De klinische consequentie van QF-PCR bij prenatale diagnostiek.

Habets, E.S. (Elise Sophie) (2013) De klinische consequentie van QF-PCR bij prenatale diagnostiek. thesis, Medicine.

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Abstract

Background: Prenatal diagnosis was introduced in 1960 and can be divided into screening and invasive testing. While screening covers ultrasound scanning and combined testing, prenatal diagnosis uses chorionvillusbiopsy (CVB) and amnioticfluidbiopsy (AF) on which diagnostic testing can be performed. G-banding analysis is still the gold standard, but many more tests have been developed. In 2010 a new test was introduced in our clinic: Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR). It is a reliable test which generates a result within 24 hours of chromosome paires 13, 18, 21 and sex chromosomes. 95% Of all congenital chromosome abnormalities are caused by aneuploidies of one of these chromosome paires. Objective: The aim of our study was to evaluate the clinical consequences of chromosomal testing by using QF-PCR in the Isala Clinics Zwolle. Patients and method: In this retrospective cohort study from the first of January 2010 until the 31th of December 2012, we included all amniocenteses on which QF-PCR was performed in the Isala Clinics Zwolle. If there was a policy change, this was documented as was the cause of the policy change. In addition we evaluated the pregnancy outcome. Results: We included 297 amniocenteses performed on 289 pregnant women. QF-PCR was able to detect 36 abnormalities (12,1%). All trisomic and triploid pregnancies were detected, but sex chromosomal abnormalities were missed twice. There was a policy change in 69/297 (23,2%) cases after prenatal diagnosis of which QF-PCR accounted for 44,9% (31/69), which is 10,4% overall. If only QF-PCR was used 26 cases with a chromosomal abnormality would not have been detected of which eleven were of clinical significance. Almost 75% (168/230) of the pregnant women carried their pregnancy to term and more than 25% (62/230) of the women decided to terminate the pregnancy. Conclusion: The results of QF-PCR were in 10,4% the cause of a policy change in our population. By using this test, all 33 trisomic and triploid pregnancies were detected and 26 chromosomal abnormalities were missed of which two were within the detection range of the test. Eleven of these 26 abnormalities were of clinical significance: a percentage of almost 4% overall.

Item Type:	Thesis (Thesis)
Supervisor name:	Kenkhuis, Drs. M.J.A. and Beekhuis, Dr. J.R.
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:59
Last Modified:	25 Jun 2020 10:59
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/1963

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