Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non‐invasive prenatal testing?

Diemel, B. D. M.; Koster, Maria P. H.; Manten, G. T. R.; Siljee, Jacqueline E.; Schuring-Blom, G. Heleen; Page-Christiaens, G. C. M. L.

doi:10.1002/pd.4589

Cited by 22 publications

(33 citation statements)

References 43 publications

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“…However, our study confirms the previously published data by Lichtenbelt and colleagues [48] and shows that because of current limitations of NIPT (depending on the type of analysis) in ca. 2–10 % of cases with an enlarged NT a chromosome aberration will be missed by non-invasive testing.…”

Section: Discussionsupporting

confidence: 93%

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

et al. 2016

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BackgroundSince non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well.Method362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array.ResultsAfter invasive testing a chromosomal abnormality was detected in 137/362 (38 %) fetuses. 100/362 (28 %) cases concerned trisomy 21, 18 or 13, 25/362 (7 %) an aneuploidy of sex chromosomes and 3/362 (0.8 %) triploidy. In 6/362 (1.6 %) a pathogenic structural unbalanced chromosome aberration was seen and in 3/362 (0.8 %) a susceptibility locus for neurodevelopmental disorders was found. We estimated that in 2–10 % of fetuses with enlarged NT a chromosome aberration would be missed by current NIPT approaches.ConclusionBased on our cohort of fetuses with enlarged NT we may conclude that NIPT, depending on the approach, will miss chromosome aberrations in a significant percentage of pregnancies. Moreover all abnormal NIPT results require confirmatory studies with invasive testing, which will delay definitive diagnosis in ca. 30 % of patients. These figures are important for pretest counseling enabling pregnant women to make informed choices on the prenatal test. Larger cohorts of fetuses with an enlarged NT should be investigated to assess the additional diagnostic value of high resolution array testing for this indication.

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Section: Discussionsupporting

confidence: 93%

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

et al. 2016

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“…While no serious proposals have been made to replace prenatal ultrasounds with cfDNA screening (but see Lichtenbelt et al (2015)), the fact that several women in our study voiced an unprompted concern that cfDNA screening might supplant ultrasound testing reinforces other studies that have documented the powerful effect of ultrasound imaging and the important position it has assumed in the biomedical, cultural, and psychological experience of pregnancy (Garcia et al, 2002; Molander, Alehagen, & Berterö, 2010; Sandelowski, 1994). …”

Section: Discussionsupporting

confidence: 61%

Spanish‐ and English‐Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections

Floyd

Allyse²,

Michie

2016

Journal of Genetic Counseling

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The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers’ advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.

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“…In three fetuses with normal ultrasound findings, a chromosomal anomaly was detected, of which one was a triple X. In three out of 25,057 pregnancies (0.01 %), noninvasive prenatal testing and fetal ultrasound would have missed a chromosomal anomaly that would have been identified by NT measurement [11].…”

Section: Discussionmentioning

confidence: 99%

“…The objective of Lichtenbelt's study was to determine what percentage of fetal chromosomal anomalies remains undetected when first trimester combined testing is replaced by noninvasive prenatal testing for trisomies 13, 18, and 21 [11]. They focused on the added clinical value of nuchal translucency (NT) measurement.…”

Section: Discussionmentioning

confidence: 99%

Has Noninvasive Prenatal Testing (NIPT) Come of Age?

Allahbadia

2015

J Obstet Gynecol India

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Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non‐invasive prenatal testing?

Cited by 22 publications

References 43 publications

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

Spanish‐ and English‐Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections

Has Noninvasive Prenatal Testing (NIPT) Come of Age?

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