Prenatal myelomeningocele treatment and diagnosis
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This document discusses prenatal diagnosis of myelomeningocele (spina bifida). It describes myelomeningocele as a failure of neural tube closure, leaving an open spinal defect. Prenatal diagnosis methods include maternal serum alpha-fetoprotein screening, ultrasonography to identify characteristic signs of hydrocephalus and Chiari II malformation, magnetic resonance imaging for greater resolution, and amniocentesis to measure amniotic fluid acetylcholinesterase levels to increase diagnostic accuracy of alpha-fetoprotein levels.
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The document discusses head injuries and brain trauma. It provides information on:
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2) Secondary injuries like hemorrhages, edema, herniations, and infections that can develop after the initial injury.
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1. It discusses the types, epidemiology, clinical features, diagnosis, management, complications, prognosis and prevention of acute bacterial meningitis and viral meningoencephalitis.
2. Key points include the importance of vaccination, the clinical signs and symptoms of each condition, and treatments involving antibiotics, antivirals and supportive care.
3. Rare conditions like cerebral malaria, tuberculous meningitis and SSPE are also briefly covered.
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2. Pregnancy can exacerbate heart conditions due to increased cardiac workload, and heart disease can increase risks for pregnancy complications.
3. Management of heart disease during pregnancy involves frequent monitoring, activity restriction, medications to prevent infection and manage heart failure, and timing delivery to minimize strain on the mother.
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This document summarizes information on anemia in heart failure patients. Some key points:
1. The prevalence of anemia in heart failure patients ranges from 20-30% for outpatients to 30-40% for inpatients, depending on the definition and study.
2. Anemia is associated with worse prognosis and increased risk of hospitalization and mortality in heart failure patients.
3. Potential treatment options for anemia in heart failure include blood transfusions, erythropoietin-stimulating proteins (ESPs), and iron therapy. However, clinical trials of ESPs like darbepoetin alfa have not shown clear benefits.
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Macrocephaly is defined as a head circumference greater than 2 standard deviations above the mean for age and sex. It can be caused by increased skull size due to conditions like chronic anemia or increased brain size. Hydrocephalus, an excessive accumulation of cerebrospinal fluid in the brain ventricles, is another potential cause. Hydrocephalus can be obstructive due to blockages or non-obstructive if caused by increased fluid production or decreased absorption. Symptoms include irritability, poor feeding, lethargy and vomiting. Diagnosis involves medical history, physical exam, and brain imaging studies like CT or MRI scans. Treatment options include supportive care, medications to reduce fluid production, and surgical placement of a VP
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Raised intracranial pressure is caused by an increase in the volume of brain, cerebrospinal fluid, or blood within the rigid skull. Common causes include brain tumors, cerebral edema from trauma or infection, and hydrocephalus. Symptoms include headache, nausea, drowsiness, and papilledema. Management involves reducing the volume of intracranial contents through measures like head elevation, hypertonic solutions, hyperventilation, and diuretics. More severe cases may require surgical interventions such as ventriculostomy or craniectomy to drain cerebrospinal fluid and relieve pressure.
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Congenital hydrocephalus is present at birth and can be caused by events during fetal development or genetic abnormalities. It is characterized by an abnormally large head size. Acquired hydrocephalus develops after birth from injuries or diseases. It is divided into communicating hydrocephalus, caused by blocked CSF absorption, and obstructive hydrocephalus, caused by blocked ventricular flow. Normal pressure hydrocephalus occurs when hydrocephalus reaches an equilibrium state, causing gait, urinary, and cognitive issues without enlarged head size or elevated pressure.
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Amniocentesis
This document discusses amniocentesis, a prenatal procedure used to test for chromosomal abnormalities and infections in fetuses. It was prepared by nursing students at the University of Sulaimani. Amniocentesis involves extracting a small sample of amniotic fluid, which contains fetal cells, from the amniotic sac using ultrasound guidance. The fluid can be tested to detect conditions like Down syndrome. Risks include bleeding, infection, and potentially miscarriage or preterm labor. Nursing care after amniocentesis involves monitoring vital signs and the fetus.
Chorionic villus sampling
This document provides information about chorionic villus sampling (CVS), a prenatal screening test performed between 10-12 weeks of pregnancy. CVS involves removing a small sample of chorionic villi from the placenta to test for genetic abnormalities in the developing fetus. It can detect conditions like Down syndrome earlier than amniocentesis. The document describes the CVS procedure, its indications for use, potential results, risks, and contraindications.
Sex determination
Sex determination is controlled genetically and establishes the development of sexual characteristics in organisms. The presence of XX chromosomes in females and XY chromosomes in males is responsible for sex determination in humans and most mammals. During meiosis, females produce only X-bearing eggs while males produce equal numbers of X- and Y-bearing sperm, leading to a 1:1 sex ratio at fertilization. Fusion of an X-bearing sperm produces a XX zygote that develops as a female, while an Y-bearing sperm combines to create a XY zygote that becomes a male.
Prenatal diagnosis
Prenatal diagnosis employs techniques to determine the health of an unborn fetus. It is helpful for managing pregnancy and planning for complications. Techniques include ultrasonography, amniocentesis, chorionic villus sampling, and analyzing maternal serum and fetal cells in maternal blood. Each technique can only be used during specific gestational periods and provides different information about potential fetal abnormalities.
Amniocentesis
Amniocentesis is a prenatal procedure that involves inserting a needle into the amniotic sac surrounding the fetus to remove and examine fluid. It tests for chromosomal abnormalities like Down syndrome. The benefits are informing parents of potential issues, but risks include miscarriage less than 1% of the time and infection. It is usually recommended between 15-25 weeks of pregnancy for those at higher risk of fetal abnormalities.
prenatal diagnosis
This document provides an overview of prenatal screening and diagnosis of neural tube defects and Down syndrome. It discusses the incidence, risk factors, screening tests, and diagnostic evaluation for neural tube defects including ultrasound, maternal serum AFP testing, amniocentesis, and fetal MRI. Prenatal screening tests for aneuploidies like Down syndrome are also covered, including first trimester ultrasound, maternal serum markers, and integrated screening. Prevention through folic acid supplementation and pregnancy management options are summarized.
Genetic testing
This document discusses genetic testing, including definitions, purposes, types, and techniques. It covers several types of genetic testing such as carrier screening, preimplantation diagnosis, prenatal testing, newborn screening, and predictive adult testing. Techniques discussed include amniocentesis, chorionic villus sampling, fetal cell analysis from maternal blood, analysis of maternal serum markers, ultrasound, autopsy, and culture/microscopy. Ethical considerations around informed consent are also mentioned.
Prenatal diagnosis
Prenatal diagnosis provides couples at risk of genetic disorders with informed choices. Non-invasive tests like maternal serum screening and ultrasound can detect abnormalities, while invasive tests like amniocentesis and chorionic villus sampling allow for chromosome analysis but carry small risks of miscarriage. Advanced maternal age is the most common indication for testing. Prenatal diagnosis aims to detect issues prenatally in order to provide counseling, reduce anxiety, and potentially enable prenatal treatment in the future through gene therapy.
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The document discusses how to determine sex from human skeletal remains. Key indicators of sex include the shape of the pelvis, skull, and long bones. The pelvis is the most accurate indicator, with features like the sciatic notch, subpubic angle, and pelvic inlet differing between males and females in ways related to reproduction and childbirth. The skull also displays sexual dimorphism through traits such as the supraorbital ridge, orbits, and mandible shape. Measurements of bones can provide clues as well.
Obstetrical Ultrasound
Obstetrical ultrasound uses sound waves and computer imaging to safely examine the fetus without radiation. It can assess gestational age and fetal growth, check for anomalies, and monitor high-risk pregnancies. The exam involves measuring fetal anatomy and evaluating blood flow to check for signs of fetal distress. Abnormal findings may indicate conditions like growth issues or structural defects requiring further investigation.
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Chorion biopsy ( Chorion Villus Sampling)
Chorionic villus sampling (CVS) is an invasive prenatal procedure performed between 70-91 days after the last menstrual period to obtain fetal tissue from the chorionic villi of the placenta for genetic testing. CVS yields more cells and DNA than amniocentesis, allowing for rapid chromosomal analysis and biochemical or DNA testing without needing a cell culture. While sometimes considered riskier than amniocentesis, large studies show CVS has a comparable or lower risk of pregnancy loss. CVS can be performed through the abdominal wall or cervix under ultrasound guidance to evaluate the fetus for genetic disorders, chromosomal abnormalities, or metabolic conditions.
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Ultrasonography Scans in Pregnancy
Ultrasonography scans in pregnancy serve several purposes. There are typically two recommended scans: the 11-14 week NT scan to screen for anomalies and the 18-22 week anomaly scan. Additional scans may be needed depending on risk factors and medical history. The NT scan screens for conditions like Down syndrome while the anomaly scan checks for structural abnormalities. Follow-up scans later in pregnancy monitor growth, check high-risk conditions like preeclampsia, and assess fetal well-being. Ultrasound is a valuable screening tool when used appropriately during pregnancy.
screening for down syndrome
Prenatal screening and diagnosis allows for the detection of fetal abnormalities before birth. It involves various screening techniques in the first and second trimester such as nuchal translucency measurement, maternal serum markers, and ultrasound exams. Invasive diagnostic tests such as amniocentesis and chorionic villus sampling allow for the analysis of fetal cells to check for genetic abnormalities. The goal of prenatal screening and diagnosis is to provide information to parents about the health of the fetus and allow for informed decision making and management planning.
Sridhar prenatal diagnosis
Prenatal diagnosis detects fetal abnormalities before birth through non-invasive and invasive techniques. Non-invasive techniques include ultrasound, fetal echocardiography, and magnetic resonance imaging to visualize the fetus. Maternal serum screening analyzes markers in the mother's blood to assess risk of fetal conditions like Down syndrome. Invasive techniques obtain fetal tissue through procedures like amniocentesis for cytogenetic or molecular testing to diagnose genetic disorders. Prenatal diagnosis aims to provide risk information to families for informed decision making during pregnancy.
Ntd Group 12
Neural tube defects are a group of birth defects that occur early in fetal development when the neural tube fails to close properly. This includes spina bifida, anencephaly, and encephalocele. Neural tube defects can be detected through prenatal screening tests such as measuring maternal serum alpha-fetoprotein and ultrasound. Treatment depends on the specific defect but may involve surgery either in utero or after birth. Taking folic acid before and during early pregnancy can help prevent many neural tube defects.
Genetic screening Dr.Padmesh
Noninvasive techniques are used for prenatal screening and diagnosis. These include fetal ultrasound imaging to visualize anatomy, measuring maternal serum markers like alpha-fetoprotein to screen for neural tube defects, and separating fetal cells from the mother's bloodstream for genetic analysis. More invasive techniques provide tissue samples through procedures like amniocentesis and chorionic villus sampling for cytogenetic or molecular testing to confirm or diagnose genetic disorders.
Intra-uterine fetal death and Post-term pregnancy
Intra-uterine Uterine fetal death and Post-term pregnancy are the important conditions in pregnancy. So definite management is mandatory.
4. prenatal dx.pptx
This document provides an overview of prenatal diagnosis. It discusses how major congenital abnormalities are identified in 2-3% of pregnancies and are a leading cause of infant death. Prenatal diagnosis aims to identify fetal malformations, disruptions, and genetic syndromes to improve counseling. Structural abnormalities can develop through malformation, deformation, or disruption. Neural tube defects are among the most common birth defects. Maternal serum screening for alpha-fetoprotein is an established screening test for neural tube defects. Advances in screening include first trimester screening using nuchal translucency and serum markers, as well as cell-free DNA screening. Sonographic screening can identify soft markers and structural abnormalities. Pregnancies at
Congenital rubella syndrome
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Aneuploidy screening Aneuploidy screening
This document discusses antenatal screening for fetal aneuploidy. It introduces cytogenetics and explains that chromosomal abnormalities occur in approximately 1-2% of live births. The most common types of aneuploidy are trisomy 21, trisomy 18, trisomy 13 and sex chromosome aneuploidies. Screening methods discussed include biochemical screening, ultrasound screening for soft markers and structural abnormalities, and non-invasive prenatal testing using cell-free DNA. Biochemical markers analyzed include PAPP-A, beta-hCG, AFP, uE3, and inhibin A. Soft markers seen on ultrasound include increased nuchal translucency, absent nasal bone, ech
Screening for fetal abnormality in first and second.pptx
This document discusses screening methods for fetal abnormalities in the first and second trimesters of pregnancy. In the first trimester, screening involves assessing maternal age, measuring nuchal translucency, and testing maternal serum for beta-hCG and PAPP-A levels between 11-13 weeks. In the second trimester, screening analyzes maternal serum levels of beta-hCG, AFP, uE3, and inhibin-A between 15-22 weeks. Combining first and second trimester screening can detect up to 90% of cases of trisomy 21 with a 2% false positive rate. Screening aims to identify high risk pregnancies so diagnostic testing can be offered to confirm or rule out abnormalities.
prenatal genet.pptx
This document discusses prenatal genetic testing, including screening and diagnostic tests. It begins with an introduction to genetic testing during pregnancy. The first part focuses on various screening tests that can be done during the first and second trimester, including biochemical markers from blood tests and ultrasound examinations to measure factors like nuchal translucency. Later sections cover diagnostic tests, both invasive and non-invasive, as well as newer tests. The aim of prenatal genetic testing is to determine if genetic disorders are present and allow parents to make informed choices.
UOG Journal Club: Increased nuchal translucency thickness and risk of neurode...
UOG Journal Club: Increased nuchal translucency thickness and risk of neurode...International Society of Ultrasound in Obstetrics and Gynecology (ISUOG)
Increased nuchal translucency thickness and risk of neurodevelopmental disorders
S. G. Hellmuth, L. H. Pedersen, C. B. Miltoft, O. B. Petersen, S. Kjærgaard, C. Ekelund, A. Tabor
Volume 49, Issue 5; Date: May (pages 592–598)
Slides prepared by Dr Maddalena Morlando (UOG Editors-for-Trainees)
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.15961/full
Group 12 Docu
Neural tube defects are a group of disorders that arise early in fetal development from the neural tube failing to close properly. This can cause lifelong complications depending on the severity of the defect. The three main types are anencephaly, spina bifida, and encephalocele. Precise causes are unknown but risk factors include folic acid deficiency, certain medications, and genetics. Prevention focuses on women getting adequate folic acid before and during early pregnancy. Treatment options depend on the type of defect but may include surgery before or after birth.
Neural tube defects
Neural tube defects (NTDs) are birth defects of the brain and spinal cord that occur early in pregnancy. The most severe forms are anencephaly and rachischisis where the brain and spinal cord are exposed or absent. NTDs result from the failure of the neural tube to close properly during embryonic development. Risk factors include genetic factors and folic acid deficiency. Prenatal screening and ultrasound can detect NTDs. Treatment depends on the specific defect but may involve surgery after birth and lifelong management of complications such as hydrocephalus.
SPECIAL DIAGNOSTIC TESTS IN MIDWIFERY
This document discusses diagnostic tests used in obstetrics and gynecology. It begins by highlighting the importance of early detection and screening in women's health. It then describes various biophysical assessments like the biophysical profile, daily fetal movement count, non-stress test, and fetal cardiotocography that are used to assess high-risk pregnancies. It also discusses biochemical assessments including tests of maternal serum and amniocentesis. The document provides details on recently developed technologies that have improved maternal and child health outcomes.
Ee
This document discusses neural tube defects (NTDs), specifically spina bifida. It describes the normal neural development process and different types of spina bifida ranging from mild to severe. Prenatal screening and diagnosis methods are outlined as well as risks factors and the importance of folic acid supplementation. Postnatal management of spina bifida newborns is also summarized.
E E
This document discusses neural tube defects (NTDs), specifically spina bifida. It describes the normal neural development process and different types of spina bifida from mild to most severe. Prenatal screening and diagnosis methods are outlined as well as risk factors and the importance of folic acid supplementation. Nursing care considerations and evaluation steps for infants born with spina bifida are provided.
Ee
This document discusses neural tube defects (NTDs), specifically spina bifida. It describes the normal neural development process and different types of spina bifida from mild to most severe. Prenatal screening and diagnosis methods are outlined as well as risks factors and the importance of folic acid supplementation. Nursing care considerations and evaluation steps for infants born with spina bifida are provided.
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This document discusses atypical infections that can affect newborns. It presents 11 case studies of newborns presenting with various infections such as Chlamydia, Ureaplasma, Parvovirus B19, Toxoplasmosis, CMV, Rubella, Syphilis, RSV, HSV, Varicella, and Malaria. For each case, it describes the presenting symptoms, possible infections, diagnostic tests and treatment options. Common atypical infections that can be contracted during pregnancy or birth are caused by bacteria, viruses, protozoa, and fungi and can involve multiple organ systems.
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Screening for fetal abnormality in first and second.pptx
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Myelocystocele is a rare condition consisting of a low-lying conus medullaris, cystic dilation of the spinal cord central canal, meningocele, and spina bifida, often accompanied by other genitourinary anomalies. It is typically associated with normal intelligence but can cause mild to severe deformities of the lower extremities. Surgical repair is recommended after treating other anomalies, with adequate nutrition and infection prevention, within 6 months to minimize neurological loss and lifelong monitoring.
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Spina bifida is a birth defect that affects the spine and spinal cord. For more information on spina bifida, visit http://www.spinabifida.net which provides educational resources and answers questions about the condition. The website http://www.spinabifida.net can be visited to learn more about spina bifida.
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This document discusses hydrocephalus, including its characteristics, causes, and methods of diagnosis. Hydrocephalus is an abnormal dilatation of the cerebral ventricles. It can be communicating or non-communicating, depending on whether there is intraventricular obstruction. Non-communicating hydrocephalus has multiple potential causes of obstruction within the ventricles or at openings between ventricles. CT scans and MRI are useful for examining ventricle size and detecting obstructions or masses that may be causing hydrocephalus.
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Prenatal myelomeningocele treatment and diagnosis
- 1. Prenatal Myelomeningocele Treatment and Diagnosis Learn more about Myelomeningocele and Spina Bifida at http://www.spinabifida.net
- 2. Terminology • Myelomeningocele - Results from failure of proper neural tube closure during primary neurulation. - Leaves a flat plate of neural tissue called the neural placode. - As a result, the overlying mesodermal and ectodermal elements fail to form and an open spinal defect is produced. - Associated with a Chiari II malformation.
- 4. Prenatal diagnosis • Maternal Serum Alpha Fetoprotein - Initial screen for NTDs. - In amniotic fluid, the AFP conc. is 100-fold less than in fetal CSF. - Sampling at GA 16-18 wks - MSAFP level of 1.5 multiples of the median risk of 1 in 2317 for an open NTD. - MSAFP level of 2.5 multiples of the median risk of 1 in 98 for an open NTD. - Diagnostic accuracy 60-70% - If risk > 1 in 500 further U/S is recommended - False positive of MSAFP levels : incorrect estimated GA, multiple pregnancy, fetal demise
- 5. Prenatal diagnosis • Ultrasonography - The sensitivity is nearly 100% in prenatal screening for NTDs. - Visualize two cranial abnormalities : - characteristic of hydrocephalus “lemon sign” scolloping of the frontal bones on a biparietal view - Chiari II malformation associated with spina bifida “banana sign” abnormally shaped midbrain, elongated cerebellum, obliteration of the cisterna magna
- 7. Prenatal diagnosis • Magnetic Resonance Imaging - Prenatal MRI is increasingly being used to examine fetal neurological anomalies. - Provides greater resolution than U/S.
- 8. Prenatal diagnosis • Amniocentesis - The amniotic AChE level is used to increased the diagnostic accuracy of the amniotic AFP level. - In NTD : neural AChE from CSF leaks into the amniotic fluid. - Accuracy of 99%, false positive of 0.34%
- 9. Questions? • For more educational resources please visit http://www.spinabifida.net
- 10. Questions? • For more educational resources please visit http://www.spinabifida.net