Down Syndrome trisomy 13/18/21/XY
Conditions
Interventions
None listed
Sponsors
Onze Lieve Vrouwe Gasthuis
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: pregnant women undergoing amniocentesis the referral indication for amniocentesis is: 1)advanced maternal age, 2) increased risk after prenatal screening tests informed consent is given
Exclusion criteria
Exclusion criteria: patients with other referral indications, e.g. ultrasound abnormalities, previous child with chromosomal berration, structural balanced chromosome aberration of one of the parents. language barrier
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Diagnostic accuracy is assessed through a blind comparison of MLPA against the accepted gold standard (TKT)in a clinical setting. Sensitivity and specificity are calculated and discordant test results are recorded. Technical performance including technical difficulties (i.e. equipment malfunction)and missing or inconclusive results are recorded, as well as missing results due to lack of amniotic fluid. Turnaround time for laboratory processing and availability of test results of MLPA versus TKT, known at laboratory level and patientlevel are recorded. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Anxiety and distress as secondary outcome will be measured by available standardized questionnaires (STAI, PPC, IES, MOS-SF)which also have been used for similar studies(PhD Thesis Muller, 2006 in press; screening for irregular erythrocyte antibodies in pregnancy]. 2. Cost as secondary outcome will focus on medical costs (including implementation and quality control). If relevant the cost-effectiveness of TKT over MLPA will be calculated. 3. Using acommercially available kit(i.e.P095), trisomy 13, 18, 21 and sexchromosome abnormalities will be detected. Firstly, we will focus on detecting trisomy 21 and secondly, chromosomes 13 18, X and Y. The latter can be of uncertain clinical relevance and cause counselling difficulties. A panel will assess these findings and will judge whether they are clinically relevant, irrelevant or of uncertain relevance. This might result in excluding/including probes from/into the MLPA aneuploidy kit in future testing. Differences inemerging unexpected or incomprehensible findings will be described qualitatively taking advantage of a recent study on this issue [VanZwieten,2004]. 4. A standard patientpreference study (so called discrete choice evaluation)will allow quantification of the balance of all (dis)advantages of either test[Ryan,2005]. | — |
Countries
Netherlands
Outcome results
None listed