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Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by teratogens. Teratogens are substances that may cause non-heritable birth defects via a toxic effect on an embryo or fetus. Defects include malformations, disruptions, deformations, and dysplasia that may cause stunted growth, delayed mental development, or other congenital disorders that lack structural malformations. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult. The extent to which teratogens will impact an embryo is dependent on several factors, such as how long the embryo has been exposed, the stage of development the embryo was in when exposed, the genetic makeup of the embryo, and the transfer rate of the teratogen.
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception. Strictly speaking, the Greek term translates as "without a brain", but it is accepted that children born with this disorder usually only lack a telencephalon, the largest part of the brain consisting mainly of the cerebral hemispheres, including the neocortex, which is responsible for cognition. The remaining structure is usually covered only by a thin layer of membrane—skin, bone, meninges, etc., are all lacking. With very few exceptions, infants with this disorder do not survive longer than a few hours or days after birth.
Iniencephaly is a rare type of cephalic disorder characterised by three common characteristics: a defect to the occipital bone, spina bifida of the cervical vertebrae and retroflexion of the head on the cervical spine. Stillbirth is the most common outcome, with a few rare examples of live birth, after which death invariably occurs within a short time.
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders.
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.
Late termination of pregnancy, also referred to politically as third trimester abortion, describes the termination of pregnancy by inducing labor during a late stage of gestation. In this context, late is not precisely defined, and different medical publications use varying gestational age thresholds. As of 2015 in the United States, more than 90% of abortions occur before the 13th week, 1.3% of abortions in the United States took place after the 21st week, and less than 1% occur after 24 weeks.
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.
Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly.
Potter sequence is the atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus. It includes clubbed feet, pulmonary hypoplasia and cranial anomalies related to the oligohydramnios. Oligohydramnios is the decrease in amniotic fluid volume sufficient to cause deformations in morphogenesis of the baby.
Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person who is exposed to alcohol during gestation. FASD affects 1 in 20 Americans, but is highly mis- and under-diagnosed.
Fetal viability is the ability of a human fetus to survive outside the uterus. Viability depends upon factors such as birth weight, gestational age, and the availability of advanced medical care. In low-income countries, more than 90% of extremely preterm newborns die due to a lack of said medical care; in high-income countries, the vast majority of these newborns survive.
Thrifty phenotype refers to the correlation between low birth weight of neonates and the increased risk of developing metabolic syndromes later in life, including type 2 diabetes and cardiovascular diseases. Although early life undernutrition is thought to be the key driving factor to the hypothesis, other environmental factors have been explored for their role in susceptibility, such as physical inactivity. Genes may also play a role in susceptibility of these diseases, as they may make individuals predisposed to factors that lead to increased disease risk.
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain, in the embryo is disrupted. The result of this is that the fibers that would otherwise form the corpus callosum are instead longitudinally oriented along the ipsilateral ventricular wall and form structures called Probst bundles.
Neurodevelopmental disorders are a group of mental conditions affecting the development of the nervous system, which includes the brain and spinal cord. According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (DSM-5) published in 2013, these conditions generally appear in early childhood, usually before children start school, and can persist into adulthood. The key characteristic of all these disorders is that they negatively impact a person's functioning in one or more domains of life depending on the disorder and deficits it has caused. All of these disorders and their levels of impairment exist on a spectrum, and affected individuals can experience varying degrees of symptoms and deficits, despite having the same diagnosis.
Pulmonary hypoplasia is an incomplete development of the lungs, resulting in an abnormally low number or small size of bronchopulmonary segments or alveoli. A congenital malformation, most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs. Primary (idiopathic) pulmonary hypoplasia is rare and usually not associated with other maternal or fetal abnormalities.
A pre-existing disease in pregnancy is a disease that is not directly caused by the pregnancy, in contrast to various complications of pregnancy, but which may become worse or be a potential risk to the pregnancy. A major component of this risk can result from necessary use of drugs in pregnancy to manage the disease.
A neonatal seizure is a seizure in a baby younger than age 4-weeks that is identifiable by an electrical recording of the brain. It is an occurrence of abnormal, paroxysmal, and persistent ictal rhythm with an amplitude of 2 microvolts in the electroencephalogram,. These may be manifested in form of stiffening or jerking of limbs or trunk. Sometimes random eye movements, cycling movements of legs, tonic eyeball movements, and lip-smacking movements may be observed. Alteration in heart rate, blood pressure, respiration, salivation, pupillary dilation, and other associated paroxysmal changes in the autonomic nervous system of infants may be caused due to these seizures. Often these changes are observed along with the observance of other clinical symptoms. A neonatal seizure may or may not be epileptic. Some of them may be provoked. Most neonatal seizures are due to secondary causes. With hypoxic ischemic encephalopathy being the most common cause in full term infants and intraventricular hemorrhage as the most common cause in preterm infants.
A termination for medical reasons (TFMR) is an induced abortion motivated by medical indications involving the fetus or mother. In some countries, health risks are the only basis for obtaining a legal abortion. Prenatal screening can allow early diagnosis, and abortion if desired or necessary. Some medical organizations advocate the offer of diagnostic testing by chorionic villi sampling, and amniocentesis to all pregnant women, as a matter of course.
Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly with lissencephaly. Microlissencephaly is a heterogeneous disorder, i.e. it has many different causes and a variable clinical course. Microlissencephaly is a malformation of cortical development (MCD) that occurs due to failure of neuronal migration between the third and fifth month of gestation as well as stem cell population abnormalities. Numerous genes have been found to be associated with microlissencephaly, however, the pathophysiology is still not completely understood.
References
- ↑ "Recognition of Life Extinct by Ambulance Clinicians" (PDF). warwick.ac.uk. October 2006.
- ↑ Hopson, Laura R.; Hirsh, Emily; Delgado, Joao; Domeier, Robert M.; McSwain, Norman E. Jr; Krohmer, Jon (January 2003). "Guidelines for Withholding or Termination of Resuscitation in Prehospital Traumatic Cardiopulmonary Arrest: Joint Position Statement of the National Association of EMS Physicians and the American College of Surgeons Committee on Trauma". Journal of the American College of Surgeons. 196 (1): 106–112. doi:10.1016/S1072-7515(02)01668-X. ISSN 1879-1190. PMID 12517561.
- ↑ Wilkinson, Dominic; de Crespigny, Lachlan; Xafis, Vicki (October 2014). "Ethical language and decision-making for prenatally diagnosed lethal malformations". Seminars in Fetal & Neonatal Medicine. 19 (5): 306–311. doi:10.1016/j.siny.2014.08.007. ISSN 1744-165X. PMC 4339700 . PMID 25200733.
- ↑ Costa, Lúcia de Lourdes Ferreira da; Hardy, Ellen; Osis, Maria José Duarte; Faúndes, Anibal (2005). "Termination of Pregnancy for Fetal Abnormality Incompatible with Life: Women's Experiences in Brazil". Reproductive Health Matters. 13 (26): 139–146. doi: 10.1016/S0968-8080(05)26198-0 . ISSN 0968-8080. JSTOR 3776485. PMID 16291495. S2CID 10782601.
- ↑ "Herrera Beutler's 'miracle baby' gets kidney". The Columbian. 2023-10-10. Retrieved 2023-10-14.
- ↑ "Survival of Rep. Herrera Beutler's child a celebrated case study". The Seattle Times. 2014-08-23. Retrieved 2023-10-14.
- ↑ Dickman, Holly; Fletke, Kyle; Redfern, Roberta E (2016-10-31). "Prolonged unassisted survival in an infant with anencephaly". BMJ Case Reports. 2016: bcr2016215986. doi:10.1136/bcr-2016-215986. ISSN 1757-790X. PMC 5093842 . PMID 27799226.