Prenatal exome sequencing for fetuses with structural abnormalities: the next step

Hillman, Sarah; Willams, D.; Carss, Keren; McMullan, Dominic; Hurles, Matthew E.; Kilby, Mark D.

doi:10.1002/uog.14653

Cited by 63 publications

(50 citation statements)

References 27 publications

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“…Indeed, the relatively high percentage of termination of pregnancy after early detection of anomalies in this study is explained by their severity. Early diagnosis becomes especially important with the introduction of prenatal wide exome sequencing [28,29]. In case of anomalies with normal array comparative genomic hybridization, there is still enough time to carry out this advanced genetic investigation within the legal term for termination in most countries.…”

Section: Discussionmentioning

confidence: 99%

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Bardi

Smith²,

Kuilman³

et al. 2018

Fetal Diagn Ther

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Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and Methods: US scans performed between 11⁺⁰ and 13⁺⁶ weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Results: Of all scans, 38.6% were dating scans and 61.4% were part of first-trimester screening. Anomalies were diagnosed prenatally in 200 (1.8%) fetuses; 81 (0.7%) were chromosomal and 119 (1.1%) were structural. Of all prenatally detected anomalies, 27% (n = 32) were detected at first-trimester scan, with a false-positive rate of 0.04%. All cases of anencephaly (n = 4), encephalocele (n = 2), exomphalos (n = 9), megacystis (n = 4), and limb reduction (n = 1) were diagnosed. First-trimester detection of gastroschisis and congenital heart defects was 67 and 19%, respectively. Conclusion: In a primary care setting, global fetal anatomical assessment at first-trimester scan without following a standardized protocol detects about 30% of all structural anomalies and most of the severe anomalies, with an extremely low false-positive rate. We hypothesize that additional training and use of a systematic protocol would improve early detection of structural anomalies.

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Section: Discussionmentioning

confidence: 99%

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Bardi

Smith²,

Kuilman³

et al. 2018

Fetal Diagn Ther

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“…When uncertain results are found, information may be poorly understood (Hillman et al 2015) and parents often experience distress (Bernhardt et al 2013; Werner-Lin et al 2015). In such cases, even small changes in risk can shape women's risk perception and pregnancy choices (Richards et al 2015).…”

Section: Introductionmentioning

confidence: 99%

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

Walser

Werner‐Lin

Russell

et al. 2016

Journal of Genetic Counseling

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This study aims to explore how couples’ understanding of the nature and consequences of positive prenatal chromosomal microarray analysis (CMA) results impacts decision-making and concern about pregnancy. We interviewed 28 women and 12 male partners after receiving positive results and analyzed the transcripts to assess their understanding and level of concern about the expected clinical implications of results. Participant descriptions were compared to the original laboratory interpretation. When diagnosed prenatally, couples’ understanding of the nature and consequences of copy number variants (CNVs) impacts decision-making and concern. Findings suggest women, but less so partners, generally understand the nature and clinical implications of prenatal CMA results. Couples feel reassured, perhaps sometimes falsely so, when a CNV is inherited from a “normal” parent and experience considerable uncertainty when a CNV is de novo, frequently precipitating a search for additional information and guidance. Five factors influenced participants’ concern including: the pattern of inheritance, type of possible phenotypic involvement, perceived manageability of outcomes, availability and strength of evidence about outcomes associated with the CNV, and provider messages about continuing the pregnancy. A good understanding of results is vital as couples decide whether or not to continue with their pregnancy and seek additional information to assist in pregnancy decision-making.

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“…Early studies performed in pregnancies with ultrasound structural fetal abnormalities have reported conclusive detection rate of 10% in karyotype-and microarray-negative cases (19,20). Targeted mutation testing…”

Section: Genomic Tests In Prenatal Genetic Diagnosismentioning

confidence: 99%

Current practice and future perspective of the Prenatal Genetic Service in Slovenia

Volk

Teran²,

Maver³

et al. 2015

Paediatr Croat

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Prenatal exome sequencing for fetuses with structural abnormalities: the next step

Cited by 63 publications

References 27 publications

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

Current practice and future perspective of the Prenatal Genetic Service in Slovenia

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