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

Kelley, Joanne; McGillivray, George; Meagher, Simon; Hui, Lisa

doi:10.1002/pd.6024

Cited by 13 publications

(13 citation statements)

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“…We select the cases with reference to the updated eligibility criteria from overseas programs (e.g., National Health Service (England) [ 25 ]) and professional society recommendations [ 10 , 11 ]. With the emergence of more and more literature about prenatal presentations of genetic disorders, the selection criteria are also widened to include a fetus with increased nuchal translucency (≥6.5 mm) plus another anomaly and isolated non-immune fetal hydrops [ 25 , 26 , 27 , 28 , 29 ]. Besides, the diagnostic yield may also vary widely across different structural abnormalities, as previous studies reported higher yields in multisystem anomalies, isolated skeletal anomalies and isolated brain anomalies [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies

Hui

Ling

et al. 2022

Genes

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With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year. We established a web-based multidisciplinary team to facilitate case selection among the expert members. We retrospectively analyzed the fetal phenotypes, test results, turnaround time and clinical impact in the first 15 whole exome sequencing and 14 whole genome sequencing. Overall, the molecular diagnostic rate was 37.9% (11/29). De novo autosomal dominant disorders accounted for 72.7% (8/11), inherited autosomal recessive disorders for 18.2% (2/11), and inherited X-linked disorders for 9.1% (1/11). The median turnaround time for ongoing pregnancy was 19.5 days (range, 13–31 days). Our study showed an overall clinical impact of 55.2% (16/29), which influenced reproductive decision-making in four cases, guided perinatal management in two cases and helped future family planning in ten cases. In conclusion, our findings support the important role of genome sequencing services in the prenatal diagnosis of fetal structural anomalies in a population setting. It is important to adopt a multidisciplinary team approach to support the comprehensive genetic service.

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Section: Discussionmentioning

confidence: 99%

Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies

Hui

Ling

et al. 2022

Genes

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“…89 A specific clinical scenario that has arisen in the NIPT era is the management of an isolated increased NT measurement in a pregnant person with a low chance NIPT result. 90 A NT ≥ 3.5 mm is associated with a variety of conditions that are not detectable on NIPT, including atypical chromosome abnormalities, single gene conditions, and structural malformations. Diagnostic testing should therefore be recommended to pregnant patients who have a NT ≥ 3.5 mm at 11-13 weeks gestation, regardless of prior or intended NIPT.…”

Section: Role Of Ultrasound In Non-invasive Prenatal Testingmentioning

confidence: 99%

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Hui

Ellis

Mayen³

et al. 2023

Prenatal Diagnosis

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Key points What is already known about this topic? In 2015, the International Society for Prenatal Diagnosis (ISPD) published its first position statement on the use of non‐invasive prenatal testing (NIPT) to screen for aneuploidy. Widespread uptake across the globe and subsequent published research has shed new light on test performance and implementation issues. What does this study add? This new position statement replaces the 2015 statement with updated information on the current technologies, clinical experience, and implementation practices. As an international organization, ISPD recognizes that there are important population‐specific considerations in the organization of prenatal screening and diagnosis. These opinions are designed to apply to high income settings where prenatal screening for aneuploidy is an established part of antenatal care. This position statement is not a clinical practice guideline but represents the consensus opinion of the current ISPD Board based on the current state of knowledge and clinical practice.

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“…If the NT is increased and/or structural anomalies are found, an invasive test including a microarray analysis or whole‐exome sequencing is more appropriate than NIPT 60 . Performing NIPT before the NT measurement does not allow for the correct identification of these cases and may lead to false reassurance of couples based on the normality of the NIPT results 61,62 . In a study where women with a normal NIPT (for Trisomy 21, 18 and 13) were also offered a first‐trimester scan, an unexpected finding was observed in 3.5% of pregnancies with normal NIPT 63 .…”

Section: First Trimester Screening Strategiesmentioning

confidence: 99%

First‐trimester screening strategies: A balance between costs, efficiency and diagnostic yield

2023

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What's already known about this topic?� An early scan at 11-13 + 6 weeks offers the ideal opportunity for a first detailed anatomical assessment of the fetus.� Non-invasive prenatal testing (NIPT) is superior to the combined test to screen for common trisomies, especially trisomy 21, in both singleton and twin pregnancies. What does this study add?� In first-trimester screening strategies based on NIPT and ultrasound, many factors must be considered when choosing how to combine the two methods. We propose four screening strategies with different pro-and contra arguments.� The article may help choose the strategy that best fits local needs and health economic considerations. | INTRODUCTIONThe introduction of non-invasive prenatal testing (NIPT) by cell-free DNA (cfDNA) has reshaped the way first-trimester screening (FTS) is performed. In several countries NIPT is offered as second line screening, after the combined test (CT) including nuchal translucency (NT) measurement and maternal serum biochemistry (free beta-HCG and PAPP-A). 1 However, there is an increasing tendency to completely replace the CT with NIPT. 2,3 It is undisputed that, in a direct comparison with the CT, NIPT is a superior screening method for common trisomies, especially trisomy 21, in both singleton and twin pregnancies. [4][5][6] The performance diminishes when microdeletions are also tested or a genome-wide approach is offered. 7 In fact, the screen-positive rate increases, the positive predictive value decreases and counseling couples to ensure informed consent becomes more challenging. [8][9][10] The additional value of these expanded menus needs to be balanced against this background. Replacing the CT with NIPT may result in a loss of the opportunity for a first detailed anatomical assessment of the fetus, which is highly valued by women. 11,12 It is known that about 30%-50% of fetal abnormalities can always be detected in the first trimester and that while some are strongly associated with chromosomal aberrations, others are isolated. 13,14 Notably, their prevalence exceeds that of genetic anomalies, especially in younger women who constitute the majority of the reproductive population. 15 Although there is still an ongoing debate, it seems reasonable that screening for structural anomalies should have its own place, next to NIPT, in the current FTS paradigm. 14,[16][17][18][19][20] The primary aim of this commentary is to present four different screening strategies combining NIPT and ultrasound in the first trimester (NIPT after CT, NIPT after a 12-13 weeks anatomical assessment, NIPT without a 12-13 weeks anatomical assessment and NIPT followed by a 12-13-week anatomical assessment) with their pro and contra arguments. We are aware that the ultimate decision on which strategy to offer will be nationally determined by costeffectiveness arguments, availability of local resources, and health policy priorities. We recognize that some pro-and contra-argumentsThis is an open access article under the terms of the Creative Commons Attribution-...

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

Cited by 13 publications

References 67 publications

Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies

Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

First‐trimester screening strategies: A balance between costs, efficiency and diagnostic yield

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