Fetal Loss Rate and Associated Risk Factors After Amniocentesis, Chorionic Villus Sampling and Fetal Blood Sampling

Enzensberger, C; Pulvermacher, C.; Degenhardt, J; Kawacki, A.; Germer, U.; Gembruch, Ulrich; Krapp, M.; Weichert, J.; Axt-Fliedner, R

doi:10.1055/s-0031-1299388

Cited by 40 publications

(37 citation statements)

References 16 publications

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“…Clinical trials have demonstrated the efficacy of NIPT for the same chromosomal abnormalities that the rapid aneuploidy testing panel analyzes [27–29]. The main advantage of this new approach is the reduction in the need for invasive prenatal diagnostic practices (such as amniocentesis) to obtain biological material from fetus, thus minimizing the risk of iatrogenic miscarriages [30, 31]. Nevertheless, this is not yet a diagnostic tool but rather a screening test, and so positive NIPT results must still be confirmed using invasive techniques.…”

Section: Discussionmentioning

confidence: 99%

BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

García-Herrero¹,

Campos‐Galindo²,

Martínez-Conejero³

et al. 2014

BioMed Research International

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The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

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Section: Discussionmentioning

confidence: 99%

BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

García-Herrero¹,

Campos‐Galindo²,

Martínez-Conejero³

et al. 2014

BioMed Research International

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“…We studied the potential impact on the overall miscarriage risk and the cost implications. Assuming a risk of miscarriage associated with CVS of 1%, we calculated the number of miscarriages potentially avoided if NIPT replaced CVS [42,43,44]. …”

Section: Methodsmentioning

confidence: 99%

Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study

et al. 2015

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Objectives: The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT). Methods: This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype. Results: The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21.4%), including 1,009 with a likely clinically significant adverse outcome. Universal CVS with full karyotyping would lead to the diagnosis of all clinically significant abnormalities. A policy of relying solely on NIPT would have led to the diagnosis of 88.9% of clinically significant abnormalities. A strategy whereby NIPT is the main method, with CVS reserved for cases with NT ≥3.0 mm, would require CVS in 21.7% of cases, identify 94.8% of significant abnormalities and avoid miscarriage in 41 pregnancies compared to CVS for all. Conclusions: A policy of NIPT for increased-risk cases and CVS with full karyotype if the NT was ≥3.0 mm reduced the risk of miscarriage yet still identified 95% of clinically significant aneuploidy.

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“…Allerdings wurden dabei keine Gestationsalter-adäquaten Kontrollgruppen verglichen und der Studienaufbau war nicht randomisiert [39]. Eine weitere retrospektive Analyse gibt ein eingriffsbedingtes Abortrisiko von 0,4 % für AZ bei einer Nachbeobachtungszeit von 2 Wochen an [46]. In einer Stellungnahme des ACOG wird das Abortrisiko auf weniger als 1: 300 -500 Amniozentesen angegeben [47].…”

Section: Standardisierungunclassified

Empfehlungen der DEGUM zur Durchführung von Amniozentese und Chorionzottenbiopsie

et al. 2013

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Fetal Loss Rate and Associated Risk Factors After Amniocentesis, Chorionic Villus Sampling and Fetal Blood Sampling

Cited by 40 publications

References 16 publications

BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study

Empfehlungen der DEGUM zur Durchführung von Amniozentese und Chorionzottenbiopsie

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