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Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation.
A birth defect, also known as a congenital disorder, 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.
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.
Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.
Large for gestational age (LGA) is a term used to describe infants that are born with an abnormally high weight, specifically in the 90th percentile or above, compared to other babies of the same developmental age. Macrosomia is a similar term that describes excessive birth weight, but refers to an absolute measurement, regardless of gestational age. Typically the threshold for diagnosing macrosomia is a body weight between 4,000 and 4,500 grams, or more, measured at birth, but there are difficulties reaching a universal agreement of this definition.
Prenatal development includes the development of the embryo and of the fetus during a viviparous animal's gestation. Prenatal development starts with fertilization, in the germinal stage of embryonic development, and continues in fetal development until birth.
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops.
Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. Meckel–Gruber syndrome is named for Johann Meckel and Georg Gruber.
Hemoglobin Barts, abbreviated Hb Barts, is an abnormal type of hemoglobin that consists of four gamma globins. It is moderately insoluble, and therefore accumulates in the red blood cells. Hb Barts has an extremely high affinity for oxygen, so it cannot release oxygen to the tissue. Therefore, this makes it an inefficient oxygen carrier. As an embryo develops, it begins to produce alpha-globins at weeks 5–6 of development. When both of the HBA1 and HBA2 genes which code for alpha globins becomes dysfunctional, the affected fetuses will have difficulty in synthesizing a functional hemoglobin. As a result, gamma chains will accumulate and form four gamma globins. These gamma globins bind to form hemoglobin Barts. It is produced in the disease alpha-thalassemia and in the most severe of cases, it is the only form of hemoglobin in circulation. In this situation, a fetus will develop hydrops fetalis and normally die before or shortly after birth, unless intrauterine blood transfusion is performed.
Fetal echocardiography, or Fetal echocardiogram, is the name of the test used to diagnose cardiac conditions in the fetal stage. Cardiac defects are amongst the most common birth defects. Their diagnosis is important in the fetal stage as it might help provide an opportunity to plan and manage the baby as and when the baby is born. Not all pregnancies need to undergo fetal echo.
A fetus or foetus is the unborn offspring that develops from an animal embryo. Following embryonic development, the fetal stage of development takes place. In human prenatal development, fetal development begins from the ninth week after fertilization and continues until birth. Prenatal development is a continuum, with no clear defining feature distinguishing an embryo from a fetus. However, a fetus is characterized by the presence of all the major body organs, though they will not yet be fully developed and functional and some not yet situated in their final anatomical location.
Persistent fetal vasculature(PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully developed. Defects which arise from this lack of vascular regression are diverse; as a result, the presentation, symptoms, and prognosis of affected patients vary widely, ranging from clinical insignificance to irreversible blindness. The underlying structural causes of PFV are considered to be relatively common, and the vast majority of cases do not warrant additional intervention. When symptoms do manifest, however, they are often significant, causing detrimental and irreversible visual impairment. Persistent fetal vasculature heightens the lifelong risk of glaucoma, cataracts, intraocular hemorrhages, and Retinal detachments, accounting for the visual loss of nearly 5% of the blind community in the developed world. In diagnosed cases of PFV, approximately 90% of patients with a unilateral disease have associated poor vision in the affected eye.
Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid malformation (CCAM), is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is unknown. It occurs in approximately 1 in every 30,000 pregnancies.
Occasionally, there is a single umbilical artery (SUA) present in the umbilical cord, as opposed to the usual two. This is sometimes also called a two-vessel umbilical cord, or two-vessel cord. Approximately, this affects between 1 in 100 and 1 in 500 pregnancies, making it the most common umbilical abnormality. Its cause is not known.
Limb body wall complex (LBWC) is a rare and severe syndrome of congenital malformations involving craniofacial and abdominal anomalies. LBWC emerges during early fetal development and is fatal. The cause of LBWC is unknown.
Alcohol use in pregnancy includes use of alcohol at any time during gestation, including the time before a mother-to-be is aware that she is pregnant. Alcohol use at some point during pregnancy is common and appears to be rising in prevalence in the United States.
Wladimir Wertelecki is a Pediatrician and Medical Geneticist who in 1974 established one of the first free-standing Departments of Medical Genetics at the new South Alabama University College of Medicine in Mobile, Alabama, U.S.A. Since 1996 and following his retirement as Chairman and Emeritus Professor of Medical Genetics, Pediatrics, and Pathology, he has continued his investigations of developmental anomalies and their prevention as a Project Scientist at the Department of Pediatrics, University of California San Diego. Since 1996, his research has focused mainly on alcohol and ionizing radiation impacts on congenital anomalies. He is the author over 135 scientific reports. In 2000, he established the OMNI-Net Ukraine Programs to investigate reproductive risks posed by exposures to alcohol and Chornobyl ionizing radiation. OMNI-Net Ukraine established a population-based registry for the epidemiological surveillance of congenital anomalies. It qualified to become full member of EUROCAT, a network of over 38 such registries across Europe. OMNI-Net Ukraine is the sole full member of EUROCAT conducting such investigations in regions formerly ruled by the USSR. OMNI-Net Ukraine also implements a variety of collaborative investigations with experts from UCSD, Emory, and other Universities sponsored by the Collaborative Initiative on Fetal Alcohol Spectrum Disorders funded by then National Institute on Alcohol Abuse and Alcoholism (NIH). Many components of the OMNI-Net Ukraine programs introduced by Wertelecki were previously implemented in Alabama. He established a regional network of clinics across southern Alabama and West Florida and in 1978 organized the Southern Genetic Group, which expanded into the South-Eastern Regional Genetics Group, enhancing genetic services in six states. Wertelecki also contributed to the efforts by local Native-Americans to gain Federal Recognition as Native-Americans in Alabama. In 1992, he made a presentation to the US Senate regarding the reproductive risks posed by the Chornobyl radiation. Following an initial sponsorship by USAID, he established OMNI-Net programs in Ukraine, a not-for-profit network to provide training and to engage Ukrainian professionals to conduct monitoring of the frequency of birth defects. OMNI-Net teams promptly detected an epidemic of spina bifida and associated malformations collectively known as neural tube defects (NTD). The frequency of these malformations and the associated child mortality are persistently the highest in Europe. From the start, OMNI-Net advocates for Ukrainian authorities to introduce folic acid fortification programs, a measure that will significantly reduce the epidemic and related mortality. Flour fortification with folic acid is safe, effective and affordable as shown by implementations adopted by 80 countries. Currently, a legislative initiative to establish an NTD prevention program is under consideration by the Ukrainian National Parliament. OMNI-Net has also documented that thousands of pregnant women continue to accumulate in their bodies through eating, drinking, and inhaling radioactive elements (nuclides). Whole body counts of incorporated Cs-137 by pregnant women are much higher than in women residing away from Chornobyl radiation impacted regions. OMNI-Net teams seek national and international partners to elucidate the inherent risks of such facts. Although some reports state that Chornobyl radiation is not biologically harmful, OMNI-Net researchers note that such studies did not include pregnant women with known levels of incorporated nuclides. The association of incorporated levels of Cs-137 with prevalence of birth defects remains to be clarified. Another frequent known cause of birth defects in Ukraine is alcohol consumption by pregnant women. Since 2006, OMNI-Net has implemented an international initiative focused on fetal alcohol spectrum disorders. In summary, OMNI-Net is effectively a catalist for joint scientific collaborations of Ukrainian and International investigations.
Diabetic embryopathy refers to congenital maldevelopments that are linked to maternal diabetes. Prenatal exposure to hyperglycemia can result in spontaneous abortions, perinatal mortality, and malformations. Type 1 and Type 2 diabetic pregnancies both increase the risk of diabetes induced teratogenicity. The rate of congenital malformations is similar in Type 1 and 2 mothers because of increased adiposity and the age of women with type 2 diabetes. Genetic predisposition and different environmental factors both play a significant role in the development of diabetic embryopathy. Metabolic dysfunction in pregnant mothers also increases the risk of fetal malformations.
Ankyloblepharon is a medical condition, defined as the adhesion of the edges of the upper eyelid with the lower eyelid. Ankyloblepharon must be differentiated from blepharophimosis, in which palpebral aperture is reduced and there is telecanthus, but the eyelid margins are normal. Another condition similar to ankyloblepharon is symblepharon, in which the palpebral conjunctiva is attached to the bulbar conjunctiva. Recognition of ankyloblepharon necessitates systemic examination to detect associated abnormalities such as genitourinary and cardiac abnormalities and syndactyly.
References
- ↑ "EUROCAT".
- ↑ "International Relations – European Studies - Metropolitní univerzita Praha". www.mup.cz (in Czech). Retrieved 7 January 2024.
- ↑ Boyd, PA; Haeusler, M; Barisic, I; Loane, M.; Garne, E.; Dolk, H. (March 2011). "Paper 1: The EUROCAT network--organization and processes". Birth Defects Research, Part A . 91 Suppl 1 (S1): S2-15. doi:10.1002/bdra.20780. PMID 21384531.
- ↑ Kinsner-Ovaskainen, A.; Lanzoni, M.; Garne, E.; Loane, M.; Morris, J.K.; Neville, A.; Nicholl, C.; Rankin, J.; Rissmann, A.; Tucker, D.; Martin, S. (2018). "A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration". European Journal of Medical Genetics . 61 (9): 513–517. doi: 10.1016/j.ejmg.2018.03.008 . PMID 29597096. S2CID 4473923.
- ↑ "EU RD Platform".
- 1 2 "EUROCAT Guidelines".
- ↑ "EUROCAT prevalence tables".
- ↑ "EUROCAT prenatal detection rates".
- ↑ "EUROCAT annual statistical monitoring".
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