Cell‐free <scp>DNA</scp> testing for prenatal aneuploidy assessment: analysis of professional society statements

Jones, Robert A.; White, Karen; Batey, Annette; Kostenko, E.

doi:10.1002/uog.22120

Cited by 5 publications

(5 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Identification of DNA fragments from the X and Y chromosome are used to provide fetal sex assessment, although this methodology is confounded by several biological phenomena such as placental mosaicism, demise of co-twin in a multiple gestation, or the patient being a recipient of an organ transplant [3]. NIPS is considered a screening test, and confirmation with a diagnostic test is recommended by both genetic and obstetric professional societies around the world [14].…”

Section: Prenatal Testing For Differences Of Sexual Developmentmentioning

confidence: 99%

Differences of sexual development: genetic counseling considerations in the prenatal setting

Chen¹,

Dunleavy

Talreja

et al. 2023

Current Opinion in Obstetrics &Amp; Gynecology

View full text Add to dashboard Cite

Purpose of reviewWith the rapid adoption of noninvasive prenatal screening (NIPS), predictive fetal sex information is available early in pregnancy. This information can conflict with the results of other prenatal tests such as fetal ultrasound or diagnostic testing and raise the possibility of a fetal difference of sexual development (DSD). In this review, we describe recent studies examining the counseling and outcomes of prenatally suspected DSD. Recent findingsDiscordance in prenatal genetic testing results can cause confusion and anxiety in families as expectations of testing are not often discussed in detail prior to testing. There are no established guidelines for the counseling or management of such situations.

show abstract

Section: Prenatal Testing For Differences Of Sexual Developmentmentioning

confidence: 99%

Differences of sexual development: genetic counseling considerations in the prenatal setting

Chen¹,

Dunleavy

Talreja

et al. 2023

Current Opinion in Obstetrics &Amp; Gynecology

View full text Add to dashboard Cite

show abstract

“…7,8 Numerous professional societies, including ISPD, have issued guidance on the implementation of NIPT. 9,10 In some countries, even genome-wide NIPT has become commonplace, 11 while in other countries, NIPT for the common autosomal aneuploidies is not widely accessible. 12…”

Section: Introductionmentioning

confidence: 99%

“…Many health care systems now embrace NIPT in their national screening programs (Belgium, the Netherlands, Denmark, the UK), state or private health insurance schemes (United States), while in other countries NIPT remains entirely patient‐funded 7,8 . Numerous professional societies, including ISPD, have issued guidance on the implementation of NIPT 9,10 . In some countries, even genome‐wide NIPT has become commonplace, 11 while in other countries, NIPT for the common autosomal aneuploidies is not widely accessible 12 …”

Section: Introductionmentioning

confidence: 99%

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Hui

Ellis

Mayen³

et al. 2023

Prenatal Diagnosis

View full text Add to dashboard Cite

Key points What is already known about this topic? In 2015, the International Society for Prenatal Diagnosis (ISPD) published its first position statement on the use of non‐invasive prenatal testing (NIPT) to screen for aneuploidy. Widespread uptake across the globe and subsequent published research has shed new light on test performance and implementation issues. What does this study add? This new position statement replaces the 2015 statement with updated information on the current technologies, clinical experience, and implementation practices. As an international organization, ISPD recognizes that there are important population‐specific considerations in the organization of prenatal screening and diagnosis. These opinions are designed to apply to high income settings where prenatal screening for aneuploidy is an established part of antenatal care. This position statement is not a clinical practice guideline but represents the consensus opinion of the current ISPD Board based on the current state of knowledge and clinical practice.

show abstract

“…However, testing for additional imbalances is variably included in NIPT panels in many clinical settings. 9 Although NIPT for the common autosomal trisomies has been shown to have high sensitivity and specificity in validation studies, the testing is not considered diagnostic and follow-up confirmatory analyses of amniotic fluid cells (AFC) or chorionic villus sampling (CVS) is necessary. From a patient counseling standpoint, it is important to be able to present the probability that a positive result is a true positive (the positive predictive value, PPV) and this differs for each trisomy.…”

Section: Introductionmentioning

confidence: 99%

“…Most of the professional societies (including those in Italy) have recognized NIPT in screening for the common autosomal trisomies but do not yet support testing for additional imbalances. However, testing for additional imbalances is variably included in NIPT panels in many clinical settings 9 …”

Section: Introductionmentioning

confidence: 99%

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Grati¹,

Bestetti

Siero³

et al. 2022

Prenatal Diagnosis

View full text Add to dashboard Cite

Objectives To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods Prenatal diagnostic test results obtained by Italian laboratories between 2013 and March 2020 were compiled for women with positive non‐invasive prenatal tests (NIPT), without an NIPT result, and cases where there was sex discordancy between the NIPT and ultrasound. PPV and other summary data were reviewed. Results Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and recurrent microdeletions (8/55, 14.5%) had the lowest PPVs. PPVs for T21, T18, and T13 were significantly higher when diagnostic confirmation was carried out on chorionic villi (97.5%) compared to amniotic fluid (89.5%) (p < 0.001). In 19/139 (13.9%), of no result cases, a cytogenetic abnormality was detected. Follow‐up genetic testing provided explanations for 3/6 cases with a fetal sex discordancy between NIPT and ultrasound. Conclusions NIPT PPVs differ across the conditions screened and the tissues studied in diagnostic testing. This variability, issues associated with fetal sex discordancy, and no results, illustrate the importance of pre‐ and post‐test counselling.

show abstract

Cell‐free DNA testing for prenatal aneuploidy assessment: analysis of professional society statements

Cited by 5 publications

References 2 publications

Differences of sexual development: genetic counseling considerations in the prenatal setting

Differences of sexual development: genetic counseling considerations in the prenatal setting

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Contact Info

Product

Resources

About