The Management Of Down Syndrome, The Challenges In The Perinatal Period

Yıl 2018, Cilt: 15 Sayı: 2, 90 - 93, 01.04.2018

Sabriye Korkut Şule Özel Şebnem Şen Özyer Cüneyt Tayman Esra Şükran Çakar Yaprak Engin Üstün

Öz

Down syndrome DS , namely trisomy of chromosome 21, is the most common chromosomal anomaly in humans. Risk assessment of fetal chromosomal disorders is evaluated by screening tests and, if necessary, advanced examinations are performed to identify the fetuses with DS in the early prenatal period. Accompanying morbidities such as cardiac, gastrointestinal, hematologic diseases which may occur sometimes in DS and neurodevelopmental retardation in the postnatal period should be monitored in regular periods. With timely and appropriate support, they may maintain own lives without depending on their families, they may be educated at the same school for a period with their peers and may even have a profession. On the other hand, while the DS individuals are known to be in such a good situation in terms of neurodevelopment, processes related to the decision to evacuate fetuses with the diagnosis of DS in prenatal period constitutes legal and ethical problems for both family and physicians.

Anahtar Kelimeler

Down syndrome, prenatal screening, neurodevelopment, uterine evacuation, ethical

Down Sendromunda İzlem, Prenatal İzleminde Karşılaşılan Zorluklar

Öz

Yirmibirinci kromozomun trizomik olması nedeniyle oluşan Down sendromu DS , insanlarda oluşan en sık kromozom anomalisidir. Fetal kromozom hastalıkları açısından risk değerlendirilmesinin yapıldığı tarama testleri ve gerektiğinde ileri tetkikler ile erken prenatal dönemde DS olan fetuslar tanınabilmektedir. Postnatal dönemde nörogelişimsel gerilik ve hastaların bazılarında oluşabilen kardiyak, gastrointestinal, hematolojik hastalıklar gibi ilave morbiditeler açısından bu olgular düzenli olarak takip edilmelidir. Zamanında ve uygun destek ile yaşıtlarına göre gecikmeli de olsa yardıma ihtiyaç duymaksızın kendi yaşamlarını idame ettirebilecek duruma gelebilir, yaşıtlarıyla bir dönem aynı okullarda eğitim görebilir ve hatta meslek sahibi olabilirler. Öte yandan nörogelişimsel sonuçlarının böylesine olumlu olduğu bilinirken, prenatal dönemde DS tanısı alan fetusların tahliye kararı ile ilgili süreçler, hem aile hem de hekimler açısından hukuki ve etik sorunlara dönüşmektedir.

Anahtar Kelimeler

Down sendromu, prenatal tarama, nörogelişim, rahim tahliyesi, etik

Kaynakça

• Committee on Practice Bulletins—Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127:123-37.
• Kazemi M, Salehi M, Kheirollahi M. Down syndrome: current status, chal- lenges and future perspectives. Int J Mol Cell Med 2016;5:126-33
• Al-Biltagi M, Serag AR, Hefidah MM, Mabrouk MM. Evaluation of cardiac functions with Doppler echocardiography in children with Down syndro- me and anatomically normal heart. Cardiol Young 2013;23:174-80
• Zawitkowska J, Odoj T, Drabko K et al. Outcome of acute lymphob- lastic leukemia in children with down syndrome-Polish pediatric leuo- kemia and lymphoma study group report. Pediatr Hematol Oncol. 2017;34:199-205
• Wiseman FK, Al-Janabi T, Hardy J, et al. A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome. Nat Rev Neurosci 2015;16:564-74
• Haldeman-Englert CR, Saitta SC, Zackai EH. Specific chromosome disor- ders in newborns. Gleason CA and Devaskar SU (eds.). Avery’s diseases of the newborn . Philadelphia: Elsevier saunders, 2012:196-208
• Fernandes A, Mourato AP, Xavier MJ, Andrade D, Fernandes C, Palha M. Characterisation of the somatic evolution of Portuguese children with tri- somy 21-preliminary results. Downs Syndr Res Pract 2001;6:134-8
• Fong CT, Brodeur GM. Down’s syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Ge- net Cytogenet. 1987;28:55-76
• Butterfield PA, Perluigi M. Down syndrome: From development to adult life to Alzheimer disease. Free Radic Biol Med 2018;114:1-2
• Bobrow M, Barby T, Hajianpour A, Maxwell D, Yau SC. Fertility in a male with trisomy 21. J Med Genet 1992;29:141.
• Pueschel SM, Bernier JC, Pezzullo JC. Behavioural observations in child- ren with Down’s syndrome. J Ment Defic Res 1991;35:502-11
• Greydanus DE, Pratt HD. Syndromes and disorders associated with men- tal retardation. Indian J Pediatr 2005;72:859-64
• Li EP, Liu YM, Loc NC, Lee VW. Successful ewperience of people with Down syndrome. J Intellect Disabil 2006;10:143-54
• Gath A. Down’s syndrome. J R Soc Med 1994;87:276-7
• Naess KB, Nygaard E, Ostad J, Dolva AS, Lyster SH. The profile of social functioning in children with Down syndrome. Disabil Rehabil 2017;39:1320-31
• Turnpenny P, Ellard S. Prenatal Testing and reproductive genetics. Emery’s Elements of Medical Genetics (14th ed). Philadelphia: Elsevier Churchill Livingstone, 2012:325-38
• Hacettepe Üniversitesi Nüfus Etütleri Enstitüsü Türkiye Nüfus ve Sağlık Araştırması 2003. Ankara: Hacettepe Üniversitesi Hastaneleri Basımevi, 2004.
• Ball RH, Caughey AB, Malone FD, Nyberg DA, Comstock CH, Saade GR, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, Emig D, D’Alton ME; First and Second Trimester Evaluation of Risk (FASTER) Research Consortium. First- and second-trimester evalu- ation of risk for Down syndrome. Obstet Gynecol 2007;110:10-7.
• Reynolds T. The triple test as a screening technique for Down syndrome: reliability and relevance. Int J Womens Health 2010;2:83-8.
• Chitayat D, Langlois S, Wilson RD; Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada; Prenatal Diagnosis Com- mittee of the Canadian College of Medical Geneticists. Prenatal scree- ning for fetal aneuploidy in singleton pregnancies. J Obstet Gynaecol Can 2011;33:736-50.
• Cuckle H. Integrating antenatal Down syndrome screening, Curr Opin Obstet Gynecol 2001;13:175-81 .
• Özel Ş, Engin-Üstün Y, Avşar F. Türkiye’de gebelik terminasyonunun yasal durumu. Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi 2017;14:34-38.