Combined first‐trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT
Article Swipe
Kasper Gadsbøll
,
Ida Vogel
,
S. E. Kristensen
,
Lars Henning Pedersen
,
Jon Hyett
,
Olav Bjørn Petersen
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/uog.27667
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/uog.27667
Objectives Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy‐number variants (pCNVs). We also wanted to quantify the performance of combined first‐trimester screening (cFTS) and a second‐trimester anomaly scan in detecting these aberrations. Finally, we aimed to estimate the consequences of a policy of using non‐invasive prenatal testing (NIPT) rather than invasive testing with chromosomal microarray analysis (CMA) to manage pregnancies identified as high risk by cFTS. Methods This was a retrospective review of the Danish Fetal Medicine Database of all pregnant women who underwent cFTS and a risk assessment for trisomy 21 between 1 January 2008 and 31 December 2018. Chromosomal aberrations diagnosed prenatally, postnatally or from fetal tissue following pregnancy loss or termination of pregnancy were identified. Chromosomal aberrations were grouped into one of six categories: triploidy; common trisomy (13, 18 or 21); monosomy X; other sex‐chromosome aberration (SCA); pCNV; and rare autosomal trisomy (RAT) or mosaicism. The prevalence of each aberration category was stratified by the individual cFTS markers and trisomy 21 risk estimate, and the size of each pCNV diagnosed by CMA was calculated. Results We retrieved data on 565 708 pregnancies, of which 3982 (0.70%) were diagnosed with a fetal chromosomal aberration. cFTS identified 87% of the common trisomies, but it also performed well in identifying triploidies (86%), monosomy X (92%), atypical SCAs (58%) and RATs or mosaicisms (70%). pCNVs comprised 27% ( n = 1091) of the chromosomal aberrations diagnosed overall, and the prevalence increased during the study period, as prenatal CMA was increasingly being performed. In pregnancies with a maternal age < 30 years, nuchal translucency (NT) thickness ≤ 95 th centile, pregnancy‐associated plasma protein‐A (PAPP‐A) ≥ 1 multiple of the median, or trisomy 21 risk of ≤ 1 in 1000, the prevalence of pCNVs exceeded significantly the prevalence of trisomies 21, 18 and 13. Pregnancies affected by a pCNV had significantly increased NT and decreased levels of the maternal biomarkers PAPP‐A and β‐human chorionic gonadotropin compared with unaffected pregnancies. However, only 23% of these pregnancies screened positive on cFTS and 51% of pCNVs were not detected until after birth. Among high‐risk pregnancies, pCNVs comprised 14% of diagnosed aberrations, and when other atypical aberrations were considered, conventional NIPT (screening for trisomies 21, 18 and 13 and monosomy X) would miss 27% of all pathogenic aberrations diagnosed from invasive testing following a high‐risk cFTS result. Thus, 1 in 26 pregnancies at high risk following cFTS would be affected by a chromosomal aberration despite a normal result from conventional NIPT. In a contingent screening model using NIPT for the ‘intermediate’‐risk group (trisomy 21 risk of 1 in 100–299), 50% of the aberrations would be missed. In our cohort, 79% of the pCNVs diagnosed were < 5Mb and therefore not detectable using current forms of ‘genome‐wide’ NIPT. Conclusions As a by‐product of screening for trisomies 21, 18 and 13, most triploidies and the majority of atypical SCAs, RATs and mosaicisms are detected before birth. However, only 23% of pCNVs are associated with a high‐risk result according to cFTS and only half are diagnosed before birth. Replacing invasive testing with NIPT for high‐risk pregnancies would substantially decrease the first‐trimester detection of pathogenic chromosomal anomalies. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Related Topics
Concepts
Danish
Prenatal screening
First trimester
Obstetrics
Medicine
Prenatal diagnosis
Pregnancy
Biology
Genetics
Fetus
Philosophy
Linguistics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/uog.27667
- OA Status
- hybrid
- Cited By
- 11
- References
- 35
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4394974012
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4394974012Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/uog.27667Digital Object Identifier
- Title
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Combined first‐trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with
NIPT Work title - Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
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2024-04-20Full publication date if available
- Authors
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Kasper Gadsbøll, Ida Vogel, S. E. Kristensen, Lars Henning Pedersen, Jon Hyett, Olav Bjørn PetersenList of authors in order
- Landing page
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https://doi.org/10.1002/uog.27667Publisher landing page
- Open access
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://doi.org/10.1002/uog.27667Direct OA link when available
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Danish, Prenatal screening, First trimester, Obstetrics, Medicine, Prenatal diagnosis, Pregnancy, Biology, Genetics, Fetus, Philosophy, LinguisticsTop concepts (fields/topics) attached by OpenAlex
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11Total citation count in OpenAlex
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2025: 8, 2024: 3Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.21 | 104, 176, 293, 439 |
| abstract_inverted_index.26 | 406 |
| abstract_inverted_index.30 | 271 |
| abstract_inverted_index.31 | 110 |
| abstract_inverted_index.95 | 278 |
| abstract_inverted_index.As | 474 |
| abstract_inverted_index.In | 264, 427, 452 |
| abstract_inverted_index.NT | 322 |
| abstract_inverted_index.We | 24, 191 |
| abstract_inverted_index.X) | 386 |
| abstract_inverted_index.X; | 148 |
| abstract_inverted_index.an | 14 |
| abstract_inverted_index.as | 74, 257 |
| abstract_inverted_index.at | 408 |
| abstract_inverted_index.be | 414, 450 |
| abstract_inverted_index.by | 13, 77, 169, 186, 316, 416, 549 |
| abstract_inverted_index.in | 41, 221, 298, 405, 443, 544, 562 |
| abstract_inverted_index.it | 217 |
| abstract_inverted_index.of | 10, 31, 52, 55, 85, 91, 127, 137, 163, 182, 198, 212, 243, 288, 295, 302, 308, 326, 342, 351, 365, 390, 441, 446, 456, 470, 477, 490, 503, 535, 557, 560 |
| abstract_inverted_index.on | 19, 194, 347, 555 |
| abstract_inverted_index.or | 118, 125, 145, 159, 233, 291 |
| abstract_inverted_index.th | 279 |
| abstract_inverted_index.to | 5, 27, 48, 70, 512 |
| abstract_inverted_index.we | 46 |
| abstract_inverted_index.© | 539 |
| abstract_inverted_index.13, | 484 |
| abstract_inverted_index.13. | 313 |
| abstract_inverted_index.14% | 364 |
| abstract_inverted_index.21, | 310, 380, 481 |
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| abstract_inverted_index.27% | 238, 389 |
| abstract_inverted_index.50% | 445 |
| abstract_inverted_index.51% | 350 |
| abstract_inverted_index.565 | 195 |
| abstract_inverted_index.5Mb | 462 |
| abstract_inverted_index.708 | 196 |
| abstract_inverted_index.79% | 455 |
| abstract_inverted_index.87% | 211 |
| abstract_inverted_index.CMA | 187, 259 |
| abstract_inverted_index.Ltd | 554 |
| abstract_inverted_index.Our | 2 |
| abstract_inverted_index.The | 161, 541 |
| abstract_inverted_index.age | 269 |
| abstract_inverted_index.aim | 3 |
| abstract_inverted_index.all | 92, 391 |
| abstract_inverted_index.and | 36, 98, 109, 154, 174, 179, 231, 249, 312, 323, 331, 349, 368, 382, 384, 463, 483, 487, 494, 514, 564 |
| abstract_inverted_index.are | 496, 505, 517 |
| abstract_inverted_index.but | 216 |
| abstract_inverted_index.for | 102, 378, 434, 479, 526 |
| abstract_inverted_index.had | 319 |
| abstract_inverted_index.not | 354, 465 |
| abstract_inverted_index.one | 136 |
| abstract_inverted_index.our | 453 |
| abstract_inverted_index.six | 138 |
| abstract_inverted_index.the | 7, 29, 50, 86, 170, 180, 213, 244, 250, 254, 289, 300, 306, 327, 435, 447, 457, 488, 532 |
| abstract_inverted_index.was | 4, 81, 167, 188, 260 |
| abstract_inverted_index.who | 95 |
| abstract_inverted_index.≤ | 277, 296 |
| abstract_inverted_index.≥ | 285 |
| abstract_inverted_index.< | 270, 461 |
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| abstract_inverted_index.(NT) | 275 |
| abstract_inverted_index.2008 | 108 |
| abstract_inverted_index.2024 | 540 |
| abstract_inverted_index.21); | 146 |
| abstract_inverted_index.3982 | 200 |
| abstract_inverted_index.John | 550 |
| abstract_inverted_index.NIPT | 376, 433, 525 |
| abstract_inverted_index.RATs | 232, 493 |
| abstract_inverted_index.SCAs | 229 |
| abstract_inverted_index.Sons | 553 |
| abstract_inverted_index.This | 80 |
| abstract_inverted_index.also | 25, 218 |
| abstract_inverted_index.cFTS | 97, 172, 209, 348, 401, 412, 513 |
| abstract_inverted_index.data | 193 |
| abstract_inverted_index.each | 164, 183 |
| abstract_inverted_index.from | 119, 395, 424 |
| abstract_inverted_index.half | 516 |
| abstract_inverted_index.high | 75, 409 |
| abstract_inverted_index.into | 135 |
| abstract_inverted_index.loss | 124 |
| abstract_inverted_index.miss | 388 |
| abstract_inverted_index.most | 485 |
| abstract_inverted_index.only | 340, 501, 515 |
| abstract_inverted_index.pCNV | 184, 318 |
| abstract_inverted_index.rare | 155 |
| abstract_inverted_index.risk | 76, 100, 177, 294, 410, 440 |
| abstract_inverted_index.scan | 40 |
| abstract_inverted_index.size | 181 |
| abstract_inverted_index.than | 62 |
| abstract_inverted_index.well | 220 |
| abstract_inverted_index.were | 129, 133, 202, 353, 373, 460 |
| abstract_inverted_index.when | 369 |
| abstract_inverted_index.with | 65, 204, 266, 336, 507, 524 |
| abstract_inverted_index.& | 546, 552 |
| abstract_inverted_index.(58%) | 230 |
| abstract_inverted_index.(CMA) | 69 |
| abstract_inverted_index.(RAT) | 158 |
| abstract_inverted_index.1000, | 299 |
| abstract_inverted_index.1091) | 242 |
| abstract_inverted_index.2018. | 112 |
| abstract_inverted_index.Among | 359 |
| abstract_inverted_index.Fetal | 88 |
| abstract_inverted_index.NIPT. | 426, 472 |
| abstract_inverted_index.SCAs, | 492 |
| abstract_inverted_index.Thus, | 403 |
| abstract_inverted_index.Wiley | 551 |
| abstract_inverted_index.after | 357 |
| abstract_inverted_index.aimed | 47 |
| abstract_inverted_index.being | 262 |
| abstract_inverted_index.cFTS. | 78 |
| abstract_inverted_index.fetal | 120, 206 |
| abstract_inverted_index.forms | 469 |
| abstract_inverted_index.group | 437 |
| abstract_inverted_index.model | 431 |
| abstract_inverted_index.other | 149, 370 |
| abstract_inverted_index.pCNV; | 153 |
| abstract_inverted_index.pCNVs | 236, 303, 352, 362, 458, 504 |
| abstract_inverted_index.study | 255 |
| abstract_inverted_index.these | 43, 343 |
| abstract_inverted_index.until | 356 |
| abstract_inverted_index.using | 56, 432, 467 |
| abstract_inverted_index.which | 199 |
| abstract_inverted_index.women | 94 |
| abstract_inverted_index.would | 387, 413, 449, 529 |
| abstract_inverted_index.(70%). | 235 |
| abstract_inverted_index.(86%), | 224 |
| abstract_inverted_index.(92%), | 227 |
| abstract_inverted_index.(NIPT) | 60 |
| abstract_inverted_index.(SCA); | 152 |
| abstract_inverted_index.(cFTS) | 35 |
| abstract_inverted_index.Danish | 87 |
| abstract_inverted_index.before | 498, 519 |
| abstract_inverted_index.behalf | 556 |
| abstract_inverted_index.birth. | 358, 499, 520 |
| abstract_inverted_index.common | 141, 214 |
| abstract_inverted_index.during | 253 |
| abstract_inverted_index.levels | 325 |
| abstract_inverted_index.manage | 71 |
| abstract_inverted_index.normal | 422 |
| abstract_inverted_index.nuchal | 273 |
| abstract_inverted_index.plasma | 282 |
| abstract_inverted_index.policy | 54 |
| abstract_inverted_index.rather | 61 |
| abstract_inverted_index.result | 423, 510 |
| abstract_inverted_index.review | 84 |
| abstract_inverted_index.tissue | 121 |
| abstract_inverted_index.wanted | 26 |
| abstract_inverted_index.years, | 272 |
| abstract_inverted_index.(0.70%) | 201 |
| abstract_inverted_index.January | 107 |
| abstract_inverted_index.Methods | 79 |
| abstract_inverted_index.Results | 190 |
| abstract_inverted_index.Society | 559 |
| abstract_inverted_index.anomaly | 39 |
| abstract_inverted_index.between | 105 |
| abstract_inverted_index.cohort, | 454 |
| abstract_inverted_index.current | 468 |
| abstract_inverted_index.despite | 420 |
| abstract_inverted_index.examine | 6 |
| abstract_inverted_index.grouped | 134 |
| abstract_inverted_index.markers | 173 |
| abstract_inverted_index.median, | 290 |
| abstract_inverted_index.missed. | 451 |
| abstract_inverted_index.period, | 256 |
| abstract_inverted_index.result. | 402 |
| abstract_inverted_index.testing | 59, 64, 397, 523 |
| abstract_inverted_index.trisomy | 103, 142, 157, 175, 292 |
| abstract_inverted_index.(pCNVs). | 23 |
| abstract_inverted_index.(trisomy | 438 |
| abstract_inverted_index.ABSTRACT | 0 |
| abstract_inverted_index.Authors. | 542 |
| abstract_inverted_index.Database | 90 |
| abstract_inverted_index.December | 111 |
| abstract_inverted_index.Finally, | 45 |
| abstract_inverted_index.However, | 339, 500 |
| abstract_inverted_index.Medicine | 89 |
| abstract_inverted_index.PAPP‐A | 330 |
| abstract_inverted_index.affected | 12, 315, 415 |
| abstract_inverted_index.analysis | 68 |
| abstract_inverted_index.atypical | 15, 228, 371, 491 |
| abstract_inverted_index.category | 166 |
| abstract_inverted_index.centile, | 280 |
| abstract_inverted_index.combined | 32 |
| abstract_inverted_index.compared | 335 |
| abstract_inverted_index.decrease | 531 |
| abstract_inverted_index.detected | 355, 497 |
| abstract_inverted_index.estimate | 49 |
| abstract_inverted_index.exceeded | 304 |
| abstract_inverted_index.focusing | 18 |
| abstract_inverted_index.invasive | 63, 396, 522 |
| abstract_inverted_index.majority | 489 |
| abstract_inverted_index.maternal | 268, 328 |
| abstract_inverted_index.monosomy | 147, 225, 385 |
| abstract_inverted_index.multiple | 287 |
| abstract_inverted_index.overall, | 248 |
| abstract_inverted_index.positive | 346 |
| abstract_inverted_index.pregnant | 93 |
| abstract_inverted_index.prenatal | 8, 58, 258 |
| abstract_inverted_index.profiles | 9 |
| abstract_inverted_index.quantify | 28 |
| abstract_inverted_index.screened | 345 |
| abstract_inverted_index.variants | 22 |
| abstract_inverted_index.Replacing | 521 |
| abstract_inverted_index.according | 511 |
| abstract_inverted_index.autosomal | 156 |
| abstract_inverted_index.chorionic | 333 |
| abstract_inverted_index.comprised | 237, 363 |
| abstract_inverted_index.decreased | 324 |
| abstract_inverted_index.detecting | 42 |
| abstract_inverted_index.detection | 534 |
| abstract_inverted_index.diagnosed | 115, 185, 203, 247, 366, 394, 459, 518 |
| abstract_inverted_index.estimate, | 178 |
| abstract_inverted_index.following | 122, 398, 411 |
| abstract_inverted_index.increased | 252, 321 |
| abstract_inverted_index.performed | 219 |
| abstract_inverted_index.pregnancy | 123, 128 |
| abstract_inverted_index.published | 548 |
| abstract_inverted_index.retrieved | 192 |
| abstract_inverted_index.screening | 34, 430, 478 |
| abstract_inverted_index.therefore | 464 |
| abstract_inverted_index.thickness | 276 |
| abstract_inverted_index.trisomies | 309, 379, 480 |
| abstract_inverted_index.underwent | 96 |
| abstract_inverted_index.(PAPP‐A) | 284 |
| abstract_inverted_index.(screening | 377 |
| abstract_inverted_index.Gynecology | 547 |
| abstract_inverted_index.Objectives | 1 |
| abstract_inverted_index.Obstetrics | 545, 563 |
| abstract_inverted_index.Ultrasound | 543, 561 |
| abstract_inverted_index.aberration | 151, 165, 419 |
| abstract_inverted_index.anomalies. | 538 |
| abstract_inverted_index.assessment | 101 |
| abstract_inverted_index.associated | 506 |
| abstract_inverted_index.biomarkers | 329 |
| abstract_inverted_index.contingent | 429 |
| abstract_inverted_index.detectable | 466 |
| abstract_inverted_index.identified | 73, 210 |
| abstract_inverted_index.individual | 171 |
| abstract_inverted_index.microarray | 67 |
| abstract_inverted_index.mosaicism. | 160 |
| abstract_inverted_index.mosaicisms | 234, 495 |
| abstract_inverted_index.pathogenic | 20, 392, 536 |
| abstract_inverted_index.performed. | 263 |
| abstract_inverted_index.prevalence | 162, 251, 301, 307 |
| abstract_inverted_index.stratified | 168 |
| abstract_inverted_index.triploidy; | 140 |
| abstract_inverted_index.trisomies, | 215 |
| abstract_inverted_index.unaffected | 337 |
| abstract_inverted_index.β‐human | 332 |
| abstract_inverted_index.100–299), | 444 |
| abstract_inverted_index.Chromosomal | 113, 131 |
| abstract_inverted_index.Conclusions | 473 |
| abstract_inverted_index.Gynecology. | 565 |
| abstract_inverted_index.Pregnancies | 314 |
| abstract_inverted_index.aberration, | 17 |
| abstract_inverted_index.aberration. | 208 |
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| abstract_inverted_index.calculated. | 189 |
| abstract_inverted_index.categories: | 139 |
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| abstract_inverted_index.high‐risk | 360, 400, 509, 527 |
| abstract_inverted_index.identified. | 130 |
| abstract_inverted_index.identifying | 222 |
| abstract_inverted_index.performance | 30 |
| abstract_inverted_index.postnatally | 117 |
| abstract_inverted_index.pregnancies | 11, 72, 265, 344, 407, 528 |
| abstract_inverted_index.prenatally, | 116 |
| abstract_inverted_index.protein‐A | 283 |
| abstract_inverted_index.termination | 126 |
| abstract_inverted_index.triploidies | 223, 486 |
| abstract_inverted_index.aberrations, | 367 |
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| abstract_inverted_index.pregnancies, | 197, 361 |
| abstract_inverted_index.pregnancies. | 338 |
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| abstract_inverted_index.retrospective | 83 |
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| abstract_inverted_index.substantially | 530 |
| abstract_inverted_index.non‐invasive | 57 |
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