TRONDHEIM, norway (Dagbladet): It is only fosterdiagnostiske centers that are allowed to do fosterdiagnostikk in the first trimester (week 11-14).
Private doctors or midwives are not allowed to measure the nakkeoppklaringen to foster in order to calculate the risk for chromosomal abnormalities, but in many cases they will still see that something is not as it should be. If it is suspected that something is wrong, they can point to a fosterdiagnostisk center.
Those who perform ultralydundersøkelsene must have an international license to be able to calculate the risk for chromosomal abnormalities. This license must be renewed annually.
In Norway today offered fosterdiagnostikk in the first trimester to women over 38 years of age, to women who have previously born children with deviations, if the mother has used drugs that are harmful to the fetus or are in a difficult life situation. Or if it is made an incidental finding on ultrasound.
Then the women offered the following investigations:
Ultrasound
By ultralydundersøkelsen will first see if the fetus is alive and then make measurements of the size for to calculate the svangerskapslengden.
check if there is flerlinger and whether the embryo parts morkake, which provides increased risk for pregnancy.
Full anatomical examination of the fetus. In week 12, one can detect many serious fosteravvik, among other things, lack of brain, hernia of the abdominal wall, the intestines out in the amniotic fluid.
One also measures nakkeoppklaring, which is an indicator for trisomier.
Deviation, at ultralydundersøkelsen form the basis for further investigation to confirm or refute the findings.
KUB-test
KUB-test is a combined ultrasound and blood test. A series of data is plotted into an international computer program, which calculates the risk for trisomier. To get use the program, your doctor must have an international recognition.
KUB-test must be done in the week of 11-14 and are offered to all pregnant women in Denmark and most other western countries. In Norway it is only in women who are over 38 years old or have other special risk factors.
Morkakeprøve/amniocentesis
Invasive tests with a small increase of risk of miscarriage (0.5 percent). The test is used to confirm the discrepancies found in KUB-test or other tests.
Among the most frequent kromosomforstyrrelsene is trisomy. Instead of two versions of the same chromosome, there are three chromosomes. The most well known is trisomy 21, called Down syndrome. The probability of having a child with Down syndrome increases with increasing age of the woman.
NIPT
Blood samples of the mother also contains fetal DNA from the placenta. The test is very accurate for trisomier.
By NIPT, one can also examine the gender of the fetus. It is applicable when hereditary sex-linked disease.
RhD typing of the fetus. Rhesus negative women who carry a rhesus positive fetus receive prophylaxis in order to avoid immunization.
Kopitallsanalyser
Kopitallsanalyser be made out from the morkakeprøve or amniocentesis, and is an analysis of fetal DNA. Kopieringsfeil in DNA can lead to syndromes or injuries of the fetus. Kopitallsanalyse can also be used to look for specific genetic.
Previously did this under the microscope and examined the chromosomes, but now we use kopitallsundersøkelse. Then you can also see if some of the genetic material from one chromosome is moved onto a different chromosome.
It is either balanced or unbalanced, depending on whether the sum of the genes are normal or not. If it is balanced you get a healthy person, but these people again have a slightly increased risk that it may become imbalance when they have children.
You can also find out about a segment of the fetal DNA is repeated many times in the gene. This is associated with the disease. Very many syndromes are caused by such errors, and it has to be examined with kopitallsanalyse.
Exomanalyser
Targeted analysis of the complete fetal active DNA. The whole genmaterialet is called the genome, while the exomet is the active part of the DNA.
This is not an offer in the Uk today.
is Used to look for specific genetic or special patterns in genuttrykket that provides elevated risk for the disease.
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