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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

Walter Jakob Gehring (1939-2014)

Walter Jakob Gehring discovered the homeobox, a DNA segment found in a specific cluster of genes that determine the body plan of animals, plants, and fungi. Gehring identified the homeobox in 1983, with the help of colleagues while isolating the Antennapedia (Antp) gene in fruit flies (Drosophila) at the University of Basel in Basel, Switzerland. Hox genes, a family of genes that have the homeobox, determine the head-to-tail (anterior-posterior) body axis of both vertebrates and invertebrates.

Format: Articles

Subject: People

Francis Harry Compton Crick (1916-2004)

Francis Harry Compton Crick, who co-discovered the structure of deoxyribonucleic acid (DNA) in 1953 in Cambridge, England, also developed The Central Dogma of Molecular Biology, and further clarified the relationship between nucleotides and protein synthesis. Crick received the Nobel Prize in Physiology or Medicine that he shared with James Watson and Maurice Wilkins in 1962 for their discovery of the molecular structure of DNA.

Format: Articles

Subject: People

Hermann Joseph Muller's Study of X-rays as a Mutagen, (1926-1927)

Hermann Joseph Muller conducted three experiments in 1926 and 1927 that demonstrated that exposure to x-rays, a form of high-energy radiation, can cause genetic mutations, changes to an organism's genome, particularly in egg and sperm cells. In his experiments, Muller exposed fruit flies (Drosophila) to x-rays, mated the flies, and observed the number of mutations in the offspring. In 1927, Muller described the results of his experiments in "Artificial Transmutation of the Gene" and "The Problem of Genic Modification".

Format: Articles

Subject: Experiments

Anencephaly

Anencephaly is an open neural tube defect, meaning that part of the neural tube does not properly close or that it has reopened during early embryogenesis. An embryo with anencephaly develops without the top of the skull, but retains a partial skull, including the face. Anencephaly is one of the most common birth defects of the neural tube, occurring at a rate of approximately one in one thousand human pregnancies. The condition can be caused by environmental exposure to chemicals, dietary deficiencies, or genetic mutations.

Format: Articles

Subject: Disorders, Reproduction

Hermann Joseph Muller (1890-1967)

Hermann Joseph Muller studied the effects of x-ray radiation on genetic material in the US during the twentieth century. At that time, scientists had yet to determine the dangers that x-rays presented. In 1927, Muller demonstrated that x-rays, a form of high-energy radiation, can mutate the structure of genetic material. Muller warned others of the dangers of radiation, advising radiologists to protect themselves and their patients from radiation. He also opposed the indiscriminate use of radiation in medical and industrial fields.

Format: Articles

Subject: People

2D Obstetric Ultrasound

The development of the obstetric ultrasound has allowed physicians and embryologists to obtain a clear picture of the developing human embryo and fetus during pregnancy. Obstetric ultrasonography, often referred to as ultrasound, is a technology that uses sound waves to produce images of structures inside the human body. A handheld probe emits sound waves, which are reflected back by the different structures within the body.

Format: Articles

Subject: Technologies, Reproduction

Effects of Prenatal Alcohol Exposure on Basal Ganglia Development

Prenatal exposure to alcohol (ethanol) in human and animal models results in a range of alcohol-induced developmental defects. In humans, those collective birth defects are called Fetal Alcohol Spectrum Disorders, with the most severe manifestation being Fetal Alcohol Syndrome (FAS). FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). The basal ganglia, one of the central nervous system components, are affected by exposure to ethanol during development.

Format: Articles

Subject: Disorders, Reproduction

Carnegie Stages

Historically the exact age of human embryo specimens has long perplexed embryologists. With the menstrual history of the mother often unknown or not exact, and the premenstrual and postmenstrual phases varying considerably among women, age sometimes came down to a best guess based on the weight and size of the embryo. Wilhelm His was one of the first to write comparative descriptions of human embryos in the late 1800s. Soon afterward, Franklin P. Mall, the first director of the Carnegie Institution of Washington's (CIW) Department of Embryology, expanded upon His' work.

Format: Articles

Subject: Theories

Effects of Prenatal Alcohol Exposure on Cardiac Development

A variety of developmental defects occur as a result of prenatal exposure to alcohol (ethanol) in utero. In humans, those defects are collectively classified as Fetal Alcohol Spectrum Disorders, with Fetal Alcohol Syndrome (FAS) representing the more severe defects. FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). In addition to those defects, prenatal exposure to alcohol impacts cardiogenesis, the developmental stage of heart formation.

Format: Articles

Subject: Disorders, Reproduction

Effects of Prenatal Alcohol Exposure on Ocular Development

Maternal consumption of alcohol (ethanol) can result in a range of alcohol-induced developmental defects. In humans, those collective birth defects are called Fetal Alcohol Spectrum Disorders, with the most severe manifestation being Fetal Alcohol Syndrome (FAS). FAS is defined by pre- and post-natal growth retardation, minor facial abnormalities, and deficiencies in the central nervous system (CNS). The eye and ocular system development is particularly susceptible to the effects of prenatal alcohol exposure and can result in visual impairment or blindness.

Format: Articles

Subject: Disorders, Reproduction

Facial Abnormalities of Fetal Alcohol Syndrome (FAS)

Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome (FAS) was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system. The pattern of facial defects that occur as a result of ethanol exposure during development primarily affects the midline of the face, altering morphology of the eyes, nose, and lips.

Format: Articles

Subject: Disorders, Reproduction

Walter Edward Dandy (1886-1946)

Walter Edward Dandy studied abnormalities in the developing human brain in the United States in the twentieth century. He collaborated with pediatrician Kenneth Blackfan to provide the first clinical description of Dandy-Walker Syndrome, a congenital brain malformation in which the medial part of the brain, called the cerebellar vermis, is absent. Dandy also described the circulation of cerebral spinal fluid, the clear, watery fluid that surrounds and cushions the brain and spinal cord.

Format: Articles

Subject: People

Rosalyn Sussman Yalow (1921-2011)

Rosalyn Sussman Yalow co-developed the radioimmunoassay (RIA), a method used to measure minute biological compounds that cause immune systems to produce antibodies. Yalow and research partner Solomon A. Berson developed the RIA in the early 1950s at the Bronx Veterans Administration (VA) Hospital, in New York City, New York. Yalow and Berson's methods expanded scientific research, particularly in the medical field, and contributed to medical diagnostics. For this achievement, Yalow received the Nobel Prize in Physiology or Medicine in 1977.

Format: Articles

Subject: People

Effects of Prenatal Alcohol Exposure on Cerebellum Development

Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading fetal alcohol spectrum disorders (FASD). Fetal alcohol syndrome (FAS) is the most severe combination of these defects under this heading, and is characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system (CNS).

Format: Articles

Subject: Disorders, Reproduction

Parasitic Twins

Parasitic twins, a specific type of conjoined twins, occurs when one twin ceases development during gestation and becomes vestigial to the fully formed dominant twin, called the autositic twin. The underdeveloped twin is called parasitic because it is only partially formed, is not functional, or is wholly dependent on the autositic twin.

Format: Articles

Subject: Disorders, Reproduction

Twin-to-Twin Transfusion Syndrome

Twin-to-Twin Transfusion Syndrome (TTTS) is a rare placental disease that can occur at any time during pregnancy involving identical twins. TTTS occurs when there is an unequal distribution of placental blood vessels between fetuses, which leads to a disproportionate supply of blood delivered. This unequal allocation of blood leads to developmental problems in both fetuses that can range in severity depending on the type, direction, and number of interconnected blood vessels.

Format: Articles

Subject: Disorders, Reproduction

Developmental Timeline of Alcohol-Induced Birth Defects

Maternal consumption of alcohol (ethanol) during pregnancy can result in a continuum of embryonic developmental abnormalities that vary depending on the severity, duration, and frequency of exposure of ethanol during gestation. Alcohol is a teratogen, an environmental agent that impacts the normal development of an embryo or fetus. In addition to dose-related concerns, factors such as maternal genetics and metabolism and the timing of alcohol exposure during prenatal development also impact alcohol-related birth defects.

Format: Articles

Subject: Disorders, Reproduction

Effects of Prenatal Alcohol Exposure on Central Nervous System Development

Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome (FAS) is part of this group and was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities and defects of the central nervous system (CNS). The CNS is particularly vulnerable to the effects of ethanol during prenatal development.

Format: Articles

Subject: Disorders, Reproduction

The Discovery of Fetal Alcohol Syndrome

The term Fetal Alcohol Syndrome (FAS) was first published in 1973 in an article published in the British medical journal The Lancet. In that article, a group of pediatricians and psychiatrists at the University of Washington Medical School helped to define the morphological defects and developmental delays that can affect children born to alcoholic mothers. Those observations include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing brain that can result in behavioral, learning, and cognitive abnormalities.

Format: Articles

Subject: Disorders, Reproduction

Paternal Sperm Telomere Elongation and Its Impact on Offspring Fitness

Telomeres are structures at the ends of DNA strands that get longer in the DNA of sperm cells as males age. That phenomenon is different for most other types of cells, for which telomeres get shorter as organisms age. In 1992, scientists showed that telomere length (TL) in sperm increases with age in contrast to most cell of most other types. Telomeres are the protective caps at the end of DNA strands that preserve chromosomal integrity and contribute to DNA length and stability.

Format: Articles

Subject: Theories

Andrew Francis Dixon (1868-1936)

Andrew Francis Dixon studied human anatomy and egg cells at the turn of the twentieth century in Ireland and Great Britain. Dixon studied the sensory and motor nervous system of the face, the cancellous bone tissue of the femur, supernumerary kidneys, and the urogenital system. In 1927 Dixon described a mature human ovarian follicle. This follicle, Dixon noted, contained an immature human egg cell (oocyte) with a visible first polar body and the beginnings of the second polar body.

Format: Articles

Subject: People

Harald zur Hausen (1936–)

Harald zur Hausen studied viruses and discovered that certain strains of the human papilloma virus (HPV), a sexually transmitted disease, can cause cervical cancer, in Europe during the twentieth and twenty-first centuries. Zur Hausen spent his research career identifying the viruses that cause diseases, particularly cancer-causing viruses (oncoviruses). He primarily focused on HPV and cervical cancer. Zur Hausen hypothesized that HPV was cancerous and discovered that two strains, HPV 16 and 18, caused cervical cancer.

Format: Articles

Subject: People

Stanley Alan Plotkin's Development of a Rubella Vaccine (1969)

In the US during the late 1960s, Stanley Alan Plotkin, John D. Farquhar, Michael Katz, and Fritz Buser isolated a strain of the infectious disease rubella and developed a rubella vaccine with a weakened, or attenuated, version of the virus strain. Rubella, also called German measles, is a highly contagious disease caused by the rubella virus that generally causes mild rashes and fever. However, in pregnant women, rubella infections can lead to developmental defects in their fetuses.

Format: Articles

Subject: Experiments

Hermaphrodites and the Medical Invention of Sex (1998), by Alice Domurat Dreger

Hermaphrodites and the Medical Invention of Sex, by historian of science Alice Domurat Dreger, was published in 1998 by Harvard University Press. In the book, Dreger describes how many doctors and scientists treated human hermaphrodites from the late nineteenth century to the early twentieth century. She states that during this time period, many physicians and scientists struggled to determine the nature sex, and to support a classification of sex as male or female, many physicians and scientists resorted to viewing a person's gonads for identification of his or her sex.

Format: Articles

Subject: Publications, Theories, Disorders