Hydrops Fetalis
Endolymphatic Hydrops
Fetal Diseases
Parvovirus B19, Human
Blood Transfusion, Intrauterine
Erythroblastosis, Fetal
alpha-Thalassemia
Rh Isoimmunization
Hemoglobins, Abnormal
Erythema Infectiosum
Cystic Adenomatoid Malformation of Lung, Congenital
Prenatal Diagnosis
Polyhydramnios
Ultrasonography, Prenatal
Pregnancy
alpha-Globins
Hemoglobin H
Edema
Mucopolysaccharidosis VII
Phosphotransferases (Phosphomutases)
Thalassemia
Hypoalbuminemia
Gestational Age
Amniocentesis
Meniere Disease
Fatal Outcome
Fetal tachycardias: management and outcome of 127 consecutive cases. (1/193)
OBJECTIVE: To review the management and outcome of fetal tachycardia, and to determine the problems encountered with various treatment protocols. STUDY DESIGN: Retrospective analysis. SUBJECTS: 127 consecutive fetuses with a tachycardia presenting between 1980 and 1996 to a single tertiary centre for fetal cardiology. The median gestational age at presentation was 32 weeks (range 18 to 42). RESULTS: 105 fetuses had a supraventricular tachycardia and 22 had atrial flutter. Overall, 52 fetuses were hydropic and 75 non-hydropic. Prenatal control of the tachycardia was achieved in 83% of treated non-hydropic fetuses compared with 66% of the treated hydropic fetuses. Digoxin monotherapy converted most (62%) of the treated non-hydropic fetuses, and 96% survived through the neonatal period. First line drug treatment for hydropic fetuses was more diverse, including digoxin (n = 5), digoxin plus verapamil (n = 14), and flecainide (n = 27). The response rates to these drugs were 20%, 57%, and 59%, respectively, confirming that digoxin monotherapy is a poor choice for the hydropic fetus. Response to flecainide was faster than to the other drugs. Direct fetal treatment was used in four fetuses, of whom two survived. Overall, 73% (n = 38) of the hydropic fetuses survived. Postnatally, 4% of the non-hydropic group had ECG evidence of pre-excitation, compared with 16% of the hydropic group; 57% of non-hydropic fetuses were treated with long term anti-arrhythmics compared with 79% of hydropic fetuses. CONCLUSIONS: Non-hydropic fetuses with tachycardias have a very good prognosis with transplacental treatment. Most arrhythmias associated with fetal hydrops can be controlled with transplacental treatment, but the mortality in this group is 27%. At present, there is no ideal treatment protocol for these fetuses and a large prospective multicentre trial is required to optimise treatment of both hydropic and non-hydropic fetuses. (+info)Intrauterine management of fetal parvovirus B19 infection. (2/193)
OBJECTIVES: The aim of our study was to determine the outcome of pregnancies after intrauterine management of fetal parvovirus B19 infection. DESIGN: Retrospective study. SUBJECTS: A total of 37 cases of maternofetal parvovirus B19 infection, 35 of which were associated with hydrops fetalis, were referred to our tertiary level center between 1989 and 1996. With regard to fetal hydrops, no apparent cause other than parvovirus B19 infection was found in any patient. METHODS: In all patients, cordocentesis was performed to assess the degree of fetal anemia. When anemia was present, cordocentesis was followed by intrauterine transfusion with packed red cells into the umbilical vein. Further management depended on the degree of fetal anemia and gestational age and included follow-up fetal blood sampling/transfusion as well as ultrasound examinations as deemed appropriate. RESULTS: Packed red cell transfusion was performed in 30 patients with significant fetal anemia (Z-score 1.6-7.8 below the mean for gestational age). The fetal hemoglobin values ranged from 2.1 to 9.6 g/dl. Serum levels of platelets in the transfusion group were 9-228 x 10(9)/l with Z-scores in the range of < 1 to 3.8 below the mean. During treatment and follow-up, there were five intrauterine deaths (13.5%), one neonatal death (2.7%) and 31 live births (83.8%). CONCLUSIONS: Fetal parvovirus infection can lead to marked anemia and hydrops formation. Cordocentesis allows precise assessment of fetal anemia which can then be corrected by intravenous transfusion. Under this regimen, the outcome proved favorable in the majority of fetuses, even those that were severely anemic. (+info)Direct intrauterine fetal therapy in a case of bronchopulmonary sequestration associated with non-immune hydrops fetalis. (3/193)
Bronchopulmonary sequestration associated with non-immune hydrops fetalis is generally recognized as a uniformly fatal fetal condition without fetal surgical intervention. We describe here the first case of such a condition treated successfully with direct intrauterine fetal therapy using digoxin and frusemide. (+info)Endothelin concentrations in monochorionic twins with severe twin-twin transfusion syndrome. (4/193)
The objective of this study was to determine endothelin (ET-1) concentrations in monochorionic twin fetuses with and without twin-twin transfusion syndrome (TTTS). Fourteen monochorionic twin pregnancies complicated by TTTS and six without TTTS were studied. Matched maternal and fetal blood samples were obtained both in utero and at birth. Amniotic fluid samples were also collected from twin pairs. ET-1 concentrations were measured by radio-immunoassay. ET-1 concentrations in recipient fetuses were higher than in the donors both in utero(P < 0.001) and at birth (P < 0.01). Fetal concentrations of ET-1 in donors were similar to non-TTTS twins. Plasma ET-1 concentrations were significantly higher (P < 0.01) in recipient fetuses with severe hydrops than those with mild/no hydrops. Maternal concentrations of ET-1 were comparable in the two groups. Endothelin concentrations in recipient twins were 2(1/2) times higher than in their co-twins and this was related to the severity of hydrops. (+info)Prenatal diagnosis of parvovirus B19-induced hydrops fetalis by chemiluminescence in situ hybridization. (5/193)
Parvovirus B19 can be transmitted transplacentally from the infected mother to the fetus during pregnancy, and hydrops fetalis, abortion, or stillbirth can result. In our study we explored the use of chemiluminescence in situ hybridization to detect B19 DNA on cord blood cells, amniotic fluid cells, and pleuric fluid cells from several cases of hydrops fetalis. B19 DNA was detected by using digoxigenin-labeled probes immunoenzymatically visualized with the chemiluminescent adamantil-1,2-dioxetane phenyl phosphate substrate for alkaline phosphatase. The luminescent signal emitted from the hybridized probes was detected, analyzed, and measured with a high-performance, low-light-level imaging luminograph connected to an optical microscope and to a personal computer for the quantification and localization of the chemiluminescent emission inside individual cells. (+info)Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. (6/193)
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome with associated visceral and skeletal abnormalities. Alterations in the glypican-3 gene (GPC3), which is located on Xq26, have been implicated in the etiology of relatively milder cases of this disorder. Not all individuals with SGBS have demonstrated disruptions of the GPC3 locus, which raises the possibility that other loci on the X chromosome could be responsible for some cases of this syndrome. We have previously described a large family with a severe form of SGBS that is characterized by multiple anomalies, hydrops fetalis, and death within the first 8 wk of life. Using 25 simple tandem-repeat polymorphism markers spanning the X chromosome, we have localized the gene for this disorder to an approximately 6-Mb region of Xp22, with a maximum LOD score of 3.31 and with LOD scores <-2.0 for all of Xq. These results demonstrate that neither the GPC3 gene nor other genes on Xq26 are responsible for all cases of SGBS and that a second SGBS locus resides on Xp22. (+info)Parvovirus B19 infections. (7/193)
Infections caused by human parvovirus B19 can result in a wide spectrum of manifestations, which are usually influenced by the patient's immunologic and hematologic status. In the normal host, parvovirus infection can be asymptomatic or can result in erythema infectiosum or arthropathy. Patients with underlying hematologic and immunologic disorders who become infected with this virus are at risk for aplastic anemia. Hydrops fetalis and fetal death are complications of intrauterine parvovirus B19 infection. (+info)Atrial flutter in the perinatal age group: diagnosis, management and outcome. (8/193)
OBJECTIVES: The aim of this retrospective study was to evaluate perinatal atrial flutter (AF) and the efficacy of maternally administered antiarrhythmic agents, postpartum management and outcome. BACKGROUND: Perinatal AF is a potentially lethal arrhythmia, and management of this disorder is difficult and controversial. METHODS: Forty-five patients with documented AF were studied retrospectively. RESULTS: Atrial flutter was diagnosed prenatally in 44 fetuses and immediately postnatally in 1 neonate. Fetal hydrops was seen in 20 patients; 17 received maternal therapy, 2 were delivered and 1 was not treated because it had a severe nontreatable cardiac malformation. In the nonhydropic group of 24 patients, 18 were treated and the remaining 6 were delivered immediately. In the hydropic group, 10 received single-drug therapy (digoxin or sotalol) and 7 received multidrug therapy. In the nonhydropic group, 13 received a single drug (digoxin or sotalol) and 5 received multiple drugs. One patient with rapid 1:1 atrioventricular conduction (heart rate 480 beats/min) died in utero and another died due to a combination of severe hydrops because of the AF, sotalol medication, stenosis of the venous duct and hypoplastic placenta. Of the 43 live-born infants, 12 were in AF at birth. Electrical cardioversion was successful in eight of nine patients. No recurrences in AF have occurred beyond the neonatal period. Four patients with fetal flutter and hydrops showed significant neurological pathology immediately after birth. CONCLUSIONS: Fetal AF is a serious and threatening rhythm disorder, particularly when it causes hydrops, it may be associated with fetal death or neurological damage. Treatment is required and primarily aimed at reaching an adequate ventricular rate and preferably conversion to sinus rhythm. Digoxin failed in prevention of recurrence at time of delivery in a quarter of our patients, whereas with sotalol no recurrence of AF has been reported, suggesting that class III agents may be the future therapy. Once fetuses with AF survive without neurological pathology, their future is good and prophylaxis beyond the neonatal period is unnecessary. (+info)Hydrops Fetalis is a serious condition characterized by the accumulation of excessive fluid in two or more fetal compartments, including the abdomen (ascites), around the heart (pericardial effusion), and/or within the lungs (pleural effusion). This accumulation can also affect the skin, causing it to become edematous. Hydrops Fetalis is often associated with various underlying causes, such as chromosomal abnormalities, congenital infections, genetic disorders, and structural defects that impair the fetus's ability to maintain fluid balance. In some cases, the cause may remain unknown. The prognosis for Hydrops Fetalis is generally poor, with a high mortality rate, although early detection and appropriate management can improve outcomes in certain situations.
Endolymphatic hydrops is a term used to describe the abnormal accumulation of fluid (endolymph) within the inner ear. This condition is most commonly associated with Meniere's disease, but can also be seen in other disorders that affect the inner ear.
The inner ear is made up of two main parts: the cochlea, which is responsible for hearing, and the vestibular system, which helps to control balance. Both of these systems are filled with fluid, including endolymph, which is a watery fluid that bathes the sensory hair cells in these structures.
In endolymphatic hydrops, there is an overproduction or decreased absorption of endolymph, leading to an abnormal buildup of fluid within the inner ear. This can cause a variety of symptoms, including vertigo (a spinning sensation), tinnitus (ringing in the ears), hearing loss, and a feeling of fullness or pressure in the affected ear.
The exact cause of endolymphatic hydrops is not fully understood, but it is thought to be related to changes in the inner ear's fluid balance. Treatment options may include medications to help control symptoms, as well as surgical procedures to relieve pressure on the inner ear.
Fetal diseases are medical conditions or abnormalities that affect a fetus during pregnancy. These diseases can be caused by genetic factors, environmental influences, or a combination of both. They can range from mild to severe and may impact various organ systems in the developing fetus. Examples of fetal diseases include congenital heart defects, neural tube defects, chromosomal abnormalities such as Down syndrome, and infectious diseases such as toxoplasmosis or rubella. Fetal diseases can be diagnosed through prenatal testing, including ultrasound, amniocentesis, and chorionic villus sampling. Treatment options may include medication, surgery, or delivery of the fetus, depending on the nature and severity of the disease.
Parvovirus B19, Human is a single-stranded DNA virus that primarily infects humans. It belongs to the Parvoviridae family and Erbovirus genus. This virus is the causative agent of erythema infectiosum, also known as fifth disease, a mild, self-limiting illness characterized by a facial rash and occasionally joint pain or inflammation.
Parvovirus B19 has a strong tropism for erythroid progenitor cells in the bone marrow, where it replicates and causes temporary suppression of red blood cell production (aplastic crisis) in individuals with underlying hemolytic disorders such as sickle cell disease or spherocytosis.
Additionally, Parvovirus B19 can cause more severe complications in immunocompromised individuals, pregnant women, and fetuses. Infection during pregnancy may lead to hydrops fetalis, anemia, or even fetal death, particularly in the first and second trimesters. Transmission of the virus occurs primarily through respiratory droplets and occasionally via blood transfusions or vertical transmission from mother to fetus.
Parvoviridae infections refer to diseases caused by viruses belonging to the Parvoviridae family. These viruses are known to infect a wide range of hosts, including humans, animals, and insects. The most well-known member of this family is the human parvovirus B19, which is responsible for a variety of clinical manifestations such as:
1. Erythema infectiosum (Fifth disease): A common childhood exanthem characterized by a "slapped cheek" rash and a lace-like rash on the extremities.
2. Transient aplastic crisis: A sudden and temporary halt in red blood cell production, which can lead to severe anemia in individuals with underlying hematologic disorders.
3. Hydrops fetalis: Intrauterine death due to severe anemia caused by parvovirus B19 infection in pregnant women, leading to heart failure and widespread fluid accumulation in the fetus.
Parvoviruses are small, non-enveloped viruses with a single-stranded DNA genome. They primarily infect and replicate within actively dividing cells, making them particularly harmful to rapidly proliferating tissues such as bone marrow and fetal tissues. In addition to parvovirus B19, other Parvoviridae family members can cause significant diseases in animals, including cats, dogs, and livestock.
Intrauterine blood transfusion (IUT) is a medical procedure in which blood is transfused into the fetal circulation through the umbilical vein while the fetus is still in the uterus. This procedure is typically performed to treat severe anemia in the fetus, most commonly caused by hemolytic disease of the newborn due to Rh incompatibility or ABO incompatibility between the mother and fetus.
During the procedure, ultrasound guidance is used to insert a thin needle through the mother's abdomen and uterus and into the umbilical vein of the fetus. The blood is then transfused slowly, allowing the fetal body to adjust to the increased volume. The procedure may need to be repeated every 2-4 weeks until the baby is mature enough for delivery.
IUT is a highly specialized procedure that requires significant expertise and experience in maternal-fetal medicine and interventional radiology. It carries risks such as preterm labor, infection, fetal bradycardia (abnormally slow heart rate), and fetal loss, but it can be life-saving for the fetus when performed appropriately.
Erythroblastosis, fetal is a medical condition that occurs in the fetus or newborn when there is an incompatibility between the fetal and maternal blood types, specifically related to the Rh factor or ABO blood group system. This incompatibility leads to the destruction of the fetal red blood cells by the mother's immune system, resulting in the release of bilirubin, which can cause jaundice, anemia, and other complications.
In cases where the mother is Rh negative and the fetus is Rh positive, the mother may develop antibodies against the Rh factor during pregnancy or after delivery, leading to hemolysis (breakdown) of the fetal red blood cells in subsequent pregnancies if preventive measures are not taken. This is known as hemolytic disease of the newborn (HDN).
Similarly, incompatibility between the ABO blood groups can also lead to HDN, although it is generally less severe than Rh incompatibility. In this case, the mother's immune system produces antibodies against the fetal red blood cells, leading to their destruction and subsequent complications.
Fetal erythroblastosis is a serious condition that can lead to significant morbidity and mortality if left untreated. Treatment options include intrauterine transfusions, phototherapy, and exchange transfusions in severe cases. Preventive measures such as Rh immune globulin (RhIG) injections can help prevent the development of antibodies in Rh-negative mothers, reducing the risk of HDN in subsequent pregnancies.
Alpha-thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by deletions or mutations in the genes that produce the alpha-globin chains of hemoglobin.
There are several types of alpha-thalassemia, ranging from mild to severe. The most severe form, called hydrops fetalis, occurs when all four alpha-globin genes are deleted or mutated. This can cause stillbirth or death shortly after birth due to heart failure and severe anemia.
Less severe forms of alpha-thalassemia can cause mild to moderate anemia, which may be asymptomatic or associated with symptoms such as fatigue, weakness, and jaundice. These forms of the disorder are more common in people from Mediterranean, Southeast Asian, and African backgrounds.
Treatment for alpha-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, or occasionally stem cell transplantation.
Rh isoimmunization is a condition that occurs when an Rh-negative individual (usually a woman) develops an immune response to the Rh-positive blood of another individual (usually a fetus during pregnancy or a transfused blood). The Rh-negative person's immune system recognizes the Rh-positive blood as foreign and produces antibodies against it. This sensitization can lead to hemolytic disease of the newborn if the mother becomes pregnant with another Rh-positive fetus, as the maternal antibodies can cross the placenta and attack the fetal red blood cells, potentially causing anemia, jaundice, or more severe complications.
The first exposure to Rh-positive blood typically does not cause a significant reaction because the mother's immune system has not yet produced enough antibodies. However, subsequent exposures can lead to increasingly severe reactions due to the presence of pre-existing antibodies. Preventive measures such as administering Rh immunoglobulin (RhIg) to Rh-negative women during pregnancy and after delivery help prevent sensitization and reduce the risk of hemolytic disease of the newborn.
Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).
Erythema infectiosum is a viral infection commonly known as "fifth disease." It is caused by the human parvovirus B19 and primarily affects children. The characteristic symptom of erythema infectiosum is a distinctive red rash on the cheeks, which gives the appearance of having been slapped, hence one of its other names, "slapped cheek syndrome." After a few days, the rash may spread to the arms, legs, and trunk, often in a lacy or net-like pattern. The rash is usually not itchy or painful.
In addition to the rash, people with erythema infectiosum may experience mild flu-like symptoms such as fever, headache, and fatigue. Some individuals may also develop joint pain and swelling, particularly adolescents and adults. In most cases, erythema infectiosum is a self-limiting illness that resolves within one to three weeks without specific treatment. However, the rash may come and go for several weeks, especially when exposed to sunlight, heat, or emotional stress.
Erythema infectiosum is usually spread through respiratory droplets when an infected person coughs or sneezes. It can also be transmitted through blood transfusions and from mother to fetus during pregnancy. While most cases of erythema infectiosum are mild, the infection can cause more severe complications in people with weakened immune systems, sickle cell disease, or chronic hemolytic anemia. Pregnant women who contract erythema infectiosum may have a higher risk of miscarriage, stillbirth, or premature delivery, especially during the first half of pregnancy.
Fetal death, also known as stillbirth or intrauterine fetal demise, is defined as the death of a fetus at 20 weeks of gestation or later. The criteria for defining fetal death may vary slightly by country and jurisdiction, but in general, it refers to the loss of a pregnancy after the point at which the fetus is considered viable outside the womb.
Fetal death can occur for a variety of reasons, including chromosomal abnormalities, placental problems, maternal health conditions, infections, and umbilical cord accidents. In some cases, the cause of fetal death may remain unknown.
The diagnosis of fetal death is typically made through ultrasound or other imaging tests, which can confirm the absence of a heartbeat or movement in the fetus. Once fetal death has been diagnosed, medical professionals will work with the parents to determine the best course of action for managing the pregnancy and delivering the fetus. This may involve waiting for labor to begin naturally, inducing labor, or performing a cesarean delivery.
Experiencing a fetal death can be a very difficult and emotional experience for parents, and it is important for them to receive supportive care from their healthcare providers, family members, and friends. Grief counseling and support groups may also be helpful in coping with the loss.
Hydrothorax is a medical term that refers to the abnormal accumulation of serous fluid in the pleural space, which is the potential space between the lungs and the chest wall. This condition often results from various underlying pathological processes such as liver cirrhosis, heart failure, or kidney disease, where there is an imbalance in the body's fluid regulation leading to the accumulation of fluid in the pleural cavity. The presence of hydrothorax can cause respiratory distress and other symptoms related to lung function impairment.
Congenital Cystic Adenomatoid Malformation (CCAM) of the lung is a rare developmental anomaly of the lungs that affects the terminal ends of the bronchus. It is characterized by the presence of abnormal masses or nodules filled with mucus or air-filled cysts in the lung tissue. These malformations are typically present at birth but may not cause any symptoms until later in life, if at all.
CCAMs are classified into three types based on their size, location, and the number of cysts present. Type I CCAMs have one or more large cysts (greater than 2 cm in diameter), type II CCAMs have multiple small cysts (less than 1 cm in diameter), and type III CCAMs are solid masses without any visible cysts.
CCAMs can cause a range of symptoms, including respiratory distress, coughing, wheezing, recurrent lung infections, and difficulty gaining weight. In severe cases, they may lead to heart failure or fetal hydrops (a condition characterized by fluid accumulation in the fetus).
The diagnosis of CCAMs is typically made through prenatal ultrasound or imaging studies such as CT scans or MRIs after birth. Treatment usually involves surgical removal of the affected lung tissue, which can be done safely with minimal risk to the child's health and development.
Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.
Polyhydramnios is a medical condition characterized by an excessive accumulation of amniotic fluid in the sac surrounding the fetus during pregnancy, typically defined as an amniotic fluid index (AFI) greater than 24 cm or a single deepest pocket (SDP) measurement of more than 8 cm. It occurs in approximately 1-2% of pregnancies and can be associated with various maternal, fetal, and genetic conditions. If left untreated, polyhydramnios may increase the risk of premature labor, premature rupture of membranes, and other pregnancy complications. Proper diagnosis and management are essential to ensure a healthy pregnancy outcome.
Prenatal ultrasonography, also known as obstetric ultrasound, is a medical diagnostic procedure that uses high-frequency sound waves to create images of the developing fetus, placenta, and amniotic fluid inside the uterus. It is a non-invasive and painless test that is widely used during pregnancy to monitor the growth and development of the fetus, detect any potential abnormalities or complications, and determine the due date.
During the procedure, a transducer (a small handheld device) is placed on the mother's abdomen and moved around to capture images from different angles. The sound waves travel through the mother's body and bounce back off the fetus, producing echoes that are then converted into electrical signals and displayed as images on a screen.
Prenatal ultrasonography can be performed at various stages of pregnancy, including early pregnancy to confirm the pregnancy and detect the number of fetuses, mid-pregnancy to assess the growth and development of the fetus, and late pregnancy to evaluate the position of the fetus and determine if it is head down or breech. It can also be used to guide invasive procedures such as amniocentesis or chorionic villus sampling.
Overall, prenatal ultrasonography is a valuable tool in modern obstetrics that helps ensure the health and well-being of both the mother and the developing fetus.
Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.
Alpha-globins are a type of globin protein that combine to form the alpha-globin chains of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four globin chains, two alpha-globin chains and two beta-globin chains, that surround a heme group. The alpha-globin genes are located on chromosome 16 and are essential for normal hemoglobin function. Mutations in the alpha-globin genes can lead to various forms of hemoglobin disorders such as alpha-thalassemia.
Hemoglobin H (Hb H) is a type of abnormal hemoglobin that can occur in individuals with certain genetic disorders, such as hemoglobinopathies. It is formed when four beta-globin chains come together, instead of the usual two alpha and two beta chains found in normal adult hemoglobin (Hb A).
This abnormal structure can result from a mutation that causes the absence or deficiency of alpha-globin chains, leading to an excess of beta-globin chains. Hemoglobin H is often associated with conditions such as thalassemia, particularly when there is a severe deficiency of alpha-globin chain production (alpha-thalassemia).
Hemoglobin H can cause hemolytic anemia, which means that the red blood cells are destroyed prematurely. The severity of the condition depends on the degree of imbalance between alpha and beta chains and other genetic factors. Symptoms may include fatigue, jaundice, and splenomegaly (enlarged spleen).
Edema is the medical term for swelling caused by excess fluid accumulation in the body tissues. It can affect any part of the body, but it's most commonly noticed in the hands, feet, ankles, and legs. Edema can be a symptom of various underlying medical conditions, such as heart failure, kidney disease, liver disease, or venous insufficiency.
The swelling occurs when the capillaries leak fluid into the surrounding tissues, causing them to become swollen and puffy. The excess fluid can also collect in the cavities of the body, leading to conditions such as pleural effusion (fluid around the lungs) or ascites (fluid in the abdominal cavity).
The severity of edema can vary from mild to severe, and it may be accompanied by other symptoms such as skin discoloration, stiffness, and pain. Treatment for edema depends on the underlying cause and may include medications, lifestyle changes, or medical procedures.
An "eugenic abortion" is not a medical term, but rather a descriptive phrase that combines two concepts: eugenics and abortion.
Eugenics refers to the belief and practice of improving the human species by encouraging reproduction of individuals with desired traits and preventing reproduction of those with undesired traits. This concept has been widely criticized for its potential to be used as a tool for discrimination and oppression.
Abortion, on the other hand, is the medical procedure to end a pregnancy before the fetus can survive outside the womb.
A "eugenic abortion," therefore, generally refers to the practice of terminating a pregnancy based on the perceived genetic traits or characteristics of the fetus, such as disability, race, or sex. This phrase is often used in discussions about the ethics and morality of selective abortions, and it raises important questions about discrimination, reproductive rights, and medical ethics. It's worth noting that the vast majority of abortions are not performed for eugenic reasons, but rather due to a variety of personal, medical, and socioeconomic factors.
Mucopolysaccharidosis (MPS) VII, also known as Sly syndrome, is a rare genetic disorder caused by the deficiency of the enzyme beta-glucuronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), or mucopolysaccharides, in the body. When this enzyme is not present in sufficient amounts, GAGs accumulate in various tissues and organs, leading to progressive damage.
The symptoms of MPS VII can vary widely, but often include coarse facial features, short stature, skeletal abnormalities, hearing loss, heart problems, and intellectual disability. Some individuals with MPS VII may also have cloudy corneas, enlarged liver and spleen, and difficulty breathing due to airway obstruction. The severity of the condition can range from mild to severe, and life expectancy is often reduced in those with more severe symptoms.
MPS VII is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Treatment for MPS VII typically involves enzyme replacement therapy, which can help to slow down the progression of the disease and improve some symptoms. However, there is currently no cure for this condition.
A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.
Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.
There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.
Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.
Hypoalbuminemia is a medical condition characterized by having lower than normal levels of albumin in the blood. Albumin is a type of protein produced by the liver, and it plays a crucial role in maintaining oncotic pressure (the force that keeps fluid inside blood vessels) and transporting various substances throughout the body.
A serum albumin level below 3.5 g/dL (grams per deciliter) is generally considered hypoalbuminemia, although some laboratories may define it as a level below 3.4 g/dL or even lower. This condition can be caused by various factors, including liver disease, malnutrition, kidney disease, inflammation, and protein-losing enteropathy (a disorder that causes excessive loss of protein in the gastrointestinal tract).
Hypoalbuminemia is often associated with poorer clinical outcomes in several medical conditions, such as increased risk of infection, longer hospital stays, and higher mortality rates. It's essential to identify and address the underlying cause of hypoalbuminemia for appropriate treatment and improved patient outcomes.
Gestational age is the length of time that has passed since the first day of the last menstrual period (LMP) in pregnant women. It is the standard unit used to estimate the age of a pregnancy and is typically expressed in weeks. This measure is used because the exact date of conception is often not known, but the start of the last menstrual period is usually easier to recall.
It's important to note that since ovulation typically occurs around two weeks after the start of the LMP, gestational age is approximately two weeks longer than fetal age, which is the actual time elapsed since conception. Medical professionals use both gestational and fetal age to track the development and growth of the fetus during pregnancy.
Amniocentesis is a medical procedure in which a small amount of amniotic fluid, which contains fetal cells, is withdrawn from the uterus through a hollow needle inserted into the abdomen of a pregnant woman. This procedure is typically performed between the 16th and 20th weeks of pregnancy.
The main purpose of amniocentesis is to diagnose genetic disorders and chromosomal abnormalities in the developing fetus, such as Down syndrome, Edwards syndrome, and neural tube defects. The fetal cells obtained from the amniotic fluid can be cultured and analyzed for various genetic characteristics, including chromosomal structure and number, as well as specific gene mutations.
Amniocentesis carries a small risk of complications, such as miscarriage, infection, or injury to the fetus. Therefore, it is generally offered to women who have an increased risk of having a baby with a genetic disorder or chromosomal abnormality, such as those over the age of 35, those with a family history of genetic disorders, or those who have had a previous pregnancy affected by a genetic condition.
It's important to note that while amniocentesis can provide valuable information about the health of the fetus, it does not guarantee a completely normal baby, and there are some risks associated with the procedure. Therefore, the decision to undergo amniocentesis should be made carefully, in consultation with a healthcare provider, taking into account the individual circumstances and preferences of each woman.
Menière disease is an inner ear disorder that is characterized by episodes of vertigo (a spinning sensation), tinnitus (ringing or buzzing in the ear), hearing loss, and aural fullness (a feeling of pressure or blockage in the ear). It is caused by an abnormal accumulation of endolymphatic fluid in the inner ear, which can lead to damage of the vestibular system and cochlea. The exact cause of this fluid buildup is not known, but it may be related to genetics, allergies, or autoimmune disorders. Menière disease is typically a chronic condition, with symptoms that can vary in frequency and severity over time. Treatment options include dietary modifications, diuretics, vestibular rehabilitation therapy, and, in some cases, surgery.
A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.
Infectious pregnancy complications refer to infections that occur during pregnancy and can affect the mother, fetus, or both. These infections can lead to serious consequences such as preterm labor, low birth weight, birth defects, stillbirth, or even death. Some common infectious agents that can cause pregnancy complications include:
1. Bacteria: Examples include group B streptococcus, Escherichia coli, and Listeria monocytogenes, which can cause sepsis, meningitis, or pneumonia in the mother and lead to preterm labor or stillbirth.
2. Viruses: Examples include cytomegalovirus, rubella, varicella-zoster, and HIV, which can cause congenital anomalies, developmental delays, or transmission of the virus to the fetus.
3. Parasites: Examples include Toxoplasma gondii, which can cause severe neurological damage in the fetus if transmitted during pregnancy.
4. Fungi: Examples include Candida albicans, which can cause fungal infections in the mother and lead to preterm labor or stillbirth.
Preventive measures such as vaccination, good hygiene practices, and avoiding high-risk behaviors can help reduce the risk of infectious pregnancy complications. Prompt diagnosis and treatment of infections during pregnancy are also crucial to prevent adverse outcomes.