Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

Opstal, Diane Van; Srebniak, Malgorzata I.

doi:10.1586/14737159.2016.1152890

Cited by 61 publications

(75 citation statements)

References 45 publications

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“…In this paper, we describe the results of cytogenetic investigations by SNP array of 10 term placentas that were primarily performed for cytogenetic confirmation of abnormal results of genome‐wide NIPT as previously suggested . These studies confirm that the abnormal NIPT results are caused by a placental trisomy, which makes another potential source like a maternal malignancy fairly unlikely.…”

Section: Discussionsupporting

confidence: 59%

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

et al. 2018

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ObjectiveNon‐invasive prenatal testing (NIPT) detects placental chromosome aberrations. When amniocentesis reveals a normal karyotype, confined placental mosaicism (CPM) may be assumed. In order to confirm this, placental cytogenetic studies were performed.MethodNIPT was conducted in the course of the Dutch TRIDENT study. Placentas of 10 cases with NIPT results indicating an autosomal trisomy and showing a normal (N = 9) or low mosaic karyotype (N = 1) in amniotic fluid (AF) were investigated. The cytotrophoblast as well as the mesenchymal core of two to four placental chorionic villi biopsies were studied with single nucleotide polymorphism (SNP) array. Clinical outcome data were collected.ResultsIn 10/10 cases, CPM was proven. In 3/10 cases trisomy/uniparental disomy (UPD)/biparental disomy (BPD) mosaicism was discovered. In 2/3 cases, all three cell lines were present in the placenta, whereas BPD was found in AF. In 1/3 cases trisomy 22/UPD22 was present in AF while trisomy 22/BPD22 mosaicism was found in the placenta. Five of 10 pregnancies were affected with pre‐eclampsia, low birth weight, preterm delivery, and/or congenital malformations.ConclusionThe presence of trisomy/UPD/BPD mosaicism in 3/10 cases that we investigated proves that trisomic zygote rescue may involve multiple rescue events during early embryogenesis. UPD mosaicism, when present in crucial fetal tissues, may explain the abnormal phenotype in undiagnosed cases.

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Section: Discussionsupporting

confidence: 59%

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

et al. 2018

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“…The need to perform invasive testing in these cases, and if so either with CVS or AS, will be discussed between laboratory specialists and clinicians on a case to case base. The advice to the parents will depend on gestational age, type of chromosome anomaly, presence or absence of ultrasound findings and parental preferences 34, 37. This is a new area of research into possible additional clinical value of NIPT beyond trisomy 21, 13 and 18.…”

Section: Discussionmentioning

confidence: 99%

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

et al. 2016

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ObjectiveTo evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study).MethodWomen with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn‐around time and pregnancy outcome.ResultsBetween 1 April and 1 September 2014, 1413/23 232 (6%) women received a high‐risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy‐nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn‐around time was 14 days. Follow‐up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%.ConclusionIntroduction of NIPT in the Dutch National healthcare‐funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

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“…If a mosaic result of the suspected aneuploidy is found with CVS, further testing is required to differentiate CPM from true fetal mosaicism . This testing can include amniocentesis for a second cell line or investigation of cytotrophoblast and mesenchymal core separately as suggested by Van Opstal (2016) …”

Section: Discussionmentioning

confidence: 99%

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

et al. 2017

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22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11.2 deletion. Maternal and postnatal neonatal peripheral blood cytogenetic, PCR, and fluorescence in situ hybridization studies were normal, but the placenta was mosaic for 22q11.2 deletion in two of three biopsy sites. This case illustrates both the complexities of pre- and post-test counseling for microdeletion screening and the potential for a discordant positive microdeletion result because of confined placental mosaicism. © 2017 John Wiley & Sons, Ltd.

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Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

Cited by 61 publications

References 45 publications

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

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