Population‐based trends in invasive prenatal diagnosis for ultrasound‐based indications: two decades of change from 1994 to 2016

Lostchuck, Emily; Poulton, Alice; Halliday, Jane; Hui, Lisa

doi:10.1002/uog.19107

Cited by 12 publications

(9 citation statements)

References 22 publications

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“…Thus, the application of CNVs detection can expand the detection area of syndromes in prenatal diagnosis, and the symptoms of underlying syndromes may not only restrict in ultrasound findings. Moreover, our data is in agreement with previous reports based on chromosomal microarray analyses, which demonstrated that fetuses with abnormal ultrasound findings included 2.8-3.5% pathogenic CNVs that were not detectable by karyotyping (Wapner et al, 2012;Society for Maternal-Fetal Medicine et al, 2016;Lostchuck et al, 2019). Therefore, although aneuploidy in EIF fetuses has been extensively studied, subchromosomal abnormalities still need to be evaluated.…”

Section: Discussionsupporting

confidence: 92%

Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy

Song

et al. 2021

Front. Genet.

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Echogenic intracardiac focus (EIF) is one of the most common ultrasound soft markers (USMs) in prenatal screening. However, the association of EIF with chromosomal abnormalities is still controversial. From January 2018 to April 2020, a total of 571 fetuses with USMs in our center were enrolled, among which 150 (26.27%) presented EIFs. We analyzed the karyotype anomalies and copy number variations (CNVs) in fetuses who presented EIFs by comparing their ultrasound indications, maternal ages and gestational stages. There were no statistically significant differences in the incidence of chromosomal abnormalities between fetuses with EIFs and the fetuses with USMs (4.00 vs. 7.71%, p = 0.112). Additionally, the incidence of chromosomal abnormalities was not related to maternal age (4.10% in maternal age below 35 yeas vs. 3.57% in maternal age above 35, p = 1.000). Interestingly, after 28 weeks of gestation, fetuses with EIFs showed more chromosomal abnormalities (20.00%) than that in the group before 28 weeks of gestation (2.22%, p = 0.014), and this result was attributed to the detection of pathogenic CNVs. After birth, 25 of children conducted cardiac development re-examination. Among them, 9 (36%, 9/25) were diagnosed with congenital heart disease, primarily patent foramen oval and ventricular septal defects (7/9, 77.77%). We concluded that the appearance of EIFs in early or mid-trimester would not indicate an increased risk of fetal chromosomal abnormalities. However, the persistence of EIFs in late trimester was associated with a higher risk of pathology-related CNVs and its persistent appearance may indicate heart development defects after birth. Thus, our results suggest that CNV detection has its advantages in prenatal diagnosis, especially for those with EIFs that persist in the third trimester.

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Section: Discussionsupporting

confidence: 92%

Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy

Song

et al. 2021

Front. Genet.

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“…20 As a result, a considerable decrease in the number of diagnostic (invasive) testing has been reported. 31,85,86 In recent years, cell-free DNA technology has improved to include the option of genome-wide analysis of copy number variants larger than 7Mb. 87 Such testing has the capability of detecting rare chromosome aneuploidy and copy number variants with resolution similar to a traditional karyotype, which detects CMV between 5 and 10 Mb.…”

Section: Role Of Cfdna Screening In the Assessment Of First-trimester...mentioning

confidence: 99%

“… 20 As a result, a considerable decrease in the number of diagnostic (invasive) testing has been reported. 31 , 85 , 86 …”

Section: First-trimester Septated Cystic Hygromamentioning

confidence: 99%

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma

Sherer¹,

Hsieh²,

Hall³

et al. 2022

IJWH

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First-trimester septated cystic hygroma occurs in approximately 1 in 268 pregnancies and has long been associated with a markedly increased risk of fetal aneuploidy and, among euploid fetuses, an increased risk of structural anomalies primarily affecting the cardiac and skeletal systems. Invasive prenatal diagnosis -chorionic villus sampling and/or amniocentesis -encompasses the timehonored clinical tools for the next step in management following prenatal sonographic diagnosis of first-trimester septated cystic hygroma. Currently, prenatal cell-free DNA (cfDNA) screening for fetal aneuploidy with select microdeletions is gradually replacing the considerably less sensitive, and labor-intensive combined first-trimester screening. These new technologies have opened potential new venues in the clinical management of this ominous late first-trimester sonographic diagnosis. Advances in cfDNA technologies are now permitting detection of chromosomal copy number variants (CNV) larger than 7Mb across genome and select serious single-gene disorders (mainly impacting skeletal and neurological development), affecting quality of life and may benefit from medical and/or surgical management. This commentary will address the available non-invasive prenatal screening technologies, which clearly enhance immediate genetic analysis modalities applicable in the presence of the complex sonographic finding of first-trimester septated cystic hygroma.

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“…It is well known that there has been a sharp decline in prenatal genetic diagnostic procedures over the past few decades and that pregnant women-even those at high risk for a fetal condition based on screening or ultrasound-frequently decline diagnostic testing. 1,2 The introduction of relatively accurate, accessible, and widely implemented screening tests have been cited for the decrease in testing. [2][3][4] Prior to 2007, recommendations to offer diagnostic testing were limited to women at high risk of carrying a fetus with a chromosomal abnormality (maternal age >35 years old, abnormal screening test, or anomaly on ultrasound).…”

Section: Introductionmentioning

confidence: 99%

“…1,2 The introduction of relatively accurate, accessible, and widely implemented screening tests have been cited for the decrease in testing. [2][3][4] Prior to 2007, recommendations to offer diagnostic testing were limited to women at high risk of carrying a fetus with a chromosomal abnormality (maternal age >35 years old, abnormal screening test, or anomaly on ultrasound). 5,6 Subsequently, studies showed that low risk women would like the option of diagnostic testing.…”

Section: Introductionmentioning

confidence: 99%

Patient attitudes toward prenatal diagnostic testing during antenatal care in an urban population

et al. 2021

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Objective: Investigate factors that influence the decision to accept or decline diagnostic testing for pregnant women referred for genetic counseling.Methods: Cross sectional anonymous survey of pregnant women undergoing genetic counseling at a tertiary care referral center. Subjects' perceived risk of procedure related loss and fetal chromosomal problem were obtained via survey where patients rated risk from 0 (no risk) to 10 (highest risk).Results: There were no differences in sociodemographic factors between women undergoing a diagnostic procedure compared to those not undergoing a procedure.As the perceived risk for having a baby with genetic problem increased by one point, the estimated odds of having the diagnostic procedure increased by 43% controlling for the perceived risk of procedure related loss (p < .0001). Similarly, as the perceived risk of miscarriage increased by one point, the odds of having the diagnostic procedure decreased by 40%, controlling for the perceived risk of having a baby with a genetic problem (p < .0001). The main reason women cited for not undergoing a procedure was fear of procedure related loss.Conclusions: Pregnant women that decline diagnostic testing have a higher perceived risk of procedure related loss and lower perceived risk of fetal chromosomal abnormality than those who accept. Key Points What is already known about this topic?� There has been an exponential increase in prenatal genetic testing options available (in both screening and diagnostic testing) with a simultaneous decrease in diagnostic testing. Our objective was to investigate the factors that influence the decision to accept or decline diagnostic testing What does this study add?� Pregnant women that decline diagnostic testing have a higher perceived risk of procedure related loss and lower perceived risk of fetal chromosomal abnormality than those who accept diagnostic testing and there are no differences in sociodemographic factors 888 -

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Population‐based trends in invasive prenatal diagnosis for ultrasound‐based indications: two decades of change from 1994 to 2016

Cited by 12 publications

References 22 publications

Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy

Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma

Patient attitudes toward prenatal diagnostic testing during antenatal care in an urban population

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