Term
|
Definition
| Major congenital anomalies are found in how many births? |
|
|
Term
|
Definition
| What percentage of births are complicated by minor birth defects? |
|
|
Term
Chorionic villus sampling
(CVS) |
|
Definition
| An US directed biopsy of the placenta or chorionic villi(chorion frondosum). |
|
|
Term
|
Definition
| the active trophoblastic tissue that becomes the placenta |
|
|
Term
| Chorionic villus sampling |
|
Definition
| earliest procedure that can be done during pregnancy for fetal karyotyping |
|
|
Term
|
Definition
|
|
Term
- performed early in pregnancy
- results are available within 1 week
- earlier results allow more options for parents
|
|
Definition
|
|
Term
| transcervically or transabdominally |
|
Definition
|
|
Term
Dorsolithotomy
(pelvic exam post.) |
|
Definition
| What position is CVS done in? |
|
|
Term
|
Definition
| What is the risk of fetal loss because of CVS? |
|
|
Term
|
Definition
| CVS has some association with what if done before 10 weeks? |
|
|
Term
| Chromosomal abnormalities |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| permits the direct viewing of the developing embryo using a transcervical endoscope inserted into the cervix during the first trimester |
|
|
Term
|
Definition
| What is pierced by the endoscope during embryoscopy? |
|
|
Term
| fetal anomalies or samole of blood aspirated and checked for various blood disorders. |
|
Definition
| What can be detected with embryoscopy? |
|
|
Term
- relieve polyhydramnios
- to predict RH isoimmunization
- to document fetal lung maturity
|
|
Definition
| How was amniocentesis first used? |
|
|
Term
|
Definition
| Risk of having an abnormal fetus increases after what age? |
|
|
Term
| normal and abnorcal chromosome patterns |
|
Definition
| What can amniocentesis show? |
|
|
Term
|
Definition
| when is amniocentesis done? |
|
|
Term
| development of fetal scoliosis or clubfoot secondary to the reduced amount of fluid |
|
Definition
| Amniocentesis can be done as early as 12weeks but may lead to what? |
|
|
Term
|
Definition
| Amniocentesis may be performed after 20 weeks but may be associated with what? |
|
|
Term
- hand clenching
- choriod plexus cysts
- ventriculomegaly
- thickened nuchal fold
- cardiac anomalies
- omphalocele
- spina bifida
- foot anomalies
|
|
Definition
| What are clues to chromosomal anomalies? |
|
|
Term
|
Definition
| Why should the first few mm of fluid during an amniocentesis be discarded? |
|
|
Term
|
Definition
| How much fluid will be collected during an amniocentesis? |
|
|
Term
|
Definition
| What is the overall risk of miscarriage from amnio? |
|
|
Term
| uterine contractions and cramping |
|
Definition
|
|
Term
|
Definition
| How long do results take for an amnio? |
|
|
Term
| Each fetal sac muct be entered, and indigo camine dye is injected in first sac |
|
Definition
| Why is an amnio with multiple gestations different from single gestation? |
|
|
Term
|
Definition
| In RH neg. mothers the RhoGAM is given within how long after an amnio? |
|
|
Term
| percutaneous umbilical cord sampling |
|
Definition
|
|
Term
Cordocentesis
or
fetal blood sampling |
|
Definition
| percutaneous umbilical cord sampling is the same thing as what? |
|
|
Term
| transabdominally after 17 weeks |
|
Definition
| when is a cordocentesis done? |
|
|
Term
into umbilical cord at the insertion point
into the placenta |
|
Definition
| Where is the needle inserted during a cordocentesis? |
|
|
Term
| rapid chromosomal anomalies |
|
Definition
| What does cordocentesis detect? |
|
|
Term
|
Definition
| These are measured during second trimester and hav been recognized as important risk indicators of neural tube defects and chromosomal disorders |
|
|
Term
- alpha fetoprotein (AFP)
- unconjugated estriol (uE3)
- beta human gonadotropin (beta hCG)
|
|
Definition
|
|
Term
|
Definition
| Major protein in fetal serum and is produced by the yolk sac in early gestation and later by the fetal liver |
|
|
Term
| fetal spine, gastrointesinal tract, liver, and kidneys |
|
Definition
|
|
Term
|
Definition
| this protein is transported into the amniotic fluid by fetal urination and reaches maternal circulation or blood through the fetal membranes |
|
|
Term
- Maternal serum (MSAFP)
- amniotic fluid (AFAFP)
|
|
Definition
|
|
Term
|
Definition
| Maternal serum AFP peaks when? |
|
|
Term
|
Definition
| Concentration of AFP correlates with what? |
|
|
Term
|
Definition
| What can cause AFP levels to double? |
|
|
Term
|
Definition
| AFP leves are abnormal when? |
|
|
Term
|
Definition
| Liver disease in mother or fetus may cause what? |
|
|
Term
|
Definition
| Open defects do what to AFP levels? |
|
|
Term
|
Definition
| Occurs when the embryonic neural tube fails to close |
|
|
Term
|
Definition
| AFP exits the fetus through an open in neural tube if there is one which allows greater amount to pass into maternal circulation. |
|
|
Term
- cephalocele
- anencephaly
- spina bifida
- acrania
- myelomeningocele
|
|
Definition
| Types of neural tube defects? |
|
|
Term
|
Definition
| Higher levels with gastroschisis why? |
|
|
Term
|
Definition
| What is a frequent cause of high MSAFP level? |
|
|
Term
- Preeclampsia
- hypertension
- apruption placentae
|
|
Definition
| 3rd trimester complications associated with MSAFP: |
|
|
Term
- In chromosomal abnormalities without neural tube defects
- incorrect pt dates
- fetal death
- hydatidiform moles
- spontaneous abortion
|
|
Definition
|
|
Term
|
Definition
| biochemical screening test combines 4 serum markers |
|
|
Term
- AFP
- hCG
- Unconjucated estriol
- Dimeric inhibin A
|
|
Definition
| Quadruple screen markers: |
|
|
Term
| high hCG and decreased AFP & estrial |
|
Definition
| trisomy 21 reveals what lab values? |
|
|
Term
| Decreased hCG, AFP, and estriol levels |
|
Definition
| trisomy 18 reveals what lab values? |
|
|
Term
| improves the sensitivity in detecting Down fetuses |
|
Definition
| Why did they add dimeric inhibin A? |
|
|
Term
Preg-Associated Plasma Protein A
(PAPP-A) |
|
Definition
| First trimester serum marker used to detect anomalies |
|
|
Term
Preg-Assoc. Plasma Protein A
(PAPP-A) |
|
Definition
| a glycoprotein derived from the trophoblastic tissue that is then diffused into the maternal circulation |
|
|
Term
|
Definition
| what increased in maternal serum throught preg? |
|
|
Term
|
Definition
| PAPP-A decrease in pregnancies affected by what? |
|
|
Term
|
Definition
| Glycoprotein derived from the placenta that can be assessed in maternal serum in the first trimester to evaluate for increased risk of Down syndrome. |
|
|
Term
- Free beta-hCG
- PAPP-A
- nuchal translucency
|
|
Definition
| What measurements combine for a sensitive screening tool for Down syndrome? |
|
|
Term
|
Definition
| Normal karyotype consists of ? |
|
|
Term
| 22 pairs of autosomes and 1 sex chromosome |
|
Definition
| How many pairs of autosomes and sex chromosomes? |
|
|
Term
|
Definition
| an abnormality of the number of chromosomes |
|
|
Term
|
Definition
| what is the most common aneuploidy? |
|
|
Term
|
Definition
| has an extra chromosome number 21 |
|
|
Term
| Usually nondisjunction, the failure of normal chromosomal division at the time of meiosis |
|
Definition
| what is the cause of trisomy? |
|
|
Term
|
Definition
| an abnormal event that arises because of the interaction of one or more genes and environmental factors |
|
|
Term
|
Definition
| example of a multifactorial disorder |
|
|
Term
|
Definition
| How often are chromosomal abnormalitiees found? |
|
|
Term
|
Definition
| an abnormal fluid collection behind the fetal neck associate with aneuploidy |
|
|
Term
|
Definition
| Abnormal nuchal translucency |
|
|
Term
|
Definition
| when is nuchal translucency measured? |
|
|
Term
|
Definition
| down syndrome occurs how often? |
|
|
Term
|
Definition
| what is associated with downs? |
|
|
Term
|
Definition
| what is the major cause of mortality in infancy? |
|
|
Term
- Low AFP
- Low estriol
- High hCG
- high inhibin A
- low PAPP-A
|
|
Definition
| Labs associated with Downs? |
|
|
Term
- absent nasal bones*
- hyperechoic bowel
- macroglossia
- nuchal thickness
- shortened limbs
- heart defects
- clinodactyly of the fifth finger
|
|
Definition
| Sonographic associations with downs? |
|
|
Term
|
Definition
| 2nd most common chromosomal trosomy |
|
|
Term
|
Definition
| how often does trisomy 18 occur? |
|
|
Term
|
Definition
| demonstrates an extra chromosome 18, and all levels are low |
|
|
Term
|
Definition
| how often does trisomy 13 occur? |
|
|
Term
Patau's syndrome
(trisomy 13) |
|
Definition
| Extra chromosome 13, extremely severe anomaly consists of multiple anomalies, many involve the brain |
|
|
Term
|
Definition
| What percent of infants die within first month having trisomy 13? |
|
|
Term
|
Definition
Complete extra set of chromosomes
64 |
|
|
Term
|
Definition
| often result of ova being fertilized by 2 sperm |
|
|
Term
|
Definition
| a genetic abnormality marked by the absence of the x or y chromosome |
|
|
Term
|
Definition
| turners is typically found in what sex? |
|
|
Term
|
Definition
| What is highly associated with turner's? |
|
|
Term
|
Definition
| protein manufactured by the fetus, which can be studied in amniotic fluid and maternal serum.Elevation may indicate fetal anomalies, multiple gestations, or incorrect dates. Decreased levels may indicate chromosomal abnormalities. |
|
|
Term
|
Definition
| transabdominal removal of amniotic fluid from amniotic cavity using ultrasound. Determine fetal karyotype, lung maturity, and Rh condition |
|
|
Term
|
Definition
| dilation of jugular lymph sacs because of improper drainage of the lymphatic system into the venous system. Large, septated ones are frequently associated with Turner's and Downs, congestive heart failure, and death of the fetus in utero |
|
|
Term
|
Definition
| abnormally wide-spaced orbits usually found in conjunction with congenital anomalies and mental retardation |
|
|
Term
|
Definition
| underdevelopment of a tissue, organ, or body |
|
|
Term
|
Definition
| abnormally closely spaced orbits; association with holoprosencephaly, chromosomal, central nervous system disorders, and cleft palate |
|
|
Term
|
Definition
| a decreased rate of fetal growth, usually a fetal weight below the 10th percentile for a given gestational age |
|
|
Term
|
Definition
| abnormally small chin; commonly associated with other fetal anomalies |
|
|
Term
|
Definition
| anterior abdominal wall defect in which abdominal organs are atypically lacated within the umilical cord; highly associated with cardia, central nervous system, renal and chromosomal anomalies |
|
|
Term
|
Definition
| anomalies of the hands or feet in which there is an addition of a digit; may be found in association with certain skeletal dysplasias |
|
|
Term
|
Definition
| an acronym originally coined from the first letters of Toxoplasmosis, Rubella, Cytomegalovirus, and Herpesvirus type 2. O stands for other transplacental infections |
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