Prenatal Diagnosis With Genetic Counseling in Uhc Split, Croatia.

Vulić, Robert; Čulić, Vida; Miskovic, Silvana; Gunjača, Ivana; Roje, Damir; Lasan, Ružica; Pavelić, Jasminka

doi:10.21474/ijar01/3632

Cited by 2 publications

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References 2 publications

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“…[4] The importance of genetic consultation is not only informing pregnant women about the options in a detailed and accurate way but also explaining the test results together with the restrictions accurately. [5,6] The aim of the study is to compare and interpret the approaches and sociocultural characteristics of pregnant women that we provide genetic consultation in cases who call into doubt of the presence of aneuploidy fetus such as Down syndrome primarily but have biochemically increased risk of Down syndrome in first and second trimester screenings or due to advanced maternal age only. We conducted the study retrospectively by collecting the data of pregnant women who were provided genetic consultation in 2009.…”

Section: Introductionmentioning

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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Section: Introductionmentioning

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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Prenatal Screening of Cytogenetic Anomalies -A Ten Year Retrospective Study on 1510 Cases

Mešanović

Perić

Vareškić

2023

EJMED

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Introduction: Prenatal diagnostic is a diagnostic method which is used to prove the presence of chromosome changes, a large number of metabolic disorders and other morphological fetus abnormalities. Prenatal genetic testing mostly refers to the molecular genetic and cytogenetic methods used during pregnancy to diagnose genetic fetal conditions. Aim: To investigate the existence and incidence of cytogenetics abnormalities in fetuses. Material and Methods: The retrospective research is based on cytogenetic analysis of the 1510 amniotic fluid samples collected from pregnant women sent to the cytogenetic laboratory from January, 2012 to December, 2022. Results: The karyotype without visible structural and numerical changes was detected in 96.8% (1462/1510) cases. The fetal karyotype was abnormal in 3.2 % (48/1510) of the cases. Trisomy 21 was the most frequent chromosome aberration detected in 1.12% (17/1510) cases followed by pericentric inversion 9 (10/1510; 0.66%) and trisomy 18 (4/1510; 0.26%). Mosaics were detected in five cases (5/1510; 0.33%). Comparing the prevalence of chromosome abnormalities according to maternal age, we come to know the prevalence of chromosome aberrations in the group of females above age 35 (26/790; 17.2/1000) is higher than in the group of females under age 25 (7/95; 4.63/1000), but not significantly different (P= 0.09). Conclusion: Conventional cytogenetics maintains its role as a powerful diagnostic tool in detecting chromosomal changes during prenatal screening.

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Prenatal Diagnosis With Genetic Counseling in Uhc Split, Croatia.

Cited by 2 publications

References 2 publications

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

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

Prenatal Screening of Cytogenetic Anomalies -A Ten Year Retrospective Study on 1510 Cases

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