THE SMART STUDY

This information applies to our research study "Evaluation of NIPT for analysis of chromosomal abnormalities in maternal blood in the first and second trimesters" ("SMART study"). In the research person information version 2-4 it says "The blood sample or swab is then sent for analysis of the chromosomal abnormalities trisomy 13, trisomy 18, trisomy 21, triploidy, the 22q11.2 syndrome and sex chromosome abnormalities". It has never been the intention of the SMART study to analyze all sex chromosomal abnormalities in the children samples and we want to clarify that sex chromosome trisomies have not been analyzed systematically.
Professor Bo Jacobsson, Principal Investigator for the SMART study in Gothenburg, 25 January 2022
Many pregnant women want information about prenatal diagnosis and some choose to undergo a combined test, the CUB test, consisting of an ultrasound scan and a blood test. This test provides an estimate of the probability that the fetus has any of the most common chromosomal abnormalities (trisomy 13, trisomy 18 or trisomy 21). Women whose result indicate a high probability of trisomy 13, 18 or 21 are offered additional diagnostic testing, i.e. a biopsy from the placenta or a test of the amniotic fluid. However, these diagnostic tests raise the risk (less than 0.5% increase) of miscarriage. It is thus important to develop a test that does not increase the risk of miscarriage and that will reduce the number of women who must be offered invasive diagnostic tests.

​A test called NIPT (non-invasive prenatal test) has recently been developed. It analyzes the unborn baby’s DNA in a blood sample from the pregnant woman, in order to assess the probability of fetal chromosomal abnormalities. In this study we will be testing, in addition to the chromosomal abnormalities included in the CUB test, for triploidy, the 22q11.2 syndrome and sex chromosome abnormalities.

​Pregnant women aged 18-50 will be invited to participate in the study after the CUB test. In order to be eligible to participate, you should be at least nine weeks pregnant, be able to understand the information for research subjects and parents, consent to participate and be willing to be informed about the results of the NIPT test. Furthermore, in order to be included in the study, both parents (if there are two) must be able to understand the information and consent to the newborn infant being tested, as well as being able to understand and consenting to receiving information if the analysis indicates that the baby has any of the above-mentioned syndromes.

You will have your results around 14 days after sampling.

You must fulfil the following criteria to participate in the study;
  • You must have read the study information from your midwife in connection with the KUB (combined ultrasound and biochemical screening) performed at the Women's Clinic, Sahlgrenska University Hospital / Östra or at Närhälsan in Gothenburg
  • You are over 18 years of age
  • You are pregnant with one fetus
  • You plan to give birth in a hospital
  • You are willing to undergo NIPT testing to investigate trisomies, sex chromosomes and 22Q11.2 and triplodi
  • You are able to understand patient information and sign consent. Both parents (if there are two) must be able to understand the information and consent to the newborn infant being tested.
  • You are willing to take samples of the child for analysis of trisomies, sex chromosomes, 22Q11.2 and triplodi
  • You must not have become pregnant by egg donation,
  • You must not have undergone organ donation (receiver),
  • You can only participate in the SMART study once.
If you do not fulfil the above requirements, you will be denied participation during the visit. Remember to read the document below "Information for research subjects and parents".

​NB! Inclusion of new study participants ended on Friday 14 December 2018.