The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey

Ilgin-Ruhi, Hatice; Yurur-Kutlay, Nüket; Tükün, Ajlan; Bökesoy, Işık

doi:10.1016/j.ejmg.2005.01.018

Cited by 8 publications

(4 citation statements)

References 16 publications

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“…[12][13][14] Data are mixed regarding IT uptake in older mothers and couples who required assisted reproduction. [12][13][14][15][16][17][18][19] This variety may reflect different study methodologies or populations. The studies cited were conducted in Turkey, Lebanon, Canada, the United Kingdom, the United States, and Greece, representing a broad range of health care systems and cultural milieus.…”

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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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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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“…Our study, based on the results of the largest CVS and AC series in Turkey, shows how STs and US strongly influenced the clinical and cytogenetic results in IPD (37)(38)(39). We believe that abnormality rates detected in different indication groups in this study could be considered as the baseline risks in genetic counseling for certain indications in NIPD.…”

Section: Cytogenetic Resultsmentioning

confidence: 61%

Changes in Clinical and Cytogenetic Findings of Invasive Prenatal Diagnosis From 1989 to 2011 in Istanbul; Impact of the Biochemical Screening Tests and Fetal Ultrasonography

Başaran¹,

Karaman²,

Kirgiz³

et al. 2020

J Istanb Fac Med

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İnvazif prenatal tanıda (IPT) maternal serum tarama testlerinin (MS-TT) ve fetal ultrasonografinin (USG) klinik ve sitogenetik bulgular üzerine olan etkisini belirlemek. Gereç ve Yöntem: 23 yıllık süreçte invazif girişimle elde edilen 23469 amniyosentez (AS) ve 2492 koryon villus aspirasyonu uygulama (KVA) sonuçları, 2000 yılı öncesi ve sonrası iki döneme ayrılarak karşılaştırıldı. Bulgular: İleri anne yaşı (İAY) ile başvuran olgu sayısı azalırken, MS-TT ve fetal USG endikasyonu ile başvuran olguların sayısında artma gözlendi. Kromozom anomali oranı KVA'da %10,1'den %17,6'ya ve AS'de %3,2'den %4,3'e yükseldi. Yaygın anöploidiler, KVA'da anomalilerin %69,6'sını (n=385) ve AS'de anomalilerin %65,1'ini (n=892) oluşturdu. Bilinen kromozom anomali taşıyıcıları hariç tutulduğunda, kromozomal yeniden düzenlemelerin oranı KVA'da %1,4 ve AS'de %1 idi. KVA'nun %1,7'sinde KVA ve AS arasında uyumsuz sitogenetik sonuçlar gözlendi. KVA'da gerçek/olası gerçek mozaiklik, yalancı pozitif plasentayla sınırlı mozaisizm (PSM) ve yalancı negatif PSM oranı sırasıyla %1,02, %0,57 ve %0,49 bulundu.

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“…Genetic consultation in prenatal diagnosis has gradually become significant as new technologies have been implemented and genetic analyses have become more inclusive. There are similar reports about this topic, even a small number of them; [20] however, up-to-date reviews, [21] and even good clinical practice guidelines are needed.…”

Section: Discussionmentioning

confidence: 99%

The factors affecting amniocentesis decision by pregnant women in the risk group and the influence of consultant

Yararbaş¹,

Kuşkucu²

2019

Perinatal J

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Risk grubundaki gebelerin amniyosentez karar› almas›ndaki faktörler ve genetik dan›flman›n etkisi Amaç: Do¤um öncesi tan›da günümüzde en s›k amaçlanan hedef Down sendromlu gebelikleri tespit etmektir. Tan›da alt›n standart yöntem olan karyotiplemenin yerini henüz non-invaziv bir yöntem dolduramad›¤›ndan, CVS, amniyosentez gibi bir yöntem için risk alt›ndaki gebelerin seçimi gereklidir. Bu amaçla giriflimsel olmayan yöntemlerle tarama testleri yap›lmakta, riskli gebelere genetik dan›flma verilerek invaziv giriflim karar› aileye b›rak›lmakta-d›r. Yöntem: Perinataloji ve T›bbi Genetik klinik hizmetine sahip bir referans merkezde genetik dan›flma verilen, kromozom analizi aday›; ancak sadece ileri anne yafl› ya da biyokimyasal taramada art-m›fl riski olan, 1000 adet ikinci üç ay gebesi çal›flmaya dahil edildi. Onay veren gebelerin genetik dan›flma ald›klar› s›rada not al›nan efllik eden birey iste¤i, invaziv giriflim karar›, bu karar› almas›nda etkili olan faktörler s›raland›. Bulgular: Gebelerin genetik dan›flma almaya geldiklerinde bir stres ortam›na giriyor hissine sahip olmalar› nedeniyle, efllik eden biriyle genetik dan›flma almay› tercih ettikleri görüldü. Gebelerin yar›s›ndan fazlas› (%52.1) genetik dan›flma ald›ktan sonra karar›-n› paylaflt›. Gebelerin neredeyse üçte ikisi (%63) amniyosentez yapt›rma karar› ald›¤›n› bildirdi. Bu karar› etkileyen faktörlerin da¤›l›m› da genel olarak gebeli¤in aile aç›s›ndan k›ymeti ve invaziv giriflimin olas› riskleri fleklinde s›ralanabilir. Sonuç: Genetik dan›flma t›bbi geneti¤in en önemli hasta hekim iliflkisi araçlar›ndan biridir. Özellikle gebelerde invaziv giriflim ka-rar› almada ve invaziv test sonuçlar›yla birlikte gebeli¤in ilerlemesi konusunda karar vermede, bilgilendirici özelli¤i sayesinde çok etkili olmaktad›r. Bu çal›flmada ülkemizin co¤rafi özelliklere göre demografik da¤›l›m›n› bilmenin, ‹stanbul gibi büyük flehirlerde ise kozmopolit yap› nedeniyle, özellikle sosyokültürel aç›dan çeflitlilik arz eden bir nüfusun hizmet ald›¤›n›n fark›nda olman›n, genetik dan›flmadaki önemini vurgulamaya çal›flt›k.

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The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey

Cited by 8 publications

References 16 publications

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

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

Changes in Clinical and Cytogenetic Findings of Invasive Prenatal Diagnosis From 1989 to 2011 in Istanbul; Impact of the Biochemical Screening Tests and Fetal Ultrasonography

The factors affecting amniocentesis decision by pregnant women in the risk group and the influence of consultant

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