Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015

Johnson, K Taneille; Kelley, Joanne; Saxton, Virginia; Walker, Susan; Hui, Lisa

doi:10.1111/ajo.12590

Cited by 15 publications

(15 citation statements)

References 13 publications

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“…Worldwide, the number of invasive procedures is declining rapidly with the growing implementation of NIPT . As of July 1, 2017, Belgium became the first country in the world to fully reimburse NIPT for all pregnancies, resulting in an even steeper increase in NIPT uptake.…”

Section: Discussionmentioning

confidence: 99%

“…Of the de novo cases (3.9% or 29 cases), 65.5% had ultrasound anomalies versus 30.6% in cases with a parentally inherited VOUS (173 cases or 23.2% of the population). We acknowledge that knowledge on the inheritance mode of all VOUS would have strengthened the paper and will reconsider our policy for future cases.Worldwide, the number of invasive procedures is declining rapidly with the growing implementation of NIPT 31. As of July 1, 2017, Belgium became the first country in the world to fully reimburse NIPT for all pregnancies, resulting in an even steeper increase in NIPT uptake.…”

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confidence: 99%

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The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

et al. 2018

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Objective With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results In this three‐year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non‐invasive prenatal test as the first‐tier test. Conclusion The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype–phenotype correlation.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

et al. 2018

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“…On the other hand, some women with two or more live children (including one with a genetic disorder) and primigravidas were reluctant to undergo an invasive procedure [ 16 ]. Still little is known on the factors that influence maternal decision to accept or decline diagnostic amniocentesis, and most of available data in this matter are not evidence-based or reflect solely personal experiences [ 17 ]. Potential determinants of the decision to undergo/refuse invasive prenatal testing include the method of conception, age, parity, consanguinity, family history of congenital anomalies, history of miscarriage, twin gestation, socioeconomic background and religion.…”

Section: Discussionmentioning

confidence: 99%

Why do patients decline amniocentesis? Analysis of factors influencing the decision to refuse invasive prenatal testing

Sadłecki

Grabiec

Walentowicz

et al. 2018

BMC Pregnancy Childbirth

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BackgroundIn recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling. Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. The aim of this study was to identify factors that may influence the decision to refuse invasive prenatal testing aimed at determination of fetal karyotype in a group of patients at increased risk of trisomy 21.MethodsThe analysis included 177 patients with singleton pregnancy, whose personalized risk score for trisomy 21 calculated on the basis of the combined test exceeded 1:300. Diagnostic amniocentesis was performed in 125 patients from this subset, since the remaining 52 women declined invasive prenatal testing. The following factors were analyzed as potential determinants of the decision to refuse amniocentesis: maternal age (≥35 years), gravidity, number of miscarriages in previous pregnancies, educational status, marital status, indications to prenatal testing, gestational age at the time of prenatal testing, personalized risk score for fetal chromosomal aberrations and nuchal translucency (NT) value.ResultsA statistically significant relationship was found between the decision to refuse amniocentesis and the number of previous miscarriages, maternal educational level, NT values and personalized risk score for fetal chromosomal aberrations. Multivariate logistic regression analysis identified primary maternal education and history of more than two miscarriages as independent significant predictors of declining amniocentesis. Women with personalized risk scores for trisomy 21 greater than 1:100 opted out of invasive prenatal diagnosis significantly less often than the remaining participants.ConclusionIn conclusion, the key role of high quality and accuracy of non-invasive diagnostic tests conducted in the first trimester should be emphasized as personalized risk score for fetal chromosomal aberrations determined based on their results is pivotal for further management of pregnancy. Equally important is to provide the patients with an accurate and comprehensible information about potential benefits and risks of invasive testing.

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“…Due to progress in ultrasound imaging as well as implementation of sensitive noninvasive biochemical markers of chromosomal aberrations, new trends in the prenatal diagnosis can be observed [5][6][7][8][9]. Moreover, incorporation of cell-free DNA testing (non-invasive prenatal testing (NIPT)) to routine practice has led to decline in invasive procedures observed in western countries [10][11][12]. Meanwhile, the recent metaanalysis of Akolekar et al indicates a much smaller procedure-related risk of amniocentesis and chorionic villus sampling than previously reported [13], while advances in molecular genetic techniques enable a prenatal diagnosis of many syndromes that were previously beyond detection.…”

Section: Introductionmentioning

confidence: 99%

In-house genetic counseling increases the detection of abnormal karyotypes—a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland

Bijok

Kucińska‐Chahwan

Massalska

et al. 2020

J Assist Reprod Genet

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Purpose To evaluate the trends in prenatal diagnosis over 26 years in a tertiary referral hospital. Methods A retrospective analysis of invasive prenatal procedures performed between 1991 and 2016. Maternal characteristics, indications for invasive diagnosis, and percentage of abnormal karyotypes were compared between periods according to guidelines implemented nationally and locally. Results A total of 14,302 invasive prenatal procedures were performed. The proportion of invasive procedures performed for advanced maternal age, abnormal karyotype in a previous pregnancy, and maternal anxiety decreased from 71.1%, 17.8%, 8.9% in 1991 to 23.9%, 1.3%, and 2.3% in 2016 (OR 0.6, 0.8, and 0.9 for each 5 years, respectively; p < 0.001), while the proportion of invasive procedures performed for abnormal ultrasound increased from 2.2% in 1991 to 51.6% in 2016 (OR 1.9 for each 5 years; p < 0.001). Abnormal karyotype was found in 9.7%. The proportion of abnormal karyotypes increased significantly from 0.0% in 1991 to 15.7% in 2016 (OR 1.35 for each 5-year period; p < 0.001). The odds of abnormal karyotype increased after the implementation of the Ordinance of the Minister of Health in 2003 (OR 1.6), the National Prenatal Screening Program in 2007 (OR 2.2), and the in-house genetic counseling with combined first trimester screening in 2015 (OR 3.1). Conclusions Significant changes in prenatal diagnosis led to a better selection of patients undergoing invasive prenatal procedures. The implementation of in-house genetic counseling was associated with an increased rate of the detection of abnormal karyotypes.

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Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015

Cited by 15 publications

References 13 publications

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

Why do patients decline amniocentesis? Analysis of factors influencing the decision to refuse invasive prenatal testing

In-house genetic counseling increases the detection of abnormal karyotypes—a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland

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