Current landscape of prenatal genetic screening and testing

Krstić, Nevena; Običan, Sarah

doi:10.1002/bdr2.1598

Cited by 23 publications

(17 citation statements)

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“…Chromosomal disease is one of the most common causes of birth defects. At present, prenatal screening is an effective method to prevent birth defects [ 1 ]. Traditional serological screening uses pregnant women's serum markers such as AFP, β-hCG, uE3, and inhibin-A to find high-risk pregnant women.…”

Section: Introductionmentioning

confidence: 99%

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Chaohong²,

Tang³

et al. 2021

Mol Cytogenet

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Objective To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy, copy number variation (CNV), and to provide further data for clinical application of NIPT. Materials and methods 25,517 pregnant women who underwent NIPT testing in Anhui Province Maternity and Child Health Hospital from September 2019 to September 2020 were selected, and samples with high-risk test results were subjected to karyotype analysis for comparison by using amniotic fluid, with some samples subjected to further validation by chromosomal microarray analysis, and followed up for pregnancy outcome. Results A total of 25,517 pregnant women who received NIPT, 25,502 cases were tested successfully, and 294 high-risk samples (1.15%) were detected, there were 96 true positive samples, 117 false positive samples and 81 cases were refused further diagnosis. Samples with high risk of autosomal aneuploidy were detected in 71 cases (0.28%), and 51 cases were confirmed, including: trisomy 21 (T21) in 44 cases, trisomy 18 (T18) in 5 cases, and trisomy 13 (T13) in 2 cases; the positive predictive value (PPV) was 91.67%, 45.45%, and 33.33%, respectively, and the negative predictive value was 100%, the false positive rate (FPR) was 0.02%, 0.02%, and 0.02%, respectively.13 samples with high risk of mosaic trisomies 21, 18, and 13 were detected, and 1 case of T21mos was confirmed with a PPV of 8.33%. Samples with high risk of SCA were detected in 72 cases (0.28%), and the diagnosis was confirmed in 23 cases, with a PPV of 41.07% and a FPR of 0.13%. These included 3 cases of 45,X, 6 cases of 47,XXY, 8 cases of 47,XXX and 6 cases of 47,XYY, with PPVs of 12.00%, 50.00%, 72.73%, and 75.00%, respectively, and false-positive rates of 0.09%, 0.02%, 0.01% and 0.01% respectively. Samples with high risk of CNV were detected in 104 cases (0.41%) and confirmed in 18 cases, with a PPV of 32.14% and a FPR of 0.15%. Samples with high risk of other chromosomal aneuploidy were detected in 34 cases (0.13%), and the diagnosis was confirmed in 3 cases, which were T2, T9, and T16 respectively. The overall PPV for other chromosome aneuploidy was 12.50%, with a FPR of 0.08%. Conclusion NIPT is indicated for trisomies 21, 18 and 13 screening, especially for T21. It also has some certain reference value for SCA and CNV, but is not recommended for screening of other chromosomal aneuploidy.

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Section: Introductionmentioning

confidence: 99%

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Chaohong²,

Tang³

et al. 2021

Mol Cytogenet

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“…substantially lower false-positive rates than the combined or quadruple test with the same detection rate for Down syndrome (Krstić & Obićan, 2020;Ravitsky, 2017).…”

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confidence: 87%

“…The diagnosis of a fetus with a genetic condition allows the couple to make an informed decision on the management of their pregnancy. If a genetic condition is identified, pregnancy termination may be planned by choice (Krstić & Obićan, 2020;Ravitsky, 2017), or the couple may have gained time to optimize neonatal outcomes by determining the appropriate facility for delivery and essential healthcare professionals for the care of the baby (American College of Obstetricians & Gynecologists, 2016). According to the American College of Obstetricians and Gynecologists, several prenatal screening tests are available in the first and/or second trimester during the pregnancy.…”

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confidence: 99%

“…Although the cfDNA test has successful testing performance, it is considered as a screening test rather than a diagnostic test due to false-positive and false-negative results (Krstić & Obićan, 2020).…”

mentioning

confidence: 99%

“…Therefore, a procedure such as an amniocentesis or chorionic villus sampling (CVS) should be offered to women who have positive screening with cfDNA testing as the gold standard diagnostic testing (Krstić & Obićan, 2020).…”

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confidence: 99%

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Interventions aiming to improve informed decision on prenatal screening and testing: A scoping review of the literature

Yeşilçınar

Seven

Paşalak

et al. 2021

Journal of Genetic Counseling

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Prenatal screening and testing can be a part of perinatal care that allows couples to have information about their babies' health status before birth to manage the pregnancy and make decisions beforehand (Ravitsky, 2017). While prenatal screening assesses a pregnant woman's chance of having a fetus affected by a genetic condition, prenatal testing (or diagnostic testing) determines whether the fetus has a specific genetic condition. The diagnosis of a fetus with a genetic condition allows the couple to make an informed decision on the management of their pregnancy. If a genetic condition is identified, pregnancy termination may be planned by choice (Krstić & Obićan, 2020;Ravitsky, 2017), or the couple may have gained time to optimize neonatal outcomes by determining the appropriate facility for delivery and essential healthcare professionals for the care of the baby (American College of Obstetricians & Gynecologists, 2016). According to the American College of Obstetricians and Gynecologists, several prenatal screening tests are available in the first and/or second trimester during the pregnancy. The firsttrimester screening test consists of three markers, including maternal serum beta-human chorionic gonadotropin (beta-hCG), maternal serum pregnancy-associated plasma protein-A (PAPP-A), and nuchal translucency (NT) measurement. The combined test consists of these markers, and together with maternal age, it provides a patient-specific risk. The second-trimester quadruple test includes alpha-fetoprotein (AFP), beta-hCG, estriol, and inhibin A (Krstić & Obićan, 2020). The quadruple test is the most common test used for women who had their first prenatal care in the second trimester or decide to undergo screening in the second trimester (Krstić & Obićan, 2020). There are also integrated tests that use markers measured in both first and second trimesters to estimate the chance for Down syndrome. These test options have different detection and false-positive rates. Integrated tests have the advantage of

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In Fetal Therapy, an Obligation to Temper Excitement With Caution

2020

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Innovations in diagnostic techniques, genomic analysis, stem cell treatments, and gene therapies have the potential to revolutionize our approach to many birth defects and genetic diseases that we are presently able to manage only after birth. In their review of gene and stem cell therapies for fetal care in this issue of JAMA Pediatrics, O'Connell et al 1 provide a comprehensive perspective on current practice and the probable future for affected pregnancies. Many of the treatments described are presently at the experimental stage. In the theoretical case study of corrected hemophilia before birth, the authors describe a powerful and exciting example of future therapies that build on our current ability to screen for genetic disorders with cell-free DNA (cfDNA). However, we seek to temper some of this excitement with a review of the uncertainties and current limitations of existing fetal therapies and cfDNA testing, as well as a discussion of additional ethical considerations.

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Current landscape of prenatal genetic screening and testing

Cited by 23 publications

References 73 publications

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Interventions aiming to improve informed decision on prenatal screening and testing: A scoping review of the literature

In Fetal Therapy, an Obligation to Temper Excitement With Caution

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