Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis

Akolekar, Ranjit; Beta, J.; Picciarelli, Gemma; Ogilvie, Caroline Mackie; D’Antonio, Francesco

doi:10.1002/uog.14636

Cited by 590 publications

(433 citation statements)

References 59 publications

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“…Pregnancy loss rates before 24 weeks of gestation for amniocentesis range from 0.1 to 0.9% (1/1,000-1/111) and for chorionic villous sampling range from 0.2 to 1.3% (1/500-1/77). 35,36 Results from these studies reflect diagnostic testing performed because of abnormal ultrasound findings, positive aneuploidy screening, or other at-risk conditions. Therefore, one can conclude that these procedure-related miscarriages are overestimates of risk compared to selecting a procedure solely for obtaining maximal information.…”

Section: Implementation Of Nips Into Practice: Genetic Testing As a Mmentioning

confidence: 99%

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

600

560

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guidelines and statements have assisted patients seeking prenatal screening information and health-care providers responsible for providing accurate and up-to-date information to their patients. [1][2][3] Until recently, noninvasive prenatal screening for aneuploidy relied on measurements of maternal serum analytes and/or ultrasonography. These have a false-positive rate of approximately 5% and detection rates of 50-95%, depending on the specific screening strategy used. Advances in genomic technologies led to noninvasive prenatal screening that relies on the presence of cell-free DNA derived from the placenta but circulating in maternal blood, which is referred to here as noninvasive prenatal screening (NIPS). Massive parallel sequencing of maternal and placental (also called fetal when speaking of the fraction of this DNA in maternal blood) fragments of DNA occurs simultaneously. Sequencing with quantification can be random, targeted, and followed by quantification or exploitation of single-nucleotide polymorphisms. [4][5][6][7][8] Alternatively, sequencing can take place by measuring the release of hydrogen ions as nucleotides are added to a DNA template (i.e., semiconductor sequencing). 9 Microarray technology can also be used to quantify DNA. 10 Bioinformatics that enable these methodologies is complex and proprietary. Since the introduction of NIPS in 2011, health-care providers and patients have experienced marketing pressures, rapidly evolving professional practice guidelines, and confusion regarding the appropriate role of Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9-10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical utility studies. Pretest counseling for NIPS remains crucial; however, it needs to go beyond discussions of Patau, Edwards, and Down syndromes. The use of NIPS to include sex chromosome aneuploidy screening and screening for selected copy-number variants (CNVs) is becoming commonplace because there are no other screening options to identify these conditions. Providers should have a more thorough understanding of patient preferences and be able to educate about the current drawbacks of NIPS across the prenatal screening spectrum. Laboratories are encouraged to meet the needs of providers and their patients by delivering meaningful screening reports and to engage in education. With health-care-provider guidance, the patient should be able to make an educated decision about the current use of NIPS and the ramifications of a positive, negative, or no-call result. Genet Med advance online publication 28 July 2016Key Words: cell-f...

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Section: Implementation Of Nips Into Practice: Genetic Testing As a Mmentioning

confidence: 99%

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

600

560

View full text Add to dashboard Cite

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“…Also, it is unknown if a positive result is predictive of a subsequent fetal abnormality, and if so, what proportion of infants born after infection will have abnormalities. Amniocentesis is associated with an overall 0.1% risk of pregnancy loss when performed at less than 24 weeks of gestation (19). Amniocentesis performed ≥15 weeks of gestation is associated with lower rates of complications than those performed at earlier gestational ages, and early amniocentesis (≤14 weeks of gestation) is not recommended (20).…”

Section: Recommendations For Pregnant Women With History Of Travel Tomentioning

confidence: 99%

Interim Guidelines for Pregnant Women During a Zika Virus Outbreak — United States, 2016

Petersen¹,

Staples²,

Meaney‐Delman³

et al. 2016

MMWR Morb. Mortal. Wkly. Rep.

250

120

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“…Upon detailed investigation in a meta-analysis and another large scale study, the miscarriage risk after CVS or AC before 24 weeks of gestation is not significantly different from patients not receiving these invasive procedures [53,54]. The estimated abortions induced by these procedures range from 0.1% to 0.2%.…”

Section: Invasive Prenatal Diagnostics In a Nipt Contextmentioning

confidence: 96%

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

Harasim¹,

Rost

Klein³

2016

LaboratoriumsMedizin

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Abstract:The introduction of non-invasive prenatal testing (NIPT) into prenatal care represents a paradigm shift. With the absence of any intervention risk in contrast to invasive diagnostic procedures, NIPT has been widely adopted for the detection of fetal trisomy 13, 18 and 21. Additionally, fetal sex chromosome aneuploidy testing and sex determination are available, but can be compromised by both, medical and legal factors. Available validation studies were predominantly based on patients with a high a priori aneuploidy risk, determined by trimester screening or invasive diagnostics. In this review, we discuss the interpretation of NIPT results in context of patient specific risk constellations, the available performance data and dominant methodical approaches of NIPT including necessary content of genetic counseling.

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Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis

Abstract: Objectives To estimate procedure-related risks of miscarriage following amniocentesis and chorionic villus sampling (CVS) based on a systematic review of the literature and a meta-analysis.Methods A search of MEDLINE, EMBASE, CINHAL and The Cochrane Library (2000-2014)

Cited by 590 publications

References 59 publications

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Interim Guidelines for Pregnant Women During a Zika Virus Outbreak — United States, 2016

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

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