All Chromosome Aneuploidy Test

The basic NIPT test examines chromosome 21 trisomy, chromosome 18 trisomy, chromosome 13 trisomy, and sex chromosomes, while the All Chromosome Aneuploidy Test examines all chromosomes from 1 to 22 and all sex chromosomes for aneuploidy.

From the table below, we can say that the chorionic villus sampling is positive at a rate of 0.56%, or about 1 in 200, and the amniotic fluid test is positive at a rate of 0.05%, or about 1 in 2000.

Positive rates of all chromosome aneuploidy
in chorionic villus biopsy and amniotic fluid testing

Trisomy 21, 18, 13Other trisomies
# of samples
in chorionic villus sampling
5.06%
(532 out of 10,511)
0.56%
(59 out of 10,511)
# of samples
in amniotic fluid testing
1.02%
(748 out of 73,268)
0.05%
(30 out of 73,268)
# of samples from
both chorionic villus sampling
and amniotic fluid testing
2.1%
(235 out of 11,066)
0.12%
(13 out of 11,066)

横にスライドできます

1. Konialis C, Pangalos C. Dilemmas in prenatal chromosomal diagnosis revealed through a single center’s 30 years’ experience and 90,000 cases. Fetal Diagn Ther 2015; 38(3):218-232.

2. Comas C, Echevarria M, Rodríguez I, Serra B, Cirigliano V. Prenatal invasive testing: a 13-year single institution experience. J Matern Fetal Neonatal Med 2014 Aug;27(12):1209-12.

Reports by trisomy type that were positive for All Chromosome Aneuploidy Tests
(excluding mosaic)

Trisomy 1Blighted Ovum
Trisomy 2No survival
Trisomy 3No reports of positives
Trisomy 4Rare: No survival
Trisomy 5No survival
Trisomy 6No survival
Trisomy 7No survival
Trisomy 8No survival
Trisomy 9There is a survival case.
Trisomy 10No survival
Trisomy 11No survival
Trisomy 12No survival
Trisomy 13There is a survival case.
Trisomy 14No survival
Trisomy 15There is a survival case.
Trisomy 16No survival
Trisomy 17No survival
Trisomy 18There is a survival case.
Trisomy 19Extremely rare: No survival
Trisomy 20There is a survival case.
Trisomy 21There is a survival case.
Trisomy 22There is a survival case.

Frequently Asked Questions about All Chromosome Testing

Q: Will a full chromosome test show all chromosomal abnormalities in the fetus?

A: The all-chromosome test examines autosomes (chromosomes 1-22) and ” abnormal numbers” such as trisomy, which has three sex chromosomes, and monosomy, which has only one sex chromosome.
Testing for structural abnormalities such as chromosome deletions and duplications as well as abnormalities in the number of chromosomes requires testing for all autosomal whole region partial deletion/duplication disease*.
Please see ‘Test Plans’ for details on the applicable test plan.
For more information on all autosomal whole region partial deletion/duplication diseases, please refer to ‘What is a whole autosomal partial deletion/duplication disease?‘ page.

*Limited, however, to anomalies of 7 million bases or more.

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