10887159
Descrição
FlashCards por Ana Sarmiento, atualizado more than 1 year ago
|
Criado por Ana Sarmiento
quase 7 anos atrás
|
|
| Questão | Responda |
| Define Birth Defect | Abnormality of structure, function, or metabolism present at birth that results in a physical or mental disabilities or even death. |
| What percent of US births have birth defects? Worldwide? | 2-3% 6% worldwide |
| What are the main causes for birth defects? What percent do they account for from all birth defects? | Unkown Etiology 50-60% Multifactorial Inheritance 20-25% Environmental Agents 7-10% Mutant Genes 7-8% Chromosomal Aberrations 6-7% |
| What percent of neonates have at least one birth defect? Ninety percent of infants with multiple minor defects have ____________. | 14% one or more associated defects |
| What does multifactorial inheritance mean? | That multiple factors contributed to the development of a birth defect. |
| What is Dysmorphology? | A field of study that is concerned with the diagnosis and interpretation of structural defect patterns |
| What is Malformation? | Malformation is when an organ, part of an organ, or part of the body does not develop correctly due to an intrinsic error in the developmental process |
| Cri du Chat is a condition that exhibits Malformation. Describe how this condition presents clinically. | Low birth weight *High-pitched cry Hypotonia Microcephaly Micrognathia Round face Epicanthal folds Low set ears Scoliosis Intellectual disability |
| What is Disruption? | Disruption is when an organ, part of an organ, or a body part is developing normally but something disrupts this process resulting in a birth defect |
| Can a Disruption be inherited? | A disruption cannot be inherited. However, an individual can inherit traits that makes them susceptible to a Disruption. |
| What is the difference between a Malformation and a Disruption? | A Malformation leads to a birth defect due to an error already present at conception. A Disruption is an interruption of an already normally developing fetus. |
| Fetal Alcohol Syndrome is an example of a birth defect caused by a _________ (1). Describe how Fetal Alcohol Syndrome presents clinically (2). | 1. Disruption 2. Small head Epicanthal folds Thin upper lip Flat midface Smooth philtrum Low nasal bridge Underdeveloped jaw Short nose |
| What is a Deformation? Provide an example. | A Deformation is the abnormal form, shape, or position of a body part that resulted from a mechanical force. Example: Club Foot; Amniotic Band Syndrome |
| What is Amniotic Band Syndrome? | Amniotic Band Syndrome results when the amnion ruptures in utero and the resulting bands can entangle the fetus. Depending on where the bands land and restrict, the results can include constricted or amputated limbs, club foot, and cleft lip. |
| What is Dysplasia? | Dysplasia is an abnormal organization of cells within tissue/abnormal tissue formation. |
| Organogenesis is complete by the end of the 1st trimester. Further differentiation is referred to as _________ (1). If there is dysplasia, it is then referred to as _________(2). | 1. Histiogenesis 2. Dyshistiogenesis |
| What is ectodermal dysplasia? | Abnormal tissue development of hair, skin, nails, teeth, etc |
| 1. What is Achondroplasia? 2. What causes Achrondroplasia? | 1. Achondroplasia is a skeletal dysplasia; a form of short-limbed dwarfism 2. It is caused by a substitution of G > A in the FGFR3 gene on the p arm of chromosome 4 |
| What is Polytopic Field Defect? | Polytopic Field Defect is a pattern of anomalies that arises from a disturbance of a single developmental field. |
| What is Caudal Regression? What is it an example of? | Caudal Regression is an example of a Polytopic Field Defect. It is a congenital disorder in which there is abnormal development of the caudal region of the spine. It can be traced to a disruption in the caudal mesoderm and is almost always associated with a single umbilical artery. |
| What is a sequence? | A Sequence is when a single known or presumed structural or mechanical factor leads to a chain or cascade of anomalies |
| What is Potter's Sequence? | Potter's Sequence is a pattern of anomalies that arises due to low amniotic fluid levels in utero. Low levels of amniotic fluid are due to renal agenesis or leakage of amniotic fluid. |
| What is a Syndrome? Provide an example. | A Syndrome is a pattern of anomalies that are related pathogenetically. Down Syndrome is an example. |
| What is an Association? | An association is a nonrandom occurrence in two or more individuals of multiple anomalies not known to be a field defect, sequence, or syndrome. No etiology has been determined. |
| What is Teratology? | Teratology is the study of causes, mechanisms, and patterns of abnormal development. |
| 1. What is Spina Bifida? 2. Can it be surgically cured? 3. What can be done to decrease the risk of developing Spina Bifida? 4. Where is the most common location for Spina Bifida? | 1. Spina Bifida is the incomplete closure of the neural tube; the bones in that area also do not fuse. 2. It can be surgically closed after birth, but it won't restore normal function. Affected individuals have dysfunction of the spinal cord and associated nerves from the point of the open defect downward. 3. Taking Folic Acid reduces risk by 70% 4. The most common location is lumbar or sacral |
| Scientists used to believe that the neural tube had one closure site and it closed through a zipping mechanism. Approximately how many closure sites do scientists now think are involved in the formation of the neural tube? | Approximately 5 closure sites |
| What is Spina Bifida with Meningocele? What can be done about it? What is the prognosis for children with this condition? | In this rare form of Spina Bifida the membrane surrounding the spinal cord (meninges) protrude through the opening forming a lump or sac on the back. Children with this form of Spina Bifida can have an operation during infancy to push meninges back and close the hole in the vertebrae. Most children with this have no other health problems (unless there is nerve tissue involved with the sac) |
| What is the most severe form of Spina Bifida? What can individuals with this condition also experience? 70-90% of these individuals will also have what other condition? | Myelomeningocele Paralysis from the opening downward; Loss of sensation below the lesion; Loss of bowel/bladder control. Hydrocephalus |
| 1. What is Hydrocephalus? What can it cause? 2. What surgical procedure helps with this? | 1. Hydrocephalus is when there is a build up of fluid in the skull which causes the brain to swell. The pressure can cause seizures, blindness, and brain damage. 2. Shunting can help relieve fluid buildup by draining it. |
| What ultrasound findings are associated with Spina Bifida? (4 major findings) | 1. Hydrocephalus 2. Banana Sign 3. Lemon Sign 4. Visualize the lesion in the spine |
| What is Anencephaly? | Anencephaly occurs when the neural tube fails to close at the rostral neuropore. It is the incomplete development of the brain and cranial vault (calvaria) |
| What is an Encephalocoele? What happens when the defect is small? Large? | An Encephalocoele is a sac-like protrusion of the brain/skull If the defect is small, only the meninges herniate. If the defect is large, meninges and brain herniate through the opening. |
| 1. What is Craniosynastosis? 2. Is it an association, sequence, syndrome, etc? 3. How is it inherited? What about isolated craniosynastosis? | 1. Craniosynastosis is a rare condition, in which a baby is born with an abnormally shaped skull. It results from a premature closure of cranial structures. 2. It is syndromic. 3. It is autosomal dominant. Isolated craniosynastosis is usually sporadic. |
| What is dolichocephaly? | Dolichocephaly is when the saggital suture closes prematurely resulting in the cranium becoming long and narrow. |
| What is Oxycephaly/Brachycephaly? | Oxycephaly is the premature closure of coronal sutures that result in a towerlike cranium. |
| 1. What is Microcephaly and how does it occur? 2. What is it NOT caused by? 3. Individuals with Microcephaly are severely _______ _______. | 1. Microcephaly is a birth defect where the baby's head is smaller than expected. It is caused when the fontanelles close during early infancy. It is caused by abnormal CNS development in which the brain doesn't grow well. 2. It is NOT caused by the premature closure of sutures. 3. Intellectually disabled |
| 1. What is holoprosencephaly? 2. ____% are affected with a chromosome abnormality. Seventy-five percent of these are _______ ___. 3. _______ ________ increases the incidence of holoprosencephaly 200-fold. 4. Pregnancy management should include what? (3 things) | 1. Holoprosencephaly is a disorder in which the fetal prosencephalon does not successfully divide into the two cerebral hemispheres resulting a single-lobed brain structure and severe skull and facial defects. 2. 40%; Trisomy 13 3. Maternal Diabetes 4. Karyotype/Microarray, DNA mutation study (panel), and a fetal MRI |
| 1. What is Hydrocephalus? 2. It is congenital or acquired? 3. What can Hydrocephalus cause? | 1. Hydrocephalus is the accumulation of CSF within the ventricles. 2. Either 3. Hydrocephalus can cause CNS issues, developmental delay, or intellectual disability. |
| Describe the normal flow of Cerebrospinal Fluid. | Cerebral Spinalfluid is formed by the choroid plexus. The flow begins in the lateral ventricles and proceeds to the third ventricle. It then proceeds through the aqueduct into the fourth ventricle. It passes through the foramina into the subarachnoid space and is then absorbed by blood vessels. Afterward, it is carried to the kidneys and liver to be processed like other body fluids. |
| What results from abnormal CSF flow? | Enlarged ventricles |
| 1. What two types of problems can we encounter with abnormal CSF flow? What is the difference between them? 2. Which individuals does it disproportionately affect? 3. Does it usually occur unilaterally or bilaterally? 4. How is it inherited? 5. What is the recurrence risk? | 1. Non-communicating - Block in flow of CSF (due to obstruction) Communicating - Problem with the absorption of CSF 2. Males 3. Bilaterally 4. Usually sporadic but can be x-linked (Autosomal dominant and recessive forms seen) 5. 4% |
| What is the differential diagnosis for hydrocephalus? | Meningomyelocele Dandy-Walker Malformation Agenesis of the corpus callosum Aneuploidy Intracranial hemorrhage Intrauterine infection CNS tumor Hydranencephaly Porencephaly Holoprosencephaly |
| Outline the management for a pregnancy with hydrocephalus. | 1. Successive ultrasounds to determine if hydrocephalus is stable, progressive, or resolving. 2. Assessment of other abnormalities 3. Diagnostic Studies Chromosome analysis (T9, 13, 18, triploidy) DNA analysis (LICAM mutations) Infection work up Delivery method based on cranial size |
| Outline what the neonatal assessment for hydrocephalus would include. | 1. Consultation with a medical geneticist and neurosurgeon 2. Postnatal diagnosis through MRI or CT scan 3. Shunt placement within 4 days 4. Autopsy |
| 1. What is a Tracheoesophogeal Fistula? 2. What variation of this is the most common? By what percent? 3. Which individuals are disproportionately affected? 4. This condition is associated with a 6-10% of what? | 1. An esphogeal atresia is characterized by an incomplete formation of the esophagus. This is often associated with a fistula between the trachea and the esophagus. 2. The most common variant has a fistula between the trachea and distal esophagus. This accounts for 87% of cases. 3. Males 4. Chromosome abnormality |
| 50% of infants with esophogeal atresia have a congenital anomaly. List 5 | 1. Musculoskeletal anomalies 2. Gastrointestinal Anomalies 3. Cardiac Anomalies 4. Genitourinary Anomalies 5. 10% have VATER/VACTERL syndrome |
| VATER/VACTERL is an acronym for what syndrome of anomalies? | Vertebral defect Anorectal malformation Cardiac defect Tracheoesphogeal Fistula Renal anomaly Radial dysplasia Limb defects |
| 1. What is Congenital Diaphragmatic Hernia? 2. What does it result in? 3. How is it usually inherited? 4. What may also be present? 5. Is it unilateral or bilateral? | 1. It is when the abdominal contents herniate into the thoracic cavity due to a defect in the posterolateral region of the diaphragm 2. Pulmonary Hypoplasia (hypoplastic lungs) 3. Usually sporadic 4. Excess amniotic fluid (polyhydramnios) 5. Usually unilateral, occurring on the left side in 85-90% of cases |
| 1. What is gastroschisis? 2. What is it due to? 3. What is the fetal demise risk in the third trimester? 4. What mothers are disproportionately affected with gastrochisis? What is it often associated with? | 1. Gastroschisis is an abdominal wall defect in which abdominal contents protrude into the amniotic cavity through an opening to the right of the umbilicus. 2. The opening is due to an incomplete closure of the lateral folds in the 4th week of development 3. 10% 4. Mother under 20 years of age; often associated with maternal smoking |
| Outline the surgical repair of gastroschisis. | Surgical correction involves the return of contents followed by abdominal wall closure. |
| The surgical repair of gastroschisis can be done all at once (primary repair) or in stages, depending on postnatal assessment of the exposed bowel. 1. Primary repair involves what? 2. What can make primary repair not feasible? | 1. Primary Gastroschisis repair involved the reduction of the bowel and complete abdominal closure in one operation. 2. If the intestines were exposed to amniotic fluid, it could result in bowel dilation and inflammation, making primary repair not feasible. |
| Outline the staged approach to gastroschisis repair. | 1. At the time of delivery, exposed intestines are placed in a protective covering called silastic sheeting (SILO) 2. The silo is reduced daily until the contents are level with the skin 3. The infant is then taken to the OR for the final closure of the abdomen |
| 1. What is an omphalocele? 2. Thirty percent of infants with an omphalocele have increased risk of _________. | 1. An omphalocele is the herniation of abdominal contents into the umbilicus. 2. chromosomal abnormalities |
| Unilateral Renal Agenesis occurs in 1 out of 1000 births. 1. Which individuals are disproportionately affected? 2. Which kidney is usually absent? | 1. Males 2. Left Kidney |
| 1. What is duodenal atresia? 2. Approximately 20-30% of infants with duodenal atresia also are affected with what? 3. What can possibly arise from this condition? Why? | 1. The duodenum is the first section of the small intestine. Duodenal atresia is when the duodenum does not fully form. 2. Down Syndrome 3. Polyhydramnios occurs because normal absorption of amniotic fluid by intestines does not occur. |
| Discuss the differences between duodenal stenosis and duodenal atresia. | Duodenal atresia is more common at 70% than stenosis at 30% Atresia is when it does not fully form and there is a block. Stenosis is when it is partially obstructed and therefore is narrow. Duodenal atresia appears as a "double bubble" on ultrasound |
| Describe the recanalization of the duodenum and what can go wrong which leads to duodenal atresia or stenosis. | The duodenum starts off as a small hollow tube. For unknown reasons, during development, cells fill the tube effectively blocking it. Normal development should then apoptose these cells revealing a normally developed duodenum; this phenomenon is called recanalization. If the duodenum only partially recanalizes, the result is stenosis. If it does not recanalize at all, it results in atresia ("double bubble"). |
| What is a hemivertebrae? | The developing vertebrae have two chondrification centers. Hemivertebrae results when one of these centers fails to appear leaving a half-formed vertbrae |
| 1. What is Pectus Excavatum? 2. It is often seen in individuals that also have what? | 1. Pectus Excavatum is a concave depression of the sternum 2. Fragile X or Marfan Syndrome |
| ____ % of normal karyotype + normal Ultrasound have an abnormal microarray ____ % of normal karyotype + abnormal Ultrasound have an abnormal microarray _____ % of fetuses reveal a VUS in their microarray | 1.7% 6% 0.9% |
| What are the CMA recommendations for the following scenarios: 1. Normal ultrasound 2. Abnormal ultrasound 3. IUFD or Stillbirth >20 weeks gestation | 1. microarray or karyotype 2. microarray (can replace karyotpe) 3. microarray |
| What should a counselor mention about CMA to patients before they go through with testing? (6 items listed in class) | 1. That it is recommended by the ACOG 2. It will identify almost all abnormalities that a karyotype can in addition to some genetic disorders 3. The clinical presentation of any identified abnormalities may vary greatly 4. It might not be possible to predict the prognosis if an abnormality IS identified (due to things like incomplete penetrance and variable expressivity) 5. Results might identify adult on-set disorders 6. It might identify consanguinity or non-paternity |
| 17q12 Deletion Syndrome: Discuss its penetrance and phenotype. | - Incomplete Penetrance Variable Phenotype: - major structural brain abnormalities - developmental delay - cystic renal disease - bladder anomalies - pancreatic atrophy/diabetes - epilepsy -diaphragmatic hernia |
| Neurexin I (NRXN1) 1. What does this gene encode? 2. What does that gene product do? 3. Errors in this gene are associated with what? 4. Discuss its penetrance and expressivity | 1. Produces neurexin protein 2. This protein forms a complex with neuroligins which is required at synapses for neurotransmission 3. Errors in this gene are associated with autism, intellectual disability, and schizophrenia 4. Incomplete penetrance and variable expressivity |
| SIX3 Deletion 1. What is this deletion associated with phenotypically? 2. What kind of gene/gene product is this and what is its role? | 1. Alobar holoprosencephaly with cyclopia 2. It is a homeobox gene that produces a transcription factor that is crucial in the development of the forebrain and eye |
| What are some patient reactions to abnormal CMA results? | Patients felt abandoned in the decision-making process Patients felt blind-sided by abnormal results |
| To reduce negative patient reactions to abnormal or uncertain CMA results, counselors should be sure to discuss what important items before testing? | 1. Pre-test counseling should discuss the uncertainties that are associated with CMA 2. The counselor should assess and make the patients aware of their own tolerance for uncertainty |
| What are some decision-making aids for patients? | 1. Improve patient knowledge 2. Manage expectations 3. Increase patient involvement 4. Increase consistency between patient values and patient decisions 5. Reduce decisional conflict |
Quer criar seus próprios Flashcards gratuitos com GoConqr? Saiba mais.