Prenatal Diagnosis

Carlson, Laura M.; Vora, Neeta L.

doi:10.1016/j.ogc.2017.02.004

Cited by 124 publications

(69 citation statements)

References 33 publications

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“…Therefore, an accurate and effective method that detects fetuses with high chromosomal aneuploidy risk is necessary to reduce birth defects. Serological screening is the traditional method of prenatal screening, but it has a low detection rate, high false positive rate (FPR), and low positive predictive value (PPV) [2]. Other prenatal diagnosis methods, such as amniocentesis, chorionic villus sampling, and umbilical cord blood sampling, are generally accurate, but the high risk of procedure-related miscarriage may limit their clinical application [3,4].…”

Section: Introductionmentioning

confidence: 99%

Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China

Huang

Wang

et al. 2020

J Assist Reprod Genet

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Purpose To evaluate the noninvasive prenatal testing (NIPT) results of 36,913 cases in Jiangxi province of central China and explore its application value in prenatal screening and diagnosis. Methods This retrospective analysis included 36,913 singleton pregnant women who underwent NIPT because of moderate-/high-risk pregnancy or voluntary requirements between January 2017 and December 2019 in our hospital. Chromosomal abnormalities such as trisomies 21, 18, and 13 (T21, T18, T13) and sex chromosome aneuploidies (SCAs) were judged by standard Z-score analysis. Positive NIPT results were confirmed by amniocentesis and karyotyping. Pregnancy outcomes were followed up via telephone interview. Results A total of 1.01% (371/36,913) positive cases were detected by NIPT, comprising 137, 46, 31, and 157 cases of T21, T18, T13, and SCAs, respectively. A total of 116 of T21, 27 of T18, 13 of T13, and 51 of SCAs were confirmed to be true positive; all normal cases that had been followed up were verified to be true negative. The NIPT sensitivity in T21, T18, T13, and SCAs was 100.00% individually, whereas the specificity was 99.94% (36,488/36,509), 99.95% (36,579/36,598), 99.95% (36,594/36,612), and 99.72% (36,472/36,574), respectively. Furthermore, the negative predictive values of T21, T18, T13, and SCAs were all 100%, while the positive predictive values were 84.67%, 58.70%, 41.94%, and 33.33%, respectively. Conclusion NIPT is highly sensitive and has a low false positive rate in testing clinically significant fetal aneuploidies of general reproductive women. However, this technique cannot substitute for amniocentesis and karyotyping, and detailed genetic counseling is also essential for the high-risk group of NIPT.

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Section: Introductionmentioning

confidence: 99%

Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China

Huang

Wang

et al. 2020

J Assist Reprod Genet

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“…About one of every 150 live births has chromosomal abnormalities and the most common disorder is Down syndrome (trisomy 21). Its incidence increases by maternal age (Carlson & Vora, 2017). Unfortunately, our prenatal efforts to prevent aneuploidies just keep the live birth rates stable over time (Loane et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

“…The solution was the discovery of placenta-derived fetal DNA in maternal plasma (Lo et al, 1997) and fetal aneuploidy detection by next-generation sequencing (NGS) is achieved in 2008 (Chiu et al, 2008;Fan, Blumenfeld, Chitkara, Hudgins, & Quake, 2008). Commercial noninvasive prenatal testing (NIPT) products became publicly available by the year 2011 (Carlson & Vora, 2017).…”

Section: Introductionmentioning

confidence: 99%

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

Koç

Kaya

Özyılmaz

et al. 2019

Molec Gen & Gen Med

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Background Next‐generation sequencing (NGS) and discovery of fetal cell‐free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies. The approach is called “fetal cfDNA screening” and in contrast to noninvasive conventional serum screening, it provides the identification of 98%–99% of fetuses with Down syndrome. Methods Retrospective analysis of targeted noninvasive prenatal testing (NIPT) (Clarigo Test) pregnancies with moderate risk, which we have reported between 2016 and 2018 years is presented. Two separate laboratory workflows and NGS platforms are used for the same targeted NIPT analysis. Results In total, 4,594 pregnant women were investigated. Initial 3,594 cases are studied by MiSeq platform, the last 1,000 cases by NextSeq. Failure rate for MiSeq platform is 10.9% and for NextSeq is 8.7%. Automatically reported cases constitute 75% of the MiSeq group and 87% of the NextSeq group. Conclusions Targeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases.

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“…For screening birth defects or genetic disorders representing from 3% to 5% of all pregnancies many prenatal testing are used. These include serum and carrier screening, ultrasound, and amniocentesis; the goals of these tests are to identify women with pregnancies at high risk of chromosomal abnormalities or birth defects [1]. CVS remains the only diagnostic test available between 10 and 14 weeks of gestation; it is used for diagnostic analyses, including in situ hybridization fluorescence, karyotype, microarray, molecular testing, and gene sequencing.…”

Section: Discussionmentioning

confidence: 99%

Proteomics of the Human First Trimester Chorionic Villi Associated with Anembryonic Pregnancy

Lisitsa

Згода

Петушкова

et al. 2018

BMCRM

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In this study, the proteomic approach based on high performance liquid chromatography connected with tandem mass spectrometry (LC-MS/MS) and bioinformatics analysis were applied to identify differentially abundant proteins in chorionic villus samples (CVS) from women with blighted ovum and normal pregnancy. We identified about 600 proteins in the solubilized fraction of CVS. Comparative proteomic analysis revealed differences in the content (Average Normalized Abundances) of 187 proteins in blighted ovum. These included 134 down-regulated proteins and 53 up-regulated proteins. According to bioinformatics analysis these proteins participate in a variety of metabolic processes, including alcohol and tricarboxylic acid metabolism, response to endoplasmic reticulum stress, small molecular catabolic process, cellular respiration, and others. Proteins that demonstrated growing content in blighted ovum were mainly encoded by genes located on chromosomes 7 and 16 whereas proteins which demonstrated reducing abundance were mainly encoded by genes located on chromosomes 1, 2, and 11. We also revealed changes in the content of proteins encoded by genes located on the human chromosome 18; they are involved in apoptotic and drug metabolic processes with an important role in early pregnancy loss. Our pilot results demonstrate the efficiency of the LC-MS/MS approach for detecting the differences at the qualitative and semi-quantitative levels in the protein profiles of the CVS at anembryonic pregnancy compared to normal gestation. We conclude that globally profiled and differentially regulated proteins of CVS are helpful in obtaining molecular insights into biological processes of the pregnancy pathology.

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Prenatal Diagnosis

Cited by 124 publications

References 33 publications

Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China

Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

Proteomics of the Human First Trimester Chorionic Villi Associated with Anembryonic Pregnancy

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