Abstract
To retrospectively evaluate the successful test rate and performance of non-invasive
prenatal screening (NIPS) for aneuploidies and microdeletions with international transportation
of samples. Blood samples from Iberian women with singleton pregnancies were sent
to a US laboratory for NIPS for aneuploidy and microdeletion syndromes (22q11.2, 1p36,
Cri-du-chat, Prader Willi and Angelman). The NIPS methodology involved the analysis
of single nucleotide polymorphisms in cell-free DNA in maternal plasma. Women with
high-risk results were offered karyotyping and/or microarray confirmatory studies.
Based on 14,175 women with successful testing (98.76% of all referrals), the overall
test positive rate was 2.37% (1.9% for aneuploidy and 0.47% for microdeletion syndromes).
Based on cases with known outcome, the positive predictive values (PPVs) were: for
trisomy 21, 98.6%; trisomy 18, 85.7%; trisomy 13, 71.4%; monosomy-X, 87.5%; other
sex chromosome aneuploidies, 100%; 22q11.2 deletion, 15.4%; and other microdeletions
combined, 20%. With a protocol change that involved selective use of resequencing
at a higher depth of read, the PPV for 22q11.2 deletion increased to 33.3 and 75%
for the other microdeletions. Effective NIPS for both aneuploidies and select microdeletion
syndromes can be provided even when this involves international transportation of
blood specimens.
Keywords Non-invasive prenatal screening - Autosomal trisomy - Sex chromosome abnormality -
Microdeletion syndromes - Detection rate - False-positive rate - Positive predictive
value
