National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark

Lou, Stina; Petersen, Olav Bjørn; Jørgensen, Finn Stener; Lund, Ida Charlotte Bay; Kjærgaard, Susanne; Vogel, Ida

doi:10.1111/aogs.13273

Cited by 50 publications

(54 citation statements)

References 22 publications

(24 reference statements)

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“…Couples who choose to continue the pregnancy may experience the decision‐making, diagnostic process, and interactions with clinicians quite differently . In Denmark, only 2‐9 couples annually choose to continue the pregnancy following a prenatal DS diagnosis . More knowledge on their experiences is needed to ensure that the decision to continue is supported and validated even if it is currently the less common choice.…”

Section: Discussionmentioning

confidence: 99%

“…Prenatal screening for Down syndrome (DS) is offered in many countries. In Denmark, the combined first trimester screening (FTS) program has a very high uptake (>90%) and when DS is diagnosed, termination rates are high (>95%) . To explore this trend towards termination of pregnancy (TOP) following a DS diagnosis, we conducted a qualitative study of pregnant couples' experience of the diagnostic process and the TOP decision.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision‐making process of pregnant couples

Lou

Carstensen

Petersen

et al. 2018

Acta Obstet Gynecol Scand

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision‐making process of pregnant couples

Lou

Carstensen

Petersen

et al. 2018

Acta Obstet Gynecol Scand

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“…Denmark has comprehensive and free of charge prenatal care available to all pregnant women including a combined first‐trimester screening and a second‐trimester malformation scan . In case of a high‐risk screening result, women are offered a choice between non‐invasive prenatal testing and invasive diagnostics, and the majority choose the latter .…”

Section: Methodsmentioning

confidence: 99%

"It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

Lou

Lomborg

Lewis

et al. 2020

Acta Obstet Gynecol Scand

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Introduction:A common concern regarding the introduction of chromosomal microarray in prenatal testing is the concomitant identification of an uncertain copy number variant (CNV) where significance and clinical implication for the unborn child can be difficult or impossible to predict. Following the identification of an uncertain CNV, prospective parents may decide to continue the pregnancy. The aim of this study was to explore how prospective parents manage uncertainty and experience pregnancy in light of an uncertain CNV result. Material and methods:Qualitative interviews with 16 women and 10 partners who had received a prenatally diagnosed, uncertain CNV. Participants were recruited from the Aarhus University Hospital, Denmark and most were interviewed in their homes 1-14 weeks after birth. Data were analyzed using thematic analysis.Results: Following the CNV diagnosis, some couples focused on the severe syndromes ruled out by the result, whereas others were more concerned with the new potential risks, for example, learning disabilities. Most couples did not remember the actual diagnosis, but all described a number of attention points generated by the CNV result. During pregnancy, the couples used various strategies to limit worry and enjoy their pregnancy, such as limiting information seeking, reducing talk of the CNV, and deferring thoughts of potential consequences. Furthermore, ultrasound was considered a valuable resource for reducing worry as it provided reassurance about the development of the baby. Inherited CNVs caused relief on one hand, but also feelings of responsibility for the child's potential challenges. After birth, worry decreased considerably, but all couples paid some extra attention to the child's development, while also being alert to the risk of wrongfully interpreting the child's development in terms of the CNV. Eleven couples expressed satisfaction with knowing about the child's CNV, whereas five couples would rather not have known. Conclusions:The results indicate that health professionals should be mindful of terminology, remember to point out what has been ruled out by the CNV result, and discuss potential coping strategies with the couple. Furthermore, these couples may have a higher need for ultrasound during pregnancy to help reduce worry. More research is needed on the families' long-term coping.

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“…Combined First Trimester Screening (cFTS) using maternal age, PAPP-A (pregnancy-associated plasma protein A), free β-hCG (free beta-chains of Human Chorionic Gonadotropin) and nuchal translucency (NT) thickness is an effective tool for the identification of pregnancies affected by trisomies 21, 13 and 18 [1][2][3]. Women with a positive screening result (a risk for trisomy 21 [T21] ≥1 in 300 or ≥1 in 150 for trisomy 13 [T13] or trisomy 18 [T18]) are offered an invasive test for diagnosis of these common forms of aneuploidy.…”

Section: Introductionmentioning

confidence: 99%

Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters

et al. 2018

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Aim: To examine the performance of the combined First Trimester Screening (cFTS) algorithm when outliers of 4 risk parameters (maternal age, nuchal translucency (NT) thickness, PAPP-A and β-hCG) were included in the classification of “high-risk”. Methods: A retrospective analysis of singleton pregnancies undergoing cFTS between 2008 and 2011 in Denmark. Abnormal karyotypes were classified as trisomy 21 (T21), trisomy 13 (T13) and trisomy 18 (T18), sex chromosome aberrations and atypical abnormal karyotypes. Results: cFTS was completed in 193,638 pregnancies. In 10,205 (5.3%) cases, cytogenetic or molecular analysis was performed pre- or postnatally. An abnormal karyotype was seen in 1,122 (11.0%). The algorithm identified 87% of T21, 80% of T13, 75% of T18, 79% of sex chromosome aberrations and 35% of atypical abnormal karyotypes. Additional classification of a single risk parameter outlier (low PAPP-A or free β-hCG (< 0.2 MoMs), high β-hCG (≥5.0 MoMs), maternal age ≥45 years or NT ≥3.5 mm) as being at high-risk would have improved detection rates to 88, 80, 81, 81 and 37% respectively. The screen positive rate increased from 4.4 to 4.8%. Discussion: Addition of outliers of the 4 parameters used in cFTS algorithm will lead to a statistically significant increase in detection rates for chromosomal abnormality.

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National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark

Abstract: Though prenatal screening technologies constantly improve, it was the introduction of and adherence to national guidelines that resulted in marked shifts in screening procedures and outcome in Denmark.

Cited by 50 publications

References 22 publications

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision‐making process of pregnant couples

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision‐making process of pregnant couples

"It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters

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