Analysis of cell‐free fetal <scp>DNA</scp> in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population – a systematic review and meta‐analysis

Iwarsson, Erik; Jacobsson, Bo; Dagerhamn, Jessica; Davidson, Thomas; Bernabé, Eduardo; Arnlind, Marianne Heibert

doi:10.1111/aogs.13047

Cited by 107 publications

(98 citation statements)

References 54 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…To the best of our knowledge at the time of writing, this is the first NIPT result leading to a diagnosis of MM in the mother. The expected cancer rate is 1 in 1000 pregnancies with hematological malignancies ranked second in tumor type distribution, and given that more than two million NIPTs have been carried out so far, it may be surprising that more cases have not been reported . Nevertheless, MM was highly unexpected in this pregnant woman as the MM incidence in 40 to 49‐year‐old people is around 2 per 100 000 person‐years.…”

Section: Introductionmentioning

confidence: 88%

An incidental finding of maternal multiple myeloma by non invasive prenatal testing

Imbert‐Bouteille

Chiésa²,

Gaillard³

et al. 2017

Prenatal Diagnosis

View full text Add to dashboard Cite

What is already known about this subject? Non invasive prenatal testing for fetal trisomies 13, 18, and 21 occasionally identifies maternal cancer. What does this study add? A further case of maternal cancer incidentally diagnosed by routine NIPT.Extensive NIPT abnormalities are unlikely to be of fetal origin.Information given to patients should also adequately advise patients on potential incidental findings and might offer the option to opt out of receiving results beyond the trisomy report.International guidelines would improve patient counseling.

show abstract

Section: Introductionmentioning

confidence: 88%

An incidental finding of maternal multiple myeloma by non invasive prenatal testing

Imbert‐Bouteille

Chiésa²,

Gaillard³

et al. 2017

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

“…Since it will soon be possible to sequence the entire fetal genome from free fetal DNA in the maternal circulation, new insights will be achieved in relation to both chromosomal abnormalities and single gene disorders as a cause of sporadic and recurrent miscarriage [37] • Once a structural genetic factor is identified genetic counseling is to be offered…”

Section: Managementmentioning

confidence: 99%

Recurrent Miscarriage: A Review

Barrenetxea¹

2017

RMGO

View full text Add to dashboard Cite

pregnancy events [2]. Clinical miscarriages may be subdivided into early clinical pregnancy losses (before gestational week 12) and late clinical pregnancy losses (gestational weeks 12 to 21). The term miscarriage is preferred rather than abortion both by patients and physicians, although "spontaneous abortion" is still used in scientific literature [3,4].For more than 30 years, controversy has existed on the number of miscarriages required to define RM and when diagnostic testing is warranted [5] EpidemiologyEarly pregnancy loss is perhaps the most common obstetric complication, occurring in over two-thirds of human conceptions. Approximately 15 -20% of all clinically recognized pregnancies will end in a miscarriage [4,9,10]. However, prospective cohort studies using sensitive and specific daily urinary hCG assays in women trying to conceive have demonstrated that only around one-third of conceptions progress to a live birth. Most of the losses occur before the clinical recognition of pregnancy as implantation failures. An estimated 30% of human conceptions are lost prior to implantation and a further 30% following implantation but before the missed menstrual period, that is in the third or fourth week of gestation. These are often termed preclinical losses [11].The risk of sporadic miscarriage between 6 and 12 weeks of gestation in women less than 35 years of age is 9% to 12%. The risk increases with age. In women older than 40 years of age, the sporadic miscarriage rate approaches 50%. Late losses between 12 and 22 weeks occur less frequently and constitute around 4% of pregnancy outcomes [4,9].Compared to sporadic miscarriage the prevalence of RM is considerably lower irrespective of whether biochemical losses are included or not. Approximately 1% of all women trying to conceive have recurrent miscarriage, defined as three previous miscarriages; when recurrent miscarriage is defined as two previous miscarriages, the proportion rises to 3% [12,13]. EtiologyMultiple potential etiologies for RM have been described (Table 1). As a consequence, several recommendations have been published regarding the evaluation and management of RM [3].The potential etiologies of RM can be divided into embryologically driven causes (mainly due to an abnormal embryonic karyotype) and maternally driven causes which affect the endometrium and/or placental development [14,15]. Thus, studies that focus on RM have Barrenetxea G, et al., J Reprod Med Gynecol Obstet 2017 AbstractHuman reproduction is characterized by its inefficiency. The loss of pregnancy at any stage can be a devastating experience and particular sensitivity is required in assessing and counseling couples with Recurrent Miscarriage (RM). Recurrent Miscarriage (RM) represents a clinical challenge for physicians not only because there are multiple possible etiologies, but also because the diagnostic testing is costly and time consuming. Despite several well-known etiologic factors, the cause of RM cannot be determined in almost 50% of cases. Multiple potential etiolo...

show abstract

“…Since 2011, non‐invasive prenatal testing (NIPT) is routinely used for the detection of common fetal trisomies, such as trisomy 21 (T21), 18 (T18) and 13 (T13), demonstrating sensitivity and specificity up to >99% . Several NIPT technologies have been developed for that; including massively parallel sequencing (MPS), chromosome‐selective or targeted sequencing and SNP (single nucleotide polymorphism) based approaches.…”

Section: Introductionmentioning

confidence: 99%

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

et al. 2019

View full text Add to dashboard Cite

Objective The study aimed to validate a whole‐genome sequencing‐based NIPT laboratory method and our recently developed NIPTmer aneuploidy detection software with the potential to integrate the pipeline into prenatal clinical care in Estonia. Method In total, 424 maternal blood samples were included. Analysis pipeline involved cell‐free DNA extraction, library preparation and massively parallel sequencing on Illumina platform. Aneuploidies were determined with NIPTmer software, which is based on counting pre‐defined per‐chromosome sets of unique k‐mers from sequencing raw data. SeqFF was implemented to estimate cell‐free fetal DNA (cffDNA) fraction. Results NIPTmer identified correctly all samples of non‐mosaic trisomy 21 (T21, 15/15), T18 (9/9), T13 (4/4) and monosomy X (4/4) cases, with the 100% sensitivity. However, one mosaic T18 remained undetected. Six false‐positive (FP) results were observed (FP rate of 1.5%, 6/398), including three for T18 (specificity 99.3%) and three for T13 (specificity 99.3%). The level of cffDNA of <4% was estimated in eight samples, including one sample with T13 and T18. Despite low cffDNA level, these two samples were determined as aneuploid. Conclusion We believe that the developed NIPT method can successfully be used as a universal primary screening test in combination with ultrasound scan for the first trimester fetal examination.

show abstract

Analysis of cell‐free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population – a systematic review and meta‐analysis

Cited by 107 publications

References 54 publications

An incidental finding of maternal multiple myeloma by non invasive prenatal testing

An incidental finding of maternal multiple myeloma by non invasive prenatal testing

Recurrent Miscarriage: A Review

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

Contact Info

Product

Resources

About