Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities

Oneda, Beatrice; Steindl, Katharina; Masood, Rahim; Reshetnikova, Irina; Krejci, Pavel; Baldinger, Rosa; Reissmann, Regina; Taralczak, Malgorzata; Guetg, Adriano; Wisser, Josef; Fauchère, Jean‐Claude; Rauch, Anita

doi:10.1016/j.ejogrb.2016.02.042

Cited by 14 publications

(8 citation statements)

References 19 publications

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“…Our study confirms results of previous studies showing that NIPT is a suboptimal test in the presence of fetal anomalies . Indeed, even though we demonstrated that NIPT could “confirm” a significant number of aneuploidies, especially in the population of fetuses with complex CNS anomalies, it also missed a significant number of pathogenic CNVs in fetuses who underwent confirmatory genetic testing: in the group of 29 fetuses with isolated brain anomalies, a pathogenic CNV was seen in one of nine fetuses who underwent further testing and in the group of 18 fetuses with complex brain anomalies, pathogenic CNVs were seen in two of eight who underwent further testing, meaning that the number of missed cases is at least one in 29 (3.4%) but could be as high as two in eight (25%).…”

Section: Discussionsupporting

confidence: 92%

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies

et al. 2019

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Objective:To evaluate the impact of introduction of noninvasive prenatal testing (NIPT) on the uptake of invasive testing in pregnancies complicated by fetal central nervous system (CNS) anomalies. Methods:Retrospective review of all singleton pregnancies complicated by fetal CNS anomalies seen at a single tertiary center between 2010 and 2017. Cases who had undergone invasive testing or NIPT prior to the diagnosis of the CNS anomaly were excluded. Cases were segregated according to whether they were seen prior to introduction of NIPT (group A, 2010-2013) or thereafter (group B, 2014-2017).We examined the rate of invasive and noninvasive genetic testing in each group. Results:We retrieved 500 cases: 308 (62%) were isolated CNS anomalies, and 192

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Section: Discussionsupporting

confidence: 92%

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies

et al. 2019

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“…Concerns have been raised about patient counseling and comprehension related to NIPS testing, which may negatively impact clinical and personal outcomes [8]. While NIPS has superior detection of common aneuploidies (+13, 18, 21) when compared to other screening methods [9], there are known limitations.…”

Section: Discussionmentioning

confidence: 99%

Use of Genetic Testing after Abnormal Screening Ultrasound: A Descriptive Cohort Study

Ainsworth

Holman

Codsi

et al. 2017

Gynecol Obstet Invest

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Background/Aims: The study aimed to characterize the use of genetic testing after abnormal screening ultrasound. Methods: We performed a retrospective review of patients undergoing genetic testing after abnormal ultrasound. Genetic evaluation consisted of noninvasive prenatal screening (NIPS) or amniocentesis. Classification of ultrasound findings, type of genetic testing, and results were collected. Results: A total of 139 subjects underwent genetic evaluation after abnormal screening ultrasound. Screening via NIPS was pursued by 61 (44%) patients while 78 (56%) proceeded directly to amniocentesis. Patients electing for amniocentesis had more cardiac, neurologic, and gastrointestinal malformations while soft markers for aneuploidy prompted more NIPS screening. Results were negative in 85% of the NIPS group compared to 60% of the amniocentesis group. Only 8% of patients who underwent NIPS proceeded to diagnostic testing. Conclusion: Patients pursuing NIPS after abnormal ultrasound had more soft markers of aneuploidy. Patients pursuing diagnostic testing were more likely to have major structural malformations and more total abnormalities identified. Patients who proceeded directly to amniocentesis were more likely to have abnormal genetic testing.

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“…These technologies are currently still limited to studies [83]. The above-described procedure is also valid when previously performed cfDNA testing yielded an abnormal result [84].…”

Section: Fetal Anomaliesmentioning

confidence: 99%

DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures

Kozlowski¹,

Burkhardt

Gembruch³

et al. 2018

Ultraschall in Med

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First-trimester screening between 11 + 0 and 13 + 6 weeks with qualified prenatal counseling, detailed ultrasound, biochemical markers and maternal factors has become the basis for decisions about further examinations. It detects numerous structural and genetic anomalies. The inclusion of uterine artery Doppler and PlGF screens for preeclampsia and fetal growth restriction. Low-dose aspirin significantly reduces the prevalence of severe preterm eclampsia. Cut-off values define groups of high, intermediate and low probability. Prenatal counseling uses detection and false-positive rates to work out the individual need profile and the corresponding decision: no further diagnosis/screening - cell-free DNA screening - diagnostic procedure and genetic analysis. In pre-test counseling it must be recognized that the prevalence of trisomy 21, 18 or 13 is low in younger women, as in submicroscopic anomalies in every maternal age. Even with high specificities, the positive predictive values of screening tests for rare anomalies are low. In the general population trisomies and sex chromosome aneuploidies account for approximately 70 % of anomalies recognizable by conventional genetic analysis. Screen positive results of cfDNA tests have to be proven by diagnostic procedure and genetic diagnosis. In cases of inconclusive results a higher rate of genetic anomalies is detected. Procedure-related fetal loss rates after chorionic biopsy and amniocentesis performed by experts are lower than 1 to 2 in 1000. Counseling should include the possible detection of submicroscopic anomalies by comparative genomic hybridization (array-CGH). At present, existing studies about screening for microdeletions and duplications do not provide reliable data to calculate sensitivities, false-positive rates and positive predictive values.

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Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities

Cited by 14 publications

References 19 publications

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies

Use of Genetic Testing after Abnormal Screening Ultrasound: A Descriptive Cohort Study

DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures

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