Kliniğimizde son beş yılda prenatal anöploidi taraması yapılan gebelerin postnatal bebeklerinde anomali görülme insidansının değerlendirilmesi
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Tarih
2022
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Tekirdağ Namık Kemal Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Çalışmamızda kliniğimize son beş yıl içinde başvuran prenatal anöploidi taraması yapılan gebelerin anomali görülme sıklığının ve bununla ilişkili maternal ve neonatal sonuçların araştırılması amaçlanmıştır 01.07.2017 ile 01.07.2022 tarihleri arasında hastanemize başvuran tamamı gebe olmak üzere toplam 542 olguyla çalışmamıza dahil edilmiştir. Çalışmaya katılan gebelerin prenatal fetal anöploidi tarama sonuçları, bu sonuçlara göre amniosentez yapılan gebeler ve maternal sonuçları ve bebeklerde kromozomal anöploidi saptanma oranları retrospektif olarak incelenmiştir. İkili tarama testine göre olguların %22,4'ünün (n=121); üçlü tarama testine göre ise olguların %11,8'inin (n=6) kromozomal anöploidi açısından yüksek riskli olduğu görülmüştür. İkili tarama testinde yüksek riskli görülen 2 bebekte kromozomal anöploidi, düşük risk görülen 1 bebekte kromozomal anöploidi izlenmiştir (p=0,534). Araştırmaya katılan 199 olguya amniosentez önerilmiş ve bu olguların %17,6'sı (n=35) kabul etmiş ve amniosentez yapılanlar arasında %1,8'inin (n=3) test sonucunda kromozomal anöploidi saptanmıştır. Anöploidi saptanan 2 gebelik ailelerin istemi ile termine edilmiştir. Tarama testleri sonucunda yüksek risk saptanan olguların tanı testlerini yaptırma oranlarının da incelendiği çalışmamızda tanı testi yaptırmak istemeyen olgulara yapılan tarama testlerinin gebelerde oluşturabileceği kaygıyı ve yapılan çalışmalarda prenatal tarama testi yaptıran gebelerdeki kaygı düzeylerinin daha yüksek olduğunu göz önünde bulundurduğumuzda; tarama testi konusunda toplumun yeterli bilgilendirilmesi oldukça önemlidir. Postnatal bebeklerin yoğun bakım ünitesinde yatış ihtiyacı durumuna göre PAPP-A ve ß-hCG ölçüm değerlerinin karşılaştırılmasında,bebeklerin yoğun bakım ihtiyacı ile katılımcıların PAPP-A değerleri arasında istatistiksel olarak anlamlı farklılık saptanmamıştır(p>0,05). Olguların ß-hCG ölçüm değerleri ile APGAR 1.dk skorları arasında negatif yönlü (BHCG arttıkça, APGAR azalan) istatistiksel olarak çok zayıf düzeyde anlamlı ilişki saptanmıştır (r=0,160; p=0,022; p<0,05). Olguların PAPP-A ölçüm değerleri ile APGAR 1.dk skorları arasında pozitif yönlü (PAPP-A arttıkça, APGAR artan) istatistiksel olarak çok zayıf düzeyde anlamlı ilişki saptanmıştır (r=0,160; p=0,030; p<0,05). İkili tarama testinde risk görülen olguların kiloları, risk görülmeyenlerden istatistiksel olarak anlamlı seviyede yüksek saptanmıştır (p=0,001; p<0,01). Sigara içen olguların ikili veya üçlü tarama testinde risk görülme oranı, sigara içmeyenlerden istatistiksel olarak anlamlı seviyede yüksek saptanmıştır (p=0,049; p<0,05). Sonuç olarak fetal anöploidi tarama testleri yüksek oranlarda yanlış pozitif sonuçlar verebilmekte bu durum da maternal kaygı düzeyini dolayısıyla gebelik sonuçlarını olumsuz etkileyebilmektedir. Prenatal tanı oranlarının maliyet etkin bir şekilde arttırılabilmesi için duyarlılığı arttıracak şekilde kombine testlerin yapılmasında yarar vardır ya da daha duyarlı testlere ihtiyaç vardır. Prenatal tanı testi gibi kesin sonuç vereceği şeklinde yanlış algılanan tarama testleri konusunda hastalara daha ayrıntılı danışmanlık yapılması ve toplumun daha çok bilgilendirilmesinin her hekimin en önemli sorumluluklarından olduğunu düşünüyoruz.
In our study, it was aimed to investigate the frequency of anomaly and related maternal and neonatal outcomes in pregnant women who applied to our clinic in the last five years and underwent prenatal aneuploidy screening. A total of 542 cases, all of whom were pregnant, who applied to our hospital between 01.07.2017 and 01.07.2022 were included in our study. The prenatal fetal aneuploidy screening results of the pregnant women who participated in the study, the pregnant and maternal outcomes of the pregnant women who underwent amniocentesis according to these results, and the detection rates of chromosomal aneuploidy in infants were retrospectively analyzed. According to the first tremester screening test, 22.4% of the cases (n=121); According to the second-tremester screening test, 11.8% (n=6) of the cases were found to be at high risk for chromosomal aneuploidy. In the first-tremester screening test, chromosomal aneuploidy was observed in 2 infants with high risk, and chromosomal aneuploidy was observed in 1 infant with low risk (p=0.534). ). Amniocentesis was recommended to 199 cases participating in the study, and 17.6% (n=35) of these cases accepted, and chromosomal aneuploidy was found in 1.8% (n=3) of those who underwent amniocentesis. 2 pregnancies with aneuploidy were terminated at the request of the families. Considering the anxiety that the screening tests may cause in pregnant women in our study, in which the rates of patients who were found to be at high risk as a result of screening tests to have the diagnostic tests performed, were also examined, and the anxiety levels of the pregnant women who had prenatal screening test were higher in the studies; It is very important to inform the society adequately about the screening test. In the comparison of PAPP-A and ß-hCG measurement values according to the need for hospitalization in the intensive care unit of postnatal babies, no statistically significant difference was found between the intensive care needs of the babies and the PAPP-A values of the participants (p>0.05). There was a statistically very weak correlation between the ß-hCG measurement values of the subjects and their APGAR 1st min scores (r=0.160; p=0.022; p<0.05). There was a very weak statistically significant correlation between the PAPP-A measurement values of the subjects and the APGAR 1st minute scores (as PAPP-A increased, APGAR increased) (r=0.160; p=0.030; p<0.05) In the first-tremester screening test, the weight of the subjects with risk was found to be statistically significantly higher than those without risk (p=0.001; p<0.01). The rate of risk In the first-tremester screening test or second-tremester screening of smokers was found to be statistically significantly higher than non-smokers (p=0.049; p<0.05). As a result, fetal aneuploidy screening tests may give false positive results at high rates, which may adversely affect the level of maternal anxiety and thus pregnancy outcomes. In order to increase the prenatal diagnosis rates cost-effectively, it is useful to perform combined tests to increase the sensitivity or more sensitive tests are needed. We think that it is one of the most important responsibilities of every physician to provide more detailed counseling to patients and to inform the society more about screening tests that are misconceived as giving definitive results, such as prenatal diagnostic tests.
In our study, it was aimed to investigate the frequency of anomaly and related maternal and neonatal outcomes in pregnant women who applied to our clinic in the last five years and underwent prenatal aneuploidy screening. A total of 542 cases, all of whom were pregnant, who applied to our hospital between 01.07.2017 and 01.07.2022 were included in our study. The prenatal fetal aneuploidy screening results of the pregnant women who participated in the study, the pregnant and maternal outcomes of the pregnant women who underwent amniocentesis according to these results, and the detection rates of chromosomal aneuploidy in infants were retrospectively analyzed. According to the first tremester screening test, 22.4% of the cases (n=121); According to the second-tremester screening test, 11.8% (n=6) of the cases were found to be at high risk for chromosomal aneuploidy. In the first-tremester screening test, chromosomal aneuploidy was observed in 2 infants with high risk, and chromosomal aneuploidy was observed in 1 infant with low risk (p=0.534). ). Amniocentesis was recommended to 199 cases participating in the study, and 17.6% (n=35) of these cases accepted, and chromosomal aneuploidy was found in 1.8% (n=3) of those who underwent amniocentesis. 2 pregnancies with aneuploidy were terminated at the request of the families. Considering the anxiety that the screening tests may cause in pregnant women in our study, in which the rates of patients who were found to be at high risk as a result of screening tests to have the diagnostic tests performed, were also examined, and the anxiety levels of the pregnant women who had prenatal screening test were higher in the studies; It is very important to inform the society adequately about the screening test. In the comparison of PAPP-A and ß-hCG measurement values according to the need for hospitalization in the intensive care unit of postnatal babies, no statistically significant difference was found between the intensive care needs of the babies and the PAPP-A values of the participants (p>0.05). There was a statistically very weak correlation between the ß-hCG measurement values of the subjects and their APGAR 1st min scores (r=0.160; p=0.022; p<0.05). There was a very weak statistically significant correlation between the PAPP-A measurement values of the subjects and the APGAR 1st minute scores (as PAPP-A increased, APGAR increased) (r=0.160; p=0.030; p<0.05) In the first-tremester screening test, the weight of the subjects with risk was found to be statistically significantly higher than those without risk (p=0.001; p<0.01). The rate of risk In the first-tremester screening test or second-tremester screening of smokers was found to be statistically significantly higher than non-smokers (p=0.049; p<0.05). As a result, fetal aneuploidy screening tests may give false positive results at high rates, which may adversely affect the level of maternal anxiety and thus pregnancy outcomes. In order to increase the prenatal diagnosis rates cost-effectively, it is useful to perform combined tests to increase the sensitivity or more sensitive tests are needed. We think that it is one of the most important responsibilities of every physician to provide more detailed counseling to patients and to inform the society more about screening tests that are misconceived as giving definitive results, such as prenatal diagnostic tests.
Açıklama
Anahtar Kelimeler
Amniosentez, Anöploidi,Birinci Trimester Tarama, İkinci Trimester Tarama, Prenetal Tarama, Amniocentesis, Aneuploidy, First Trimester Screening, Second Trimester Screening, Prenatal Screening, Kadın Hastalıkları ve Doğum, Obstetrics and Gynecology
