of the fetus during pregnancy. The test provides a means to test fetuses for chromosomal and genetic abnormalities.

Format: Articles

Subject: People

Social Implications of Non-Invasive Blood Tests to Determine the Sex of Fetuses

By 2011, researchers in the US had established that non-invasive blood tests can accurately determine the gender of a human fetus as early as seven weeks after fertilization. Experts predicted that this ability may encourage the use of prenatal sex screening tests by women interested to know the gender of their fetuses. As more people begin to use non-invasive blood tests that accurately determine the sex of the fetus at 7 weeks, many ethical questions pertaining to regulation, the consequences of gender-imbalanced societies, and altered meanings of the parent-child relationship.

Format: Articles

Subject: Reproduction, Ethics, Legal

Fetal Surgery

Fetal surgeries are a range of medical interventions performed in utero on the developing fetus of a pregnant woman to treat a number of congenital abnormalities. The first documented fetal surgical procedure occurred in 1963 in Auckland, New Zealand when A. William Liley treated fetal hemolytic anemia, or Rh disease, with a blood transfusion.

Format: Articles

Subject: Disorders, Ethics, Reproduction

Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (PGD) involves testing for specific genetic conditions prior to the implantation of an embryo in the uterine wall. This form of genetic screening has been made possible by the growth of in-vitro fertilization (IVF) technology, which allows for the early stages of development to occur in a laboratory dish rather than in vivo. The purpose of PGD is to identify what are considered to be abnormal embryos in order to select the most desirable embryos for implantation.

Format: Articles

Subject: Technologies, Reproduction

Cystic Fibrosis

Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts. The abnormally thick mucus prevents the pancreas from functioning normally; it often leads to digestive problems and chronic lung infections. Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier for the mutated CF gene.

Format: Articles

Subject: Disorders

Trisomy 18 (Edwards Syndrome)

John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs when cells have an extra copy of a chromosome, in humans - in 1960. Trisomy 18, also known as Edwards Syndrome, occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down's Syndrome, as an autosomal trisomy. Trisomy 18 causes substantial developmental problems in utero.

Format: Articles

Subject: Disorders

Lap-Chee Tsui (1950-)

Lap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. As the location of the cystic fibrosis gene is now known, it is possible for doctors and specialists to identify in human fetuses the mutation that causes the fatal disease. Tsui's research also outlined the mechanisms for the development of cystic fibrosis, which were previously unknown.

Format: Articles

Subject: People, Reproduction

Rh Incompatibility in Pregnancy

Rh incompatibility occurs when a pregnant woman whose blood type is Rh-negative is exposed to Rh-positive blood from her fetus, leading to the mother s development of Rh antibodies. These antibodies have the potential to cross the placenta and attach to fetal red blood cells, resulting in hemolysis, or destruction of the fetus 's red blood cells. This causes the fetus to become anemic, which can lead to hemolytic disease of the newborn. In severe cases, an intrauterine blood transfusion for the fetus may be required to correct the anemia.

Format: Articles

Subject: Processes, Disorders, Reproduction

Tay-Sachs Disease

In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child's physical and mental retardation. This cherry-red spot is a characteristic that would eventually come to be associated with metabolic neurological disorders like Sandhoff, GM-1, Niemann-Pick, and, to the credit of Tay, the lysosomal storage disorder known as Tay-Sachs disease.

Format: Articles

Subject: Disorders

Congenital Rubella Syndrome (CRS)

Congenital rubella syndrome (CRS) can occur in children whose mothers contracted the rubella virus, sometimes called German measles, during pregnancy. Depending on the gestational period when the mother contracts rubella, an infant born with CRS may be unaffected by the virus or it may have severe developmental defects. The most severe effects of the virus on fetal development occur when the mother contracts rubella between conception and the first trimester.

Format: Articles

Subject: Disorders

Conjoined Twins

Conjoined twins are twins whose bodies are anatomically joined in utero. The degree to which the twins are attached can range from simple, involving skin and cartilage, to complex, including fusion of the skull(s), brain(s), or other vital organs. There are more than a dozen classifications of conjoined twins but what they all tend to have in common is the sharing of the chorion, placenta, and amniotic sac.

Format: Articles

Subject: Disorders, Reproduction

Endoscopic Fetoscopy

Endoscopic fetoscopy is a minimally invasive surgical procedure performed during pregnancy that allows physicians to view the fetus in-utero. Physicians use endoscopic fetoscopy to evaluate, diagnose, and treat fetal abnormalities. Physicians use an endoscope, or a thin, flexible surgical device with a light attached to its end, to perform endoscopic fetoscopy procedures. In 1954, Björn Westin performed the first endoscopic fetoscopy in Sweden.

Format: Articles

Subject: Technology

Radioimmunoassay

Radioimmunoassay (RIA) is a technique in which researchers use radioactive isotopes as traceable tags to quantify specific biochemical substances from blood samples. Rosalyn Yalow and Solomon Berson developed the method in the 1950s while working at the Bronx Veterans Administration (VA) Hospital in New York City, New York. RIA requires small samples of blood, yet it is extremely sensitive to minute quantities of biological molecules within the sample. The use of RIA improved the accuracy of many kinds of medical diagnoses, and it influenced hormone and immune research around the world.

Format: Articles

Subject: Technologies

Alec John Jeffreys (1950–)

Alec John Jeffreys created a process called DNA fingerprinting in the UK during the twentieth century. For DNA fingerprinting, technicians identify a person as the source of a biological sample by comparing the genetic information contained in the person's DNA to the DNA contained in the sample. Jeffreys developed the technique in the 1980s while at the University of Leicester in Leicester, UK. Jeffreys's technique had immediate applications. In forensic science, DNA fingerprinting enabled police to identify suspects of crimes based on their genetic identities.

Format: Articles

Subject: People

Pregnancy Tests

Throughout history methods involving urine have been a popular way to test for pregnancy. Early ideas ranged from simply observing the color of a woman's urine to the notion that the urine of pregnant women contains special crystals or secretions. Indeed, pregnancy testing can be traced back to 1350 BCE in Ancient Egypt. A written document from the time describes a process in which a woman would urinate on wheat and barley seeds over several days and, depending on which plant grew, both the woman's pregnancy status and the sex of the fetus could be determined.

Format: Articles

Subject: Technologies, Reproduction

Harald zur Hausen's Experiments on Human Papillomavirus Causing Cervical Cancer (1976–1987)

From 1977 to 1987, Harald zur Hausen led a team of researchers across several institutions in Germany to investigate whether the human papillomavirus (HPV) caused cervical cancer. Zur Hausen's first experiment tested the hypothesis that HPV caused cervical cancer rather than herpes simplex virus type 2 (HSV-2), the then accepted cause. His second and third experiments detailed methods to identify two previously unidentified HPV strains, HPV 16 and HPV 18, in cervical cancer tumor samples. The experiments showed that HPV 16 and 18 DNA were present in cervical tumor samples.

Format: Articles

Subject: Experiments

Alec Jeffreys’s Experiments to Identify Individuals by Their Beta-globin Genes (1977-1979)

In a series of experiments in the late 1970s, Alec J. Jeffreys in the UK and Richard A. Flavell in the Netherlands developed a technique to detect variations in the DNA of different individuals. They compared fragments of DNA from individuals’ beta-globin genes, which produce a protein in hemoglobin. Previously, to identify biological material, scientists focused on proteins rather than on genes. But evidence about proteins enabled scientists only to exclude, but not to identify, individuals as the sources of the biological samples.

Format: Articles

Subject: Experiment

The Aschheim-Zondek Test for Pregnancy

Throughout history many different methods have been devised for the early detection of pregnancy. From the time of the Ancient Egyptians, inspection of the urine has been a popular place to start. However, it was not until the discovery of hormones in the early twentieth century that the development of truly reliable pregnancy tests occurred. Prior to 1978, when the first home pregnancy tests became available in the United States, pregnancy testing was done in hospital laboratories using various methods, one of them being the Aschheim-Zondek, or A-Z test.

Format: Articles

Subject: Technologies, Reproduction

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