Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study

Hui, Lisa; Pynaker, Cecilia; Bonacquisto, L; Lindquist, Anthea; Poulton, Alice; Kluckow, E; Hutchinson, Briohny; Norris, Fiona; Pertile, Mark D.; Gugasyan, Lucy; Kulkarni, Abhijit; Harraway, James; Howden, A; McCoy, Richard; Costa, Fabrício da Silva; Menezes, Melody; Palma-Dias, Ricardo; Nisbet, Debbie; Martin, Nancy K.; Bethune, Michael; Poulakis, Zeffie; Halliday, Jane

doi:10.1016/j.ajog.2021.03.050

Cited by 23 publications

(17 citation statements)

References 22 publications

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“…Overall, the frequency of a clinically significant condition being detected after prenatal diagnosis in fetuses with NT ≥3.5 mm or ≥99th centile after low-risk NIPT is 3.5%-6.1%. 10,17,20 For those with NT 3.0-3.4 mm or 95th-99th centile, the risk is lower at 1.5%-1.9%.…”

Section: What Is the Chance Of A Chromosome Condition Being Detected ...mentioning

confidence: 99%

“…However, when including all pregnancies with NT 3.0-3.4 mm as the denominator, and not just the subgroup that undergoes prenatal diagnosis, the chance is lower at 0.37% (95% CI 0.05%-1.35%). 20 However, this is still within a range where diagnostic testing is conventionally offered after screening and the option of diagnostic testing may be discussed with parents with this finding in pregnancy.…”

Section: What Is the Chance Of A Chromosome Condition Being Detected ...mentioning

confidence: 99%

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Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?

et al. 2021

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Three decades ago, the observation that first trimester fetuses with excess fluid accumulation at the back of the neck were more likely to be aneuploid, gave rise to a new era of prenatal screening. The nuchal translucency (NT) measurement in combination with serum biomarkers and maternal age, resulted in the first trimester combined screening (FTCS) program. The introduction of noninvasive prenatal testing (NIPT) over the past decade has introduced the option for parents to receive highly sensitive and specific screening information for common trisomy from as early as 10 weeks gestation, altering the traditional pathway FTCS pathway. The retention of the 11–13‐week NT ultrasound remains important in the detection of structural anomalies; however, the optimal management of pregnancies with a low‐risk NIPT result and an isolated increased NT measurement in an era of advanced genomic testing options is a new dilemma for clinicians. For parents, the prolonged period between the initial diagnosis in first trimester, and prognostic information at each successive stage of investigations up to 22–24 weeks, can be emotionally challenging. This article addresses the common questions from parents and clinicians as they navigate the uncertainty of having a fetus diagnosed with an increased NT after a low‐risk NIPT result and presents suggested approaches to management.

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Section: What Is the Chance Of A Chromosome Condition Being Detected ...mentioning

confidence: 99%

Section: What Is the Chance Of A Chromosome Condition Being Detected ...mentioning

confidence: 99%

Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?

et al. 2021

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“…In a large retrospective study that included more than 81,000 pregnancies, Hui et al investigated the outcome of fetuses with an NT measurement above 3.0 mm and above the 99th percentile [ 23 ]. The rate of atypical chromosomal defects detected only by microarray analysis was 2.1% for the NT range between 3.0 and 3.4 mm and 21.5% for measurements ≥ 3.5 mm.…”

Section: Screening For Chromosomal Defectsmentioning

confidence: 99%

Antenatal screening for chromosomal abnormalities

Kagan

Sonek

Kozlowski³

2022

Arch Gynecol Obstet

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Screening for chromosomal disorders, especially for trisomy 21, has undergone a number of changes in the last 50 years. Today, cell-free DNA analysis (cfDNA) is the gold standard in screening for trisomy 21. Despite the advantages that cfDNA offers in screening for common trisomies, it must be recognized that it does not address many other chromosomal disorders and any of the structural fetal anomalies. In the first trimester, the optimal approach is to combine an ultrasound assessment of the fetus, which includes an NT measurement, with cfDNA testing. If fetal structural defects are detected or if the NT thickness is increased, an amniocentesis or a CVS with at least chromosomal microarray should be offered.

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“… 20 Hui et al recently published a retrospective study of women residents of Victoria, Australia, who underwent combined first-trimester screening during the two year period between January 2015 and December 2016. 21 Linkages between statewide results for combined first-trimester screening, prenatal diagnostic procedures, and postnatal cytogenetic results from products of conception and infants up to 12 months of age were applied to confirm frequency and type of chromosome abnormality by gestation and nuchal translucency (NT) measurement. Atypical chromosome abnormality was defined as any major chromosome abnormality other than whole chromosome aneuploidy of chromosomes 21, 18, 13, X, or Y.…”

Section: Prenatal Screening For Fetal Aneuploidymentioning

confidence: 99%

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma

Sherer¹,

Hsieh²,

Hall³

et al. 2022

IJWH

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First-trimester septated cystic hygroma occurs in approximately 1 in 268 pregnancies and has long been associated with a markedly increased risk of fetal aneuploidy and, among euploid fetuses, an increased risk of structural anomalies primarily affecting the cardiac and skeletal systems. Invasive prenatal diagnosis -chorionic villus sampling and/or amniocentesis -encompasses the timehonored clinical tools for the next step in management following prenatal sonographic diagnosis of first-trimester septated cystic hygroma. Currently, prenatal cell-free DNA (cfDNA) screening for fetal aneuploidy with select microdeletions is gradually replacing the considerably less sensitive, and labor-intensive combined first-trimester screening. These new technologies have opened potential new venues in the clinical management of this ominous late first-trimester sonographic diagnosis. Advances in cfDNA technologies are now permitting detection of chromosomal copy number variants (CNV) larger than 7Mb across genome and select serious single-gene disorders (mainly impacting skeletal and neurological development), affecting quality of life and may benefit from medical and/or surgical management. This commentary will address the available non-invasive prenatal screening technologies, which clearly enhance immediate genetic analysis modalities applicable in the presence of the complex sonographic finding of first-trimester septated cystic hygroma.

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Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study

Cited by 23 publications

References 22 publications

Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?

Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?

Antenatal screening for chromosomal abnormalities

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma

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