The impact of first-trimester screening on AMA patients' uptake of invasive testing

Wray, Andrea; Ghidini, Alessandro; Alvis, Collette; Hodor, Jonathan; Landy, Helain J.; Poggi, Sarah

doi:10.1002/pd.1144

Cited by 35 publications

(19 citation statements)

References 11 publications

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“…As screening tests have improved, other groups have also reported lower rates of invasive testing in this age group. [3][4][5][6][7] Although such studies are consistent with ours in terms of their findings, most are from referral sites and document either genetic counseling referrals 4 or laboratory specimen volumes, 5,6 so it is possible that such reported results were influenced by changing referral patterns. Because Kaiser Permanente Northern California is a closed system with a very stable patient base, the direct relationship among screening uptake, rates of invasive testing, and detection of chromosomal abnormalities in the population can be determined.…”

Section: Discussionsupporting

confidence: 44%

Effects of Changes in Prenatal Aneuploidy Screening Policies in an Integrated Health Care System

Norton

Nakagawa²,

Norem³

et al. 2013

Obstetrics &Amp; Gynecology

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Section: Discussionsupporting

confidence: 44%

Effects of Changes in Prenatal Aneuploidy Screening Policies in an Integrated Health Care System

Norton

Nakagawa²,

Norem³

et al. 2013

Obstetrics &Amp; Gynecology

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“…13,20 This trend may reflect many different factors, including increasingly effective use of the prenatal screening or changing perceptions of IT. Given the growing popularity and availability of this screening option, it is important to further study its role in IT uptake.…”

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confidence: 99%

Beyond the first trimester screen: Can we predict who will choose invasive testing?

Landingham

Bienstock

Denne

et al. 2011

Genetics in Medicine

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Purpose: The purpose of this study is to determine what factors, in addition to a positive first trimester aneuploidy screen, correlate with a pregnant patient's decision to undergo invasive prenatal testing. Methods: We conducted a retrospective cohort study of singleton pregnancies referred to the Johns Hopkins Prenatal Diagnosis and Treatment Center between 2001 and 2009 with an indication of positive first trimester screen. We compared demographic factors and numerical first trimester screen results with invasive testing uptake. Risk difference calculations and linear modeling were used for analysis. Results: A total of 171 eligible patients were identified. Maternal age, race, residual risk, marital status, and year of first trimester screen correlated significantly with invasive testing uptake. Family history was predictive of invasive testing uptake for patients younger than 35 years only. Type of elevated risk (trisomy 21 vs. 18 and 13), assisted reproductive technology status, parity, and increase from age-related risk were not predictive. A general linear model for relative risk with Gaussian error showed significant interaction between the variables of age and family history, so the two traits were analyzed separately (P ϭ 0.009). Conclusions: Among patients with positive first trimester screen results, several demographic traits are predictive of invasive testing uptake. This information can help providers to identify patients at increased risk of declining invasive testing and can help providers anticipate educational needs. Further investigation should be conducted to elucidate the causes of these differences, which may relate to misinformation about the testing options and differences in values systems. Genet Med 2011:13(6):539 -544.Key Words: prenatal diagnosis, first trimester screen, aneuploidy, invasive testing, genetic counseling P roviding pregnant patients with an accurate, low-risk assessment of fetal chromosome abnormalities has long been a goal in prenatal diagnostics. Chorionic villus sampling (CVS), performed at 11-13 weeks, and amniocentesis, performed at 16 -22 weeks, use karyotyping to detect fetal aneuploidy with a sensitivity of Ͼ99%. 1 These invasive tests are considered diagnostic. The risk of miscarriage after each test is Ͻ1% but can be a source of anxiety for patients. 2 Several noninvasive screening tests are available to assess patients' probability of fetal aneuploidy before exposing them to the risks of diagnostic testing. The second trimester maternal serum screen, developed in the late 1980s, is useful for patients considering amniocentesis and has dramatically reduced the uptake of invasive testing (IT) over time. 3 The more recent introduction of the first trimester screen (FTS) in the early 2000s assesses patients' risk during the 11th-13th week of pregnancy and is, therefore, useful for patients considering CVS or amniocentesis. It provides a probability that a fetus has one of the three most common trisomies, 21, 18, or 13, with a sensitivity of Ͼ95%. 4 The purpose...

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“…Distribution of all 102 diagnosed aneuploidies (trisomy13,18,21) according to the group of indication and invasive technique. Group 1: Advanced maternal age.…”

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confidence: 99%

The Impact of First Trimester Screening and Early Fetal Anomaly Scan on Invasive Testing Rates in Women with Advanced Maternal Age

Hagen¹,

Entezami²,

Gasiorek-Wiens³

et al. 2010

Ultraschall in Med

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The impact of first-trimester screening on AMA patients' uptake of invasive testing

Abstract: Availability of FTS results in more AMA women having early prenatal genetic counseling and choosing some form of genetic testing. Such women are less likely to choose invasive tests than those without access to FTS.

Cited by 35 publications

References 11 publications

Effects of Changes in Prenatal Aneuploidy Screening Policies in an Integrated Health Care System

Effects of Changes in Prenatal Aneuploidy Screening Policies in an Integrated Health Care System

Beyond the first trimester screen: Can we predict who will choose invasive testing?

The Impact of First Trimester Screening and Early Fetal Anomaly Scan on Invasive Testing Rates in Women with Advanced Maternal Age

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