Trends in invasive prenatal diagnostic testing at a single institution

Awomolo, Adeola; Palomares, Kristy; Garcia, Guadalupe Herrera; Rosen, Todd; Duzyj, Christina M.; Ashkinadze, Elena

doi:10.1002/pd.5290

Cited by 2 publications

(2 citation statements)

References 20 publications

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“…Unlike other authors [8][9][10][11][17][18][19], we did not observe a decline in invasive procedures neither after the introduction of NPSP with cFTS in 2007 or after the implementation of NIPT in 2013 [14], which suggests that the trends in our country do not reflect global changes in prenatal diagnosis. On the contrary, we observed a steady or even a slightly increased case load after 2007, which may be attributed to the increasing awareness of patients and doctors of the importance of prenatal diagnosis.…”

Section: Discussioncontrasting

confidence: 99%

“…Meng et al (9.6%) [9] reported a similar rate of genomic abnormalities in their study, but they used both routine karyotyping as well as aCGH for genetic testing. Similarly, Awomolo et al in a recent study showed a high percentage of abnormal results, reaching 27% [19]. Nevertheless, the mode of testing was not stated in the paper and most likely comprised molecular genetics along with cytogenetics.…”

Section: Discussionmentioning

confidence: 85%

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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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