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76 Cards in this Set

  • Front
  • Back
without/or absence of
towards the top/ topmost
slopped, curved
no brain or head
wide spread eyes
fused fingers/digits
protrusion of menengies and the brain through a congenital defect in the cranium
missing part of iris
no iris
smooth brain
one ventricle in the brain instead of two
fingers are long, slender and curved, resembling a spiders leg
Extra fingers
fetus become endemic and full of fluid
Fetal hydrops
fluid filled, sac at the base of the neck
Cystic hygroma
Caused by external pressure on fetus, results in hip dislocation, pulmonary hypoplasia, atypical facies
Potter’s sequence
too little amniotic fluid --- possibly caused by baby drinking too much AF
too much amniotic fluid--- Possibly caused from baby drinking too little AF (kidney problems)
any type of abnormal proliferation of trophoblasts during pregnancy.
Gestational trophoblastic disease
fetus doesn't form correctly and forms a cancer
69 XXX or XXY
Partial hydatidiform mole
sometimes you get a baby ) (sometimes you get an overrepresentation of male sperm) (two sperm and an egg)
Partial hydatidiform mole
46, XX (empty egg and two sperm)
Complete hydatidiform mole
is any agent that can produce a malformation or raise the population incidence of a malformation
Definition of teratogen
Definition of dysmorphology
abnormal phenotype
Defect of morphogenesis in an organ or structure due to an intrisically abnormal problem with formation, growth, or differentiation of an organ or structure.
• Malformation
Defect resulting from a destructive breakdown of, or interference with, a normally developing structure resulting in death of cells or tissue destruction.
• Disruption
Abrnomal form or position of a body region of the body caused by extrinsic non-distruptive mechanical forces on a normally developing structure (fetal constraint)
• Deformation
Error of mophogenesis due to the abnormal cellular organization of cells into tissues and its morphologic results.
• Dysplasia
• time of exposure
Teratogen exert their influence when differentiation and morphogenesis are at their peak (such as the first 8 weeks of pregnancy)
• Dosage
The dose affecting the fetus is deterined by mother's ability to metabolize the toxic substance (such a maternal diabetes
• genotype of fetus
The use of a specific teratogen can lead to specific phenotypes of children
• maternal genotype
Sometimes the mother's disease can affect the offspring (such as PKU
• Infections
Such as CMV, Rubella, and Toxoplasmosis, Herpies simplex (TORCH)
• maternal disorders
Such as Diabetes Mellitus, PKU, Lupus, Thyroid disease
• drugs of abuse
Alcohol, tobacco, cocaine
• pharmaceutical drugs
Such as Retinoic acid, thalidomide, valproic acid, warfarin
• ionizing radiation
Can cause mental retardation, microcephaly, growth impairment, usually affects germ cells
“High Risk” Pregnancies
--Advanced maternal age (35 years or older)

-- Have a positive maternal serum screen

--have fetal abrnomaltiy detected upon ultrasound

--are carriers of a chromosome abberation (or father does)

-- Had previous child with a chromosome abnormality

-- Other factors
Prenatal Testing Pathway
Abnormal MSAFP--> Positive maternal serum--> diagnostic Ultrasound =>
Amnio not indicated
OR Amniocentesis

-- Maternal marker serum screening is performed at 15-16 weeks gestation
Then Ultrasound
detects aneuploidy of 13, 18, 21, X or Y (can detect ultrasound abrnomalties 85% of the time)
Aneuvysion detects the highest percentage of chromosome abnormalities in what high risk population?
****Detects 71.9% of chromosomeal abrnomalties in Amniocenesis population
****78.% in Avd. Mat. Age
****80% in triple screen
****85% in ultrasound
Complete media
-- has all
--To become complete media, it must have Fetal Calf Serum, or Fetal bovine serum
fetal calf serum
-- used to make complete media and the most common used growth supplement
--Essential component of media, Cells cannot produce by themselves… Must be made every 10 fresh. Is not stable
use of antibiotics
-- stop the growth of fungus, yeast, and bacteria(is optional component)
Use of inverted microscope
---mitotic cells-- dividing cells are round and shiny (doublets are important, it means that there are alive..
---cell density-- flask 70% confluencey / amnio you look at colonies (100 cells )
blocks dopamine receptors in CRTZ
blood borne agents
Aseptic Technique
---Do not touch the bottom 3/4 of a pipet to anything

---Clean work surface before starting work, after spills and after completing each task.

---Avoid talking while working in the biological safety cabinet

---Use of sterile containers
Assess amniotic fluid
• Color
• Should be straw colored in appearance
Assess amniotic fluid
• urine/pH Fern Test
• Urine will have pH <7.0 and have cube shaped crystals on the Fern Test

• Amniotic fluid will have pH of >7.0 and have fern shaped crystals on Fern test
• contaminating blood
• Fetal
• Maternal
 Alkali denaturation test:
• Alkali converts HbA to alkaline hematin, which is insoluble and precipitates. Fetal Hemoglobin (HbF) is more resistant to denaturation in alkaline solution than adult hemoglobin (HbA). (If you don’t get a ppt, then its fetal blood)
Maternal Contamination
--In Amniotic Fluid
Maternal blood is removed from amnio in the first 2-3 mL
Maternal Contamination
remove any maternal decidua and blood clots (dark villi)
Maternal Contamination
For POC,
, only membranes of fetal origin should be identified as fetal material and culture
In Situ Cultures
• Advantages
 Shorter turn-around time

 Relative small cell loss during harvesting allows multiple cultures to be established even when the sample is small.

 The success rate in samples with few cells is increased

 Easier distinction between true mosaicism and pseudomosaicism
• Selecting cultures for harvest
 Must have 70% confluency

 Number and size of colonies (should have at least 5 colonies)

 Presence of dividing cells

 Must feed 24 hours prior to harvest
Amphotericin B, Fungizone, or Mycostatin
used to help prevent fungal infections
used to help prevent yeast contamination, also helps prevent bacterial contamination
used to help prevent bacterial contamination, and is stronger and therefore more toxic than penicillin/streptomycin
used to prevent bacterial contamination
Mixed colony – what to do?
--If one colony has a mixture of abnormal and normal cells, and no other colony shows that abnormality, the abnormal cells are usually considered an in vitro artifact.

--If the first cell examined from a colony shows an abnormality, the technologist must immediately examine other mitotic cells from the same colony.

--The examination of additional cells from the same colony may cease if a normal cell is observed and report a mixed colony.
What if one cell is found to be abnormal?
--When a colony has only one metaphase spread, and score and additional 10-20 colonies only if the abnormality is consistent with a viable numerical or structural mosaicism. If inconsistent, it is considered pseudomosacism.
Follow-up studies for mosaicism
---If detected in a direct CVS preparation, especially if a lethal trisomy, usually not a true mosaicism.

---If abnormality detected in a CVS culture, need amniocentesis confirmation. CVS is placenta tissue derved from fetal but not fetal tissue

---If abnormality detected in amniotic culture
--Usually not followed up if a single culture vessel
--Followed up and ultrasound examination appropriate when:
-physician and family desire confirmation
-only a single culture is available
-poor cytogenetic qulaity
-46,XX/46,XY admixture in multiple cultures

---If normal results on confirmatory studies cannot rule out mosaicism nor ensure a normal outcome of the pregnancy, and if mosaicism is confirmed, the clinical interpretation is uncertain in terms of risk to the fetus, follow up studies will be needed.
Minimum number of colonies to count -
(1 from each 15 different colonies)
Minimum number of cultures to analyze
( analyze 5 colony) or a minimum of 5 cells must be completely analyzed
Band level importance in prenatal and postnatal analysis for constitutional analysis
At least two metaphases, or one metaphase per cell line, demonstrating a minimum of 400 bands per haploid set should be karyotyped
· Chromosomal Abnormalities in Prenatal Chromosome Analysis

Structural Rearrangements
Low risk of mental retardation or birth defect if:
1. balanced rearrangement
2. familial rearrangement
3. familial extra marker

High risk of metal retardation or birth defect if:
1. unbalanced rearrangement
2. De novo rearrangement
3. De novo extra marker
· Chromosomal Abnormalities in Prenatal Chromosome Analysis

Extra marker chromosomes
Should study parents for the relatively common t(11;22) associated with Cat’s Eye Syndrome. Children with this syndrome have an extra marker chromosome determined through family studies to be an extra deleted chromosome 22.

If marker appears to be a new mutation, C-banding, Ag-NOR staining and FISH should be performed.
C-banding will determine dicentricity;
Ag -NOR can be used to determine if satellites are present;
FISH can be used to identify chromosomal origin.
· Chromosomal Abnormalities in Prenatal Chromosome Analysis

Should be followed-up by a detailed ultrasound examination

b. Tetraploidy is a common artifact in monolayer cultures
· Chromosomal Abnormalities in Prenatal Chromosome Analysis

Autosomal monosomy mosaicism
Rare cases have been reported for chromosomes 21 and 22.

Should be considered only if multiple cultures have colonies with the same monosomy.
· Chromosomal Abnormalities in Prenatal Chromosome Analysis

Trisomy masaicism
Occurs in 1/2500 amniotic fluid cells cultures.

The majority of newborns with this prenatal diagnosis have had a normal phenotype; therefore no syndrome has ever been described.
· Chromosomal Abnormalities in Prenatal Chromosome Analysis

Sex chromosome aneuploidy
47,XXX and 47,XXY frequency increase with advancing maternal age and represent 10% of all prenatally detected chromosome abnormalities.

45,X/46,XY Mosaicism
--Known association with Ullrich-Turner syndrome, mixed gonadal dysgenesis, and ambiguous genitalia
--Ultrasound examination imperative because only 5% risk of abnormal sexual differentiation in prenatally diagnosed 45,X/46,XY cases.

45,X/46,XX Mosaicism
--Consistent with a normal phenotype in most instances
-- Suggestion of an increased risk of miscarriage or early menopause in these individuals
Confined placental mosaicism
--Should be confirmed by amniocentesis