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

Abstract

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.

Keywords

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

Down Sendromunda İzlem, Prenatal İzleminde Karşılaşılan Zorluklar

Abstract

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.

Keywords

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

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