Sequencing of Circulating Cell-free DNA During Pregnancy

Bianchi, D. W.; Chiu, Rossa W.K.

doi:10.1097/01.aoa.0000552918.35824.84

Cited by 31 publications

(46 citation statements)

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“…However, this task may be difficult because the DR, PPV, and other metrics for 22q11.2 detection in cffDNA are still not clearly defined. 66,67 The PPV of cffDNA for this microdeletion in all samples varies from 0%, 5%, 9%, 18%, 21% to 96%. [68][69][70][71][72][73] In the presence of ultrasound findings, the PPV is higher, reaching 82% to 89%.…”

Section: Prenatal Ultrasound Findingsmentioning

confidence: 99%

Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

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Section: Prenatal Ultrasound Findingsmentioning

confidence: 99%

Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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“…10 However, although NIPT is a great potential tool, clinical practice standards still recommend confirmation of positive NIPT screening results with a diagnostic karyotype or chromosomal microarray analysis. [11][12][13][14] The reduction in the number of procedures will very likely lead to a centralisation in referral centres with a particular expertise in invasive procedures, where operators' competency can be maintained by carrying out adequate number of ultrasound-guided invasive…”

Section: Resultsmentioning

confidence: 99%

A survey of current clinical practice of chorionic villus sampling

2019

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Objective The number of invasive procedures (chorionic villus sampling (CVS) or amniocentesis) for fetal testing is decreasing because of the availability of non‐invasive prenatal test (NIPT) leading to a centralisation of prenatal diagnostic services to accredited fetal medicine centres. A new survey was conducted 10 years after the previous one to update the current clinical practice among clinicians who regularly perform CVS. Method Consultants from 32 centres in the United Kingdom were invited to take part in an online survey evaluating: The total number of CVS procedures carried out in the unit in a typical week, the preferred route (transabdominal [TA] vs transcervical [TC]), technique (use of local anaesthetic [LA] and needle technique). Results Response rate was 96.9%; TA was the preferred route (96.8%) in all centres except one. Single‐needle technique is used exclusively in half the centres (51.6%). LA is used by most operators (90.3%) before the procedure. Three centres did not routinely use LA for CVS. Conclusions Operators across the United Kingdom almost exclusively use the TA route for CVS with single‐needle technique in 51.6% of cases. The use of LA prior to CVS is a very common practice in the United Kingdom.

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“…In this era of genomic medicine, prenatal screening is predicted to expand into fetal genomic sequencing. 46 The cost of sequencing is significantly reduced compared to Most pregnant women prefer to have the choice whether to learn about their fetus' s genetic risks, even if they do not elect to pursue it, but there are systemic challenges to ensuring informed decision-making.…”

Section: Prenatal Screeningmentioning

confidence: 99%

The Psychological Well‐being of Pregnant Women Undergoing Prenatal Testing and Screening: A Narrative Literature Review

Biesecker¹

2019

Hastings Center Report

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Prenatal screening and testing are preference‐based health care options. They are offered so that pregnant women and their partners can learn genetic information about the developing fetus. In this literature review, I summarize studies of women’s and their partners’ psychological responses to prenatal testing and screening. These studies investigate the experiences of pregnant women, largely in the United States, who have access to health care services. Although the results indicate that these women are receptive to prenatal testing and screening and seem to have limited negative psychological consequences, pregnant women without access to these services are not represented and may have different experiences. With that caveat in mind, based on the evidence, women generally do well psychologically as they manage the options that arise for them in the prenatal context.

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Sequencing of Circulating Cell-free DNA During Pregnancy

Cited by 31 publications

References 0 publications

Fetal cardiac abnormalities: Genetic etiologies to be considered

Fetal cardiac abnormalities: Genetic etiologies to be considered

A survey of current clinical practice of chorionic villus sampling

The Psychological Well‐being of Pregnant Women Undergoing Prenatal Testing and Screening: A Narrative Literature Review

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