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Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

Author(s): Boormans Elisabeth | Birnie Erwin | Wildschut Hajo | Schuring-Blom Heleen | Oepkes Dick | van Oppen Carla | Nijhuis Jan | Macville Merryn | Kooper Angelique | Huijsdens Karin | Hoffer Mariëtte | Go Attie | Creemers Johan | Bhola Shama | Bilardo Katia | Suijkerbuijk Ron | Bouman Katelijne | Galjaard Robert-Jan | Bonsel Gouke | van Lith Jan

Journal: BMC Pregnancy and Childbirth
ISSN 1471-2393

Volume: 8;
Issue: 1;
Start page: 18;
Date: 2008;
Original page

Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT) has a high accuracy and reliability. However, it is labor intensive, the results take 14–21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challenged the practice of karyotyping. Multiplex ligation-dependent probe amplification (MLPA) is a new molecular genetic technique in prenatal diagnosis. Previous preclinical evidence suggests equivalence of MLPA and traditional karyotyping (TKT) regarding test performance. Methods/Design The proposed study is a multicentre diagnostic substitute study among pregnant women, who choose to have amniocentesis for the indication advanced maternal age and/or increased risk following prenatal screening test. In all subjects, both MLPA and karyotyping will be performed on the amniotic fluid sample. The primary outcome is diagnostic accuracy. Secondary outcomes will be maternal quality of life, women's preferences and costs. Analysis will be intention to treat and per protocol analysis. Quality of life analysis will be carried out within the study population. The study aims to include 4500 women. Discussion The study results are expected to help decide whether MLPA can replace traditional karyotyping for 'low-risk' pregnancies in terms of diagnostic accuracy, quality of life and women's preferences. This will be the first clinical study to report on all relevant aspects of the potential replacement. Trial Registration The protocol is registered in the clinical trial register number ISRCTN47252164
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