The patient in the risk group – is described as a patient who has a higher chance of appearance of pathologies related to the Childbirth/Fetus/Pregnancy. It does not mean that the patient out of the group of risk will definitely get the pathology developed; still it is recommended during the Prenatal Care (pregnancy check-ups) to pay close attention in order to perform the diagnosis of pathologies timely and prevent any complications during the pregnancy.
Such patients who have a high risk of Fetal Chromosomal Abnormalities according to the data of Standard Genetic Screening of the 1st trimester in pregnancy (biochemical blood count + Ultrasound Scan) are recommended to undergo the methods of Invasive Prenatal Diagnosis (e.g. amniocentesis) which are may cause a certain level of risk to the Fetal development and the course of pregnancy. It is completely normal that it will give a pregnant woman additional and undesirable cause for concerns.
The Science is progressing and the scientists have developed a new method of diagnosis – Non-Invasive Prenatal Testing which is available throughout the world now!
During the pregnancy a small amount of child’s DNA is circulating in the maternal bloodstream. Fetal DNA is carrying Genetic Information about the baby and his/her chromosomes. It gives an opportunity to perform a Fetal Chromosome Analysis and to find certain disorders which may affect baby’s health in the future. Technique of Non-Invasive Prenatal Testing consists of the following steps: the extraction of Fetal DNA from the maternal blood samples and its analysis which is ensuring a detection of a wide range of serious and most common Chromosomal Syndromes, such as Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18) or Patau Syndrome (Trisomy 13). Above mentioned testing also is ensuring a detection of the changes in the Number of Sex Chromosomes. Test results are delivered after approximately 14-21 days.
Non-Invasive Prenatal Testing gives a new opportunity to women to receive information about their pregnancy by going through a standard blood test with High Accuracy and minimal risk for them and expected child.
Non-Invasive Prenatal Testing:
- It is performed using Fetal DNA extracted from the maternal blood sample;
- It may be performed from the 9th week of pregnancy;
- It detects the presence of 21 Trisomy, 18 Trisomy and 13 Trisomy;
- It detects Numerical Sex Chromosomal Abnormalities
In a case when Fetal Chromosomal Abnormalities were found then it is necessary to visit a counselling session with a Doctor- Geneticist who will provide explanation about received data and will write a referral to further examinations.