10509792
Description
Flashcards by Ana Sarmiento, updated more than 1 year ago
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Created by Ana Sarmiento
over 6 years ago
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| Question | Answer |
| When is NIPT available? | First trimester |
| ____________ has gone down because of the availability of NIPT. | Diagnostic testing |
| When the concept of NIPT was first being developed, researchers attempted to isolate fetal cells in maternal blood. What two obstacles did they encounter in this endeavor? | 1. Only one in a billion cells in maternal blood are fetal cells 2. Cells from previous pregnancies can stay in maternal blood |
| Instead of isolating cells, what other material did they find in maternal blood that was conducive for non-invasive prenatal testing? | cell-free fetal DNA |
| Fetal and maternal cell-free DNA is present in maternal blood in what proportions? | 90% maternal cell-free DNA 10% fetal cell-free DNA |
| What is the primary source for cfDNA in maternal blood? | The primary source of fetal cells in maternal blood is due to apoptosis of placental cells |
| Why is it not necessary to differentiate between maternal and fetal DNA in NIPT? | In NIPT, chromosome fragments are sequenced to determine what chromosome they came from (i.e., chromosome 1, chromosome 2, etc). If both mom and baby have normal karyotypes, the amount of genetic material present per chromosome should be proportional in size to the amount of genetic material present in a normal karytope. If however, we see extra genetic material for one particular chromosome, and the mother has a normal phenotype, we might expect that the extra material came from the fetus, and it might have a trisomy. |
| What does NIPT screen for? | Trisomy 21 Trisomy 18 Trisomy 13 Sex Chromosome Abnormalities |
| Ten downsides to NIPT were mentioned on the slides. Name as many as you can. | 1. Not diagnostic 2. Need to confirm with CVS or Amnio 3. Can't detect all chromosome abnormalities 4. Can't detect chromosomal duplications or deletions 5. Can't detect genetic disorders 6. Can't detect neural tube defects or ventral wall defects 7. Result can take up to 10 days 8. Can be mistakenly considered a diagnostic test 9. Some OB practices opt to skip first trimester ultrasound if NIPT is done 10. Failure rate is 1% |
| What are some indications for NIPT? (4 mentioned in class) | 1. Advanced Maternal Age 2. Previous pregnancy affected with a chromosome abnormality 3. Abnormal Maternal Serum Screen 4. Ultrasound abnormality |
| Microarray is a Diagnostic/Screening Test. Choose one. | Diagnostic |
| Microarray is a ________ karyotype. | molecular |
| What does microarray detect? | Detects smaller abnormalities such as microdeletions and microinsertions |
| What are a couple of ways that microarray is better than a regular karyotype? | 1. It defines breakpoints better 2. You can customize the coverage of the array; can provide denser coverage of a specific area, for example |
| Outline the process of Array cGH | 1. Patient and control DNA is labeled with different colored fluorescent dyes. 2. The labeled DNA samples are then applied to the microarray 3. Patient and control DNA compete to hybridize to the microarray 4. The microarray scanner measures fluorescent signal intensity 5. Computer software gathers the data and generates a plot |
| How is a microarray read? | If the patient DNA is present in correct amounts, we should see roughly equal amounts of patient and control DNA on the microarray. If however, we see more patient labeled DNA, this indicates a duplication. If we see more control labeled DNA, this indicates a deletion. |
| Define: Adjusted Age How is adjusted age calculated? | "Adjusted Age" is used to describe children up to 3 years of age that were born prematurely. Calculated by subtracting the number of weeks born before 40 weeks gestation from the chronological age. Ex: 9 month old born two months early is expected to look and act like a 7 month old |
| Define: Anemia | Condition where red blood cells are low. |
| Define: Antenatal Steroids | Steroids given to help fetal organs mature more rapidly. Given when pre-term delivery: If intact membranes, between 24-34 wks If membranes ruptured, between 24-32 wks |
| Define: Asphyxia | Lack of Oxygen |
| Define: Bagging | Pumping room air or oxygen into baby's lungs y squeezing bag of air into a mask or over baby's mouth and nose or through a trach |
| Define: Cardiopulmonary monitor | machine that tracks heart and breathing rates |
| Define: Catheter | a hollow, flexible tube for insertion into a body cavity, duct, or vessel to allow the passage of fluids or to drain a passageway or cavity. Ex: IV fluids, to drain the bladder, or to insert into a heart vessel for diagnosis |
| Define: Central Venous Line (CVL) | Catheter placed in a major vein of the body |
| Define: Comfort Measures Only (CMO) | Palliative Care; keep comfortable without prolonging life |
| Define: Continuous Positive Airway Pressure (CPAP) | Supplemental oxygen or room air delivered under pressure through a trach or tubes through the nostrils Under pressure, air delivery helps to keep air sacs (alveoli) open and maintain a clear airway |
| Define: Cyanosis | Blue/Gray discoloration because of insufficient oxygen |
| Define: Echocardiogram (Echo) | non-invasive ultrasound of the heart |
| Define: endotracheal tube (ETT or ET Tube) | Tube placed through the mouth or nose into the throat and trachea |
| Define: Exchange Transfusion | Blood transfusion; baby's blood is removed and replaced with donor blood. Can be used to treat severe jaundice |
| Define: Extracorporeal Membrane Oxygenation (ECMO) | Oxygenation outside the body Extracorporeal life support that allows the lungs to rest and recover from disease or medical conditions |
| Define: Extubation | Removing the ETT or ET Tube (from the trach) |
| Define: Gastrostomy | Surgically created opening through abdominal skin and into the stomach through which a baby can be fed |
| Define: Gavage Feeding | Method of feeding breast milk or formula before coordinated breathing and swallowing has been learned A small nasogastric tube is placed through the nose or mouth and passed to the stomach. (Aka tube feeding) |
| Define: High Frequency Ventilation | Mechanical ventilation designed to reduce complications to infant lungs. Provides rapid respiratory rates. (Aka oscillator or Jet ventilator) |
| Define: I & O (Input and Output) | Refers to the amount of fluids given (through IV feeding) and the amount of fluid excreted (through urine or stools) |
| Define: Incubator or Isolette | Clear, plastic, enclosed, heat-controlled crib used to keep premature infants warm Premature infants can lose heat quickly. |
| Define: Intrauterine Growth Restriction (IUGR) What factors can cause this? (13 you can choose from) | When the fetus doesn't grow to the proper size while in the uterus Caused by: decreased blood flow to placenta maternal hypertenstion drug use smoking poor weight gain dieting during pregnancy pre-eclampsia alcoholism multiple fetuses placenta or cord abnormalities prolonged pregnancy chromosomal abnormalities small placenta |
| Define: Intravenous (IV) | Catheter inserted into a vein that delivers fluids; needs to be changed frequently in infants due to fragile veins |
| Define: Intubation | Inserting a tube into the trachea to reach lungs |
| Define: Kangaroo Care | Skin-to-skin contact between parent and baby. Baby has only diaper and hat. Baby's head turned to the side so baby can feel/hear paren'ts heartbeat and warmth. Works best for babies not in critical condition. |
| Define: Lumbar Puncture | Diagnostic Procedure. Involves inserting hollow needle into lower back to collect cerebrospinal fluid for analysis and sometimes to relieve pressure (Aka spinal tap) |
| Define: Magnetic Resonance Imagine (MRI) | Imaging technique that uses powerful magnets and computers to produce a detailed image of tissues |
| Define: Monitor | Machine that records heartbeat, body temperature, respiration rate, and blood pressure |
| Define: Nasal Cannula | Light, flexible tube used to give supplemental oxygen to baby. Flows through two prongs extending into the nostrils |
| Define: Nasal Prongs | small plastic tubes that fits into or under a baby's nose to deliver oxygen |
| Define: Nasogastric Tube (NG Tube) | Narrow flexible tube inserted through nostril down esophagus, into stomach Used to feed or remove air or fluid from the stomach |
| Define: Nebulizer Treatment | Nebulizer humidifies air and/or oxygen tha tis passed to the infant Can transform medicine into droplet form for inhalation |
| Define: Neonatal Intensive Care Unit | A Special care nursery for premature and newborn infants with severe medical implications Levels 1-3 3 most critical 1 least critical |
| Define: Neonate | Infants in their first 30 days of life |
| Define: NPO | Abbreviation for a latin term meaning "Nothing by mouth" I.E., no food or water |
| Define: Oxygen Hood | A clear plastic box that fits over a baby's head and supplies them with oxygen |
| Define: Oxygen Therapy How is it measured? | Giving extra oxygen to body tissues through a variety of ways Measured as a percentage, number of liters, number of milliliters, or flow per minute |
| Define: Percutaneous Line/Percutaneous Central Catheter (PICC Line) | Long catheter placed into a surface vein with the catheter tip extending farther into the body into a large central vein. Doesn't have to be replaced as often as an IV line. |
| Define: Perinatal | Around the time of birth (~22 weeks to 7 days after birth) |
| Define: Phototherapy | Light therapy to treat jaundice |
| Define: Post-partum | Following birth |
| Define: Pulse oximeter | A small device that uses a light sensor to help determine blood oxygen levels |
| Define: Redirection of Care | Changing medical plan from management to prolong care to CMO (comfort measures only) |
| Define: Room Air What percent is Oxygen? | Air we normally breathe 21% Oxygen |
| Define: Surfactant | Substance produced in lungs that prevent alveoli from collapsing and sticking together by reducing surface tension Without surfactant, alveoli collapse on exhalation. One of the last systems to mature which can cause the breathing problems found in pre-term infants |
| Define: Swaddling | Wrapping babies up tight in fabrics, restricting limb movements, provides a secure womb-like feeling |
| Define: Transfusion | Transfer of whole blood or blood products from one person to another |
| Define: Umbilical Arterial Catheter (UAC) | Small tube placed in belly button artery Used to check blood pressure, draw blood samples, and give fluids |
| Define: Umbilical Venous Catheter | Catheter placed in belly button vein Used to give baby fluids and medications |
| Define: Ventilator (Vent) | Machine that helps breathing by supplying and regulating a flow of air and oxygen that goes through a tube, then through the nose or mouth, then down the throat, and into the trachea |
| Define: Vital Signs Monitor What happens if something changes to an abnormal level? | Measures and displays heart rate, breathing rate, and blood pressure. Alarm sounds if abnormal. |
| Define: Warmer | (AKA Radiant Warmer) Allows maximum access |
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