Jeffrey Weinzweig and his team, in the US at the turn of the twenty-first century, performed a series of experiments on fetal goats to study the feasibility of repairing cleft palates on organisms still in the womb. Weinzweig , a plastic surgeon who specialized in cleft palate repair, and his team developed a method to cause cleft palates in fetal goats that are similar to clefts that occur in human fetuses. Using their goat congenital model, the team developed a method to repair a congenital cleft palate in utero, or in the womb. The resultant goat newborns had fully developed palates without scarring and with minimal functional impairment. The researchers recommended that surgeons use their repair methods in humans to decrease the incidence of speech impairment commonly associated with cleft palate patients.
Polycystic ovarian syndrome or PCOS is one of the most common reproductive conditions in women, and its symptoms include cystic ovaries, menstrual irregularities, and elevated androgen or male sex hormone levels. During the 1930s, Irving Freiler Stein and Michael Leventhal identified the syndrome and its symptoms. Women who experience symptoms of PCOS may also experience secondary symptoms, including infertility and diabetes. Though estimates vary and the causes of the syndrome are not clear as of 2017, PCOS affects approximately ten percent of women of reproductive age. Women who suspect they have symptoms of PCOS should see a doctor, as early treatment may help prevent long-term implications such as infertility, diabetes, and some types of cancers.
Many difficulties can arise with a pregnancy even after the sperm successfully fertilizes the oocyte. A major problem occurs if the fertilized egg tries to implant before reaching its normal implantation site, the uterus. An ectopic pregnancy occurs when a fertilized egg implants anywhere other than in the uterus, most commonly in the fallopian tubes. Ectopic pregnancies cannot continue to term, so a physician must remove the developing embryo as early as possible. Although no longer a significant risk to the mother's life due to improved detection methods as well as treatment procedures following detection, ectopic pregnancies can still pose a major risk to the mother's health if not detected early. If the fallopian tube ruptures as a result of an ectopic pregnancy, the physician can either try to repair the fallopian tube or remove the damaged portion. Various risk factors predisposing women to a higher chance of ectopic pregnancy include fallopian tube scarring, damaged fallopian tubes due to past ectopic pregnancies, or an inflamed fallopian tube.
Bisphenol A (BPA) is an organic compound that was first synthesized by Aleksandr Dianin, a Russian chemist from St. Petersburg, in 1891. The chemical nomenclature of BPA is 2,2-bis (4-hydroxyphenyl) propane. The significance of this synthesized compound did not receive much attention until 1936, when two biochemists interested in endocrinology, Edward Dodds and William Lawson, discovered its ability to act as an estrogen agonist in ovariectomized, estrogen-deficient rats. Biochemists and endocrinologists found the results of Dodd and Lawson's experiment to be particularly important because at that early stage of research into hormones, it was still difficult to isolate naturally occurring hormones. Since then, BPA has proven to have complex developmental effects, but it has taken many researchers to sort out the details.
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.
Diprosopus is a congenital defect also known as craniofacial duplication. The exact description of diprosopus refers to a fetus with a single trunk, normal limbs, and facial features that are duplicated to a certain degree. A less severe instance is when the nose is duplicated and the eyes are spaced far apart. In the most extreme instances, the entire face is duplicated, hence the name diprosopus, which is Greek for two-faced. Fetuses with diprosopus often also lack brains (anencephaly), have neural tube defects, or heart malformations. In some caases, if the brain is formed, it may have duplicated structures. Most infants with diprosopus are stillborn and there are fewer than fifty cases documented since 1864.
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.
Prenatal alcohol (ethanol) exposure can have dramatic effects on the development of the central nervous system (CNS), including morphological abnormalities and an overall reduction in white matter of the brain. The impact of ethanol on neural stem cells such as radial glia (RG) has proven to be a significant cause of these defects, interfering with the creation and migration of neurons and glial cells during development. The impact of ethanol on RG can occur as early as three weeks after fertilization and can persist through the third trimester of pregnancy, interfering with intrinsic mechanisms and signaling pathways to impede cellular proliferation, differentiation, and survival.
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF). Tsui's research pinpointed the gene, some mutations to which cause CF, and it revealed the underlying disease mechanism. The CFTR gene encodes a protein in the cell membrane in epithelial tissues and affects multiple organ systems in the human body. Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content. Research on the CFTR mutation has shed light on the ways in which this gene is vital to normal human development.
In 1861, William John Little published, “On The Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities,” hereafter “Abnormal Parturition,” in the Transactions of the Obstetrical Society of London. In the article, Little discussed the causes and types of what he refers to as abnormal births, and theorized how those births affect an infant’s likelihood of exhibiting a deformity. Little defined abnormal births as those involving an atypical maternal or fetal presentation, such as a slow birthing process or a fetus exiting the birth canal feet first rather than head first. In his article, Little published one of the first definitional frameworks to describe a condition causing rigidity and stiffness in the limbs that is often associated with birth-related trauma, which was then called Little’s disease, but is modernly known as spastic Cerebral Palsy.