ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis

Ghi, T.; Sotiriadis, Alexandros; Calda, Pavel; Costa, Fabrício da Silva; Raine‐Fenning, Nick; Alfirević, Z̄arko; McGillivray, George

doi:10.1002/uog.15945

Cited by 120 publications

(106 citation statements)

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“…There is considerable evidence suggesting that the procedure‐related risk of miscarriage following amniocentesis or chorionic villus sampling (CVS) is much lower than that quoted currently by professional bodies. The pooled summary statistics of this procedure‐related risk, based on data reported in large controlled cohort studies published until January 2014, were reported in a systematic review and meta‐analysis published in 2015.…”

Section: Introductionmentioning

confidence: 99%

Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta‐analysis

Salomon

Sotiriadis

Wulff

et al. 2019

Ultrasound in Obstet & Gyne

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247

168

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Objective To estimate the procedure‐related risk of miscarriage after amniocentesis and chorionic villus sampling (CVS) based on a systematic review of the literature and an updated meta‐analysis. Methods A search of MEDLINE, EMBASE and The Cochrane Library was carried out to identify studies reporting complications following CVS or amniocentesis. Eligible for inclusion were large controlled studies reporting data for pregnancy loss prior to 24 weeks' gestation. Study authors were contacted when required to identify additional necessary data. Data for cases that had an invasive procedure and controls were inputted into contingency tables and the risk of miscarriage was estimated for each study. Summary statistics based on a random‐effects model were calculated after taking into account the weighting for each study included in the systematic review. Procedure‐related risk of miscarriage was estimated as a weighted risk difference from the summary statistics for cases and controls. Subgroup analyses were performed according to the similarity in risk levels for chromosomal abnormality between the invasive‐testing and control groups. Heterogeneity was assessed using the I2 statistic. Egger's bias was estimated to assess reporting bias in published studies. Results The electronic search yielded 2943 potential citations, from which 12 controlled studies for amniocentesis and seven for CVS were selected for inclusion in the systematic review. A total of 580 miscarriages occurred following 63 723 amniocentesis procedures, resulting in a weighted risk of pregnancy loss of 0.91% (95% CI, 0.73–1.09%). In the control group, there were 1726 miscarriages in 330 469 pregnancies with a loss rate of 0.58% (95% CI, 0.47–0.70%). The weighted procedure‐related risk of miscarriage following amniocentesis was 0.30% (95% CI, 0.11–0.49%; I2 = 70.1%). A total of 163 miscarriages occurred following 13 011 CVS procedures, resulting in a risk of pregnancy loss of 1.39% (95% CI, 0.76–2.02%). In the control group, there were 1946 miscarriages in 232 680 pregnancies with a loss rate of 1.23% (95% CI, 0.86–1.59%). The weighted procedure‐related risk of miscarriage following CVS was 0.20% (95% CI, −0.13 to 0.52%; I2 = 52.7%). However, when studies including only women with similar risk profiles for chromosomal abnormality in the intervention and control groups were considered, the procedure‐related risk for amniocentesis was 0.12% (95% CI, −0.05 to 0.30%; I2 = 44.1%) and for CVS it was −0.11% (95% CI, −0.29 to 0.08%; I2 = 0%). Conclusions The procedure‐related risks of miscarriage following amniocentesis and CVS are lower than currently quoted to women. The risk appears to be negligible when these interventions were compared to control groups of the same risk profile. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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Section: Introductionmentioning

confidence: 99%

Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta‐analysis

Salomon

Sotiriadis

Wulff

et al. 2019

Ultrasound in Obstet & Gyne

Self Cite

247

168

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“…4 The availability of NIPT from 10 weeks onwards is making the CVS the most common procedure performed in most centres with a decrease in the number of amniocentesis as shown by several studies. 9,10,15 At present, the current guidelines for invasive procedures 3 whereas the third centre, with a higher number of procedures (more than 20 per month) uses a double-needle technique.…”

Section: Resultsmentioning

confidence: 88%

“…Invasive diagnostic testing can be performed from 10 +0 completed weeks by chorionic villus sampling (CVS) or after 15 +0 weeks of gestation by amniocentesis. [1][2][3] Several guidelines are available for both procedures focusing on several aspects, ie, fetal loss, risks of transmission of infections, and laboratory failure, but there are no strict indications on other aspects such as the route, ie, transabdominal (TA) vs transcervical (TC) approach in CVS, single or double-needle techniques or on the use of local anaesthetic (LA) prior to the procedure. 3,4 In 2008, Carlin et al published a survey that reviewed the practice among Royal College of Obstetricians and Gynaecologists (RCOG) subspecialists in maternal fetal medicine (MFM) across the United Kingdom.…”

Section: Introductionmentioning

confidence: 99%

A survey of current clinical practice of chorionic villus sampling

2019

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Objective The number of invasive procedures (chorionic villus sampling (CVS) or amniocentesis) for fetal testing is decreasing because of the availability of non‐invasive prenatal test (NIPT) leading to a centralisation of prenatal diagnostic services to accredited fetal medicine centres. A new survey was conducted 10 years after the previous one to update the current clinical practice among clinicians who regularly perform CVS. Method Consultants from 32 centres in the United Kingdom were invited to take part in an online survey evaluating: The total number of CVS procedures carried out in the unit in a typical week, the preferred route (transabdominal [TA] vs transcervical [TC]), technique (use of local anaesthetic [LA] and needle technique). Results Response rate was 96.9%; TA was the preferred route (96.8%) in all centres except one. Single‐needle technique is used exclusively in half the centres (51.6%). LA is used by most operators (90.3%) before the procedure. Three centres did not routinely use LA for CVS. Conclusions Operators across the United Kingdom almost exclusively use the TA route for CVS with single‐needle technique in 51.6% of cases. The use of LA prior to CVS is a very common practice in the United Kingdom.

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“…All measurements were made with Voluson 730 Expert (General Electric Company Milwaukee, Wisconsin). To assess fetal genotype, chorionic villus sampling (CVS) or amniocentesis (AC) was performed transabdominally and carried out according to the practice guidelines of the ISUOG . Fetal molecular genetic analysis was performed by aCGH using the Human Genome CGH 44 Oligo Microarray Kit (Agilent Technologies), by FISH using DiGeorge TBX1 (LSI TBX1 Region Probe [band 22q11.2]), DiGeorge/VCFS TUPLE1 (LSI TUPLE1 Region Probe [band 22q11.2]), or DiGeorge/VCFS N25 (LSI N25 Region Probe [band 22q11.2]) in combination with the probe LSI N85A3 (band 22q13.3 locus ProSAP2/SHANK3) (Cyto Cell) or by multiplex ligation‐dependent probe amplification (MLPA) using SALSA P250‐82 DIGEORGE/VCFS MLPA Kit (MRC Holland) according to the manufacturer's protocol.…”

Section: Methodsmentioning

confidence: 99%

DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI

2019

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Objective The aim of the study was to assess genotype‐phenotype correlation of prenatally diagnosed fetal DGS and dup22q11 syndrome by fetal molecular genetic analysis, fetal ultrasound, and/or MRI. Methods In this retrospective consecutive case series, pregnant women were screened for fetal anomalies during a period of 10 years. Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal phenotypic features: cardiac anomalies, hypo/aplastic thymus, craniofacial malformations, urinary abnormalities, or IUGR; genotype‐phenotype correlation was tested to potentially improve prenatal diagnosis of fetal DGS and dup22q11 syndrome. Results Fetal genotypes of deletions or duplications in proximal clusters of LCR22s (A‐B) were associated with fetal cardiac anomalies in combination with hypo/aplastic thymus and craniofacial malformations, suggesting a correlation with deleted HIRA. TOF associated with aplastic thymus in combination with renal defects indicated a relevant correlation with TBX1 deletion. Deletions in central LCR22s (B‐D) with the loss of CRKL supposed a trend of genotype‐phenotype correlation with fetal urinary abnormalities. Conclusion Genotype‐phenotype correlation might improve prenatal diagnosis of fetal DGS and dup22q11 syndrome. Hence, prenatal screening and counseling is highly enhanced by a combination of fetal molecular genetic analysis, fetal ultrasound, and/or MRI. The implications of these findings remain to be explored.

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ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis

Cited by 120 publications

References 103 publications

Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta‐analysis

Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta‐analysis

A survey of current clinical practice of chorionic villus sampling

DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI

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