Second‐trimester prenatal screening for trisomy 21 using biochemical markers: a 7‐year experience in one cytogenetic laboratory

Marical, H.; Douet‐Guilbert, Nathalie; Bages, Karine; Collet, M.; Bris, Marie‐Josée Le; Morel, Frédéric; Braekeleer, Marc De

doi:10.1002/pd.1398

Cited by 4 publications

(4 citation statements)

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“…In one prenatal diagnosis series, 97 aneuploidies were diagnosed in women having invasive testing following a positive Combined test of which 48% were trisomy 21 . In another such series of 79 aneuploidies diagnosed because of a positive second trimester serum screen, the proportion was 49% …”

Section: Discussionmentioning

confidence: 99%

“…5 In another such series of 79 aneuploidies diagnosed because of a positive second trimester serum screen, the proportion was 49%. 6 Some of the prospective studies interpreted the test results in terms of trisomy 18 risk in addition to trisomy 21 risk, and one also included a cut-off for trisomy 13. 7 This will have increased the number of aneuploidies other than trisomy 21 in the screen positive group.…”

Section: Discussionmentioning

confidence: 99%

“…A large fraction will also be due to extreme nuchal translucency and serum marker levels. Cytogenetic laboratories and referral centres have quantified the additional detection when the indication for invasive prenatal diagnosis was a positive Down syndrome screening test . However, such analyses are potentially confounded by multiple indications.…”

Section: Introductionmentioning

confidence: 99%

“…Cytogenetic laboratories and referral centres have quantified the additional detection when the indication for invasive prenatal diagnosis was a positive Down syndrome screening test. 5,6 However, such analyses are potentially confounded by multiple indications. For example, a positive screening test in a woman aged 35 years with ultrasound evidence of a fetal cardiac defect could potentially have three indications.…”

Section: Introductionmentioning

confidence: 99%

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Screening for Down syndrome – incidental diagnosis of other aneuploidies

2014

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Objective Down syndrome screening programmes lead to the prenatal diagnosis of other chromosomal abnormalities, some of which would not be detected by the secondary use of cell-free (cf)DNA testing in screen positives. This study aims to assess the number of these incidental diagnoses.Method This study is a systematic review of the literature to identify large prospective screening studies that reported diagnoses other than trisomies 21 and 18.Results There were ten informative prospective studies in which a total of 1 500 999 women were screened, and there were 3689 aneuploidy cases detected in the screen positives. Trisomy 21 was estimated to comprise only 58% of detected aneuploidies, trisomies 21 and 18 comprised 72%, and the common trisomies -21, 18 and 13 -comprised 76%. Common trisomies and sex chromosome abnormalities, now included in all commercial cfDNA tests, were estimated to comprise 87% of aneuploidies in the Down syndrome screen positives. All these proportions were higher for second trimester protocols compared with those carried out wholly or partly in the first trimester.Conclusion Secondary use of cfDNA testing will lead to about one-fifth reduction in diagnoses, taking account of both undetectable aneuploidies and false-negatives. This loss might be overcome by contingent cfDNA testing.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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