Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test

Wergifosse, Sidonie de; Bevilacqua, Elisa; Mezela, Iris; Haddad, Sarah El; Gounongbe, Caroline; Marchin, Jérôme de; Maggi, Valeria; Conotte, Stéphanie; Badr, Dominique A.; Fils, Jean‐François; Guizani, Meriem; Jani, Jacques

doi:10.1080/14767058.2019.1686478

Cited by 11 publications

(10 citation statements)

References 35 publications

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“…While there is consensus on the value of screening for common fetal aneuploidies, the utility of screening for atypical fetal anomalies is still hotly debated [39] and is still controversial in the clinical community [40]. Even if the adverse prognosis of these ACAs and the utility of a diagnosis is deemed relevant, they are typically considered too rare to be part of a screening policy.…”

Section: Discussionmentioning

confidence: 99%

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

Kleinfinger

Lohmann

Luscan

et al. 2020

JCM

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Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples—42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls; overall sensitivity was 88.1% (37/42; CI 75.00–94.81) and specificity was 99.3% (145/146; CI 96.22–99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies.

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Section: Discussionmentioning

confidence: 99%

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

Kleinfinger

Lohmann

Luscan

et al. 2020

JCM

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show abstract

“…In recent years, NIPS has been increasingly offered as a public-funded service for women with a positive result by traditional screening in order to reduce the demand for subsequent invasive testing [ 11 , 12 , 31 , 32 ]. Professional guidelines have recommended cfDNA screening for common aneuploidies as a primary test offered to all pregnant women [ 33 , 34 ].…”

Section: Discussionmentioning

confidence: 99%

“…Trisomy 7 was the most frequently observed type of RATs in genome-wide NIPS, accounting for 23% of the 775 RATs cases reported previously [ 10 , 11 , 12 , 13 ]. The frequency was strikingly similar to that reported in the direct analysis of chorionic villi sampling (CVS) [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review

Zhu

Lam²,

Chau

et al. 2020

Genes

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Trisomy 7 is the most frequently observed type of rare autosomal trisomies in genome-wide non-invasive prenatal screening (NIPS). Currently, the clinical significance of trisomy 7 NIPS-positive results is still unknown. We reviewed two independent cohorts from two laboratories where similar NIPS metrics were applied. A total of 70,441 singleton cases who underwent genome-wide NIPS were analyzed, among which 39 pregnancies were positive for trisomy 7, yielding a screen-positive rate of 0.055% (39/70,441). There were 28 cases with invasive testing results available; the positive predictive value (PPV) was 3.6% (1/28). We then searched the published NIPS studies to generate a large cohort of 437,873 pregnancies and identified 247 cases (0.056%) that were screened positive for trisomy 7. The overall PPV was 3.4% (4/118) in the combined data. The presence of uniparental disomy 7 was not detected in the NIPS trisomy 7-positive pregnancies with normal fetal karyotype. Among the 85 cases with pregnancy outcome available in combined data, 88.2% were normal live births, 14.1% had intrauterine growth restriction, preterm birth or low birth weight, 3.5% presented with ultrasound abnormality, and no fetal loss was observed. Our data provide valuable information for counseling and management of trisomy 7-positive NIPS pregnancies.

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“…A study in Belgium, involving 3373 women, reported that GW-cfDNA testing identified additional findings beyond the common trisomies in 28 (0.8%) cases; these included four sex-chromosome aneuploidies, six RATs and one rare autosomal monosomy, none of which was confirmed in the fetus or the neonate, as well as 17 large or sub-microscopic SIs, of which three were confirmed in amniocytes 5 . In all 28 cases, the clinical follow-up was normal.…”

mentioning

confidence: 99%

Genome‐wide cfDNA testing of maternal blood

Jani

Gil

Benachi

et al. 2020

Ultrasound in Obstet & Gyne

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Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test

Cited by 11 publications

References 35 publications

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review

Genome‐wide cfDNA testing of maternal blood

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