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Non invasive:
Fetal cells from maternal blood preimplantation embryos (PGD) amniotic fluid (amniocentesis) placenta (chorionic villus tissue) Fetal blood
Invasive:
Invasive techniques
Amniocentesis:
Late second trimester after 15 weeks Early earlier than 15 weeks Abdominal Trans cervical Trans vaginal
karyotype
fish
PCR
Chromosomal aberrations:
Trisomy, Monosomy, Polyploidy, Marker chromosome, Deletion, duplication, inversion, translocation, ring chromosome .
Amniocentesis
First introduced by Serr and Fuchs and Riis in the 1950s for fetal sex determination Only at the late 70th a static ultrasound was used to locate the placenta and amniotic fluid pocket Only In 1983, Jeanty reported a technique of amniocentesis under ultrasound vision
complications
Pregnancy loss 0.3-1.0%. Increase risk:
Needle larger than 18g Multiple needle insertion Discoloration of the fluid High AFP, multiple late abortions, previous vaginal bleeding Placental perforation recent studies didnt find correlation
Complications
Leakage of amniotic fluid (better prognosis than spontaneous leakage) Amnionitis Vaginal bleeding Needle puncture of the fetus Long term complications:
Multiple Gestation
Three methods:
Indigo carmine injection to the first sac A single needle puncture sampling technique
(Jeanty 1990)
Simultaneous visualization of two needles on each side of the separating membrane (BahadoSingh 1992)
Abortion risk probably higher Detailed description of fetus position and placental location
15-30mg each aspiration 20mg ideal for cytogenetic testing 30-40mg for cytogenetic and other direct molecular and biochemical tests
CVS results
Direct analysis examines the trophoblast cells of the placenta (very rapidly dividing cells)
Cultured analysis examines the fibroblast like cells of the villus stroma or mesenchymal core.
Early amniocentesis:
pregnancy loss fetal malformations rate of multiple needle insertions (4.7%) rate laboratory failures (1.8%)
Late amniocentesis:
Low pregnancy loss (0.3-1%) Low rate of multiple needle insertions (1.7%) Low rate laboratory failures (0.2%)
mosaicism
True chromosomal mosaicism is when two or more abnormal cells lines are detected in two or more culture flasks from the same individual. Pseudomosaicism is a term used to describe two abnormal cell lines that are found in only one culture flask (not reported to the patient)
mosaicism
Most often involving trisomic cell and normal cells 1-2% of pregnancies undergoing CVS 0.1% of pregnancies undergoing amniocentesis Clinical outcome of chromosomal mosaicism is strongly dependent on the specific chromosome involved and the number of trisomic cells in both the placenta and the fetus
Mosaicism only in the placenta not affecting the fetus or placental function. Mosaicism only in the placenta not affecting the fetus but alter placental function (IUGR) Trisomy cells are both in the placenta and in the fetus Trisomy cells in the placenta and uniparental disomy in the fetus
Uniparental Disomy
Arises when an individual inherits two copies of a chromosome pair from one parent and no copy from the other parent
Maternal UPD two copies from the mother Paternal UPD two copies from the father
Loss of a chromosome from a trisomic zygote, "trisomic rescue" Duplication of a chromosome from a monosomic zygote, "monosomic rescue" Fertilization of a gamete with two copies of a chromosome by a gamete with no copies of the same chromosome, called gamete complementation.
heterodisomy
isodisomy
molecular UPD testing should be considered for certain chromosomes (including 6, 7, 11, 14, 15) that are known to have adverse phenotypic imprinting effects.
The tissue affected cannot be evaluated The level of trisomy can be only estimated
method of ascertainment
CVS shows that the placenta is affected Amniotic fluid suggests that at least one fetal tissue may be affected Fetal blood sampling confirms the diagnosis of chromosomal mosaicism
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