Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis.
OBJECTIVE
To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples.


METHODS
A review of 10 years of karyotype results for miscarriages products indicated that 2.7% of nonmosaic chromosome imbalance would not be detected by the molecular approach. The molecular approach was validated on 117 samples in parallel with karyotype analysis; no discrepancies were detected. The molecular approach was implemented in September 2007, and in the first 18 months 500 samples were processed.


RESULTS
In 500 samples, 117 samples (23%) were abnormal. Of these abnormalities, 64% were trisomies, 12% triploid, 11% monosomy X and 13% other abnormalities. When compared to karyotype analysis, the success rate was higher (95% cf 70%) and the reporting time was lower (88% within 28 days cf 79%). In addition, efficiency was higher as labour-intensive cell culture and karyotyping were replaced by batch testing and automated analysis.


CONCLUSIONS
This molecular approach is less labour-intensive, allows a higher sample throughput and has a higher success rate than karyotype analysis; it is therefore an efficient and cost-effective diagnostic testing strategy for miscarriage products.
Donaghue
Celia
C
Cytogenetics Department, GSTS, Guy's and St Thomas' Foundation Hospital Trust, London, UK. celia.donaghue@gsts.com
Mann
Kathy
K
Docherty
Zoe
Z
Mazzaschi
Roberto
R
Fear
Claudine
C
Ogilvie
Caroline
C
D000022:Abortion, Spontaneous / Q000175:diagnosis*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007621:Karyotyping; D016133:Polymerase Chain Reaction / Q000379:methods*; D012189:Retrospective Studies