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Down sendromunda (trizomi 21) artmış nukkal kalınlık ve nazal kemik bulunmayan bir olgu

Down sendromu, yenidoğanlarda en sık görülen trizomi olup bilinen genetik sebepli mental retardasyonun en sık sebebidir. Nukkal kalınlık ölçümü günümüzde down sendromu görüntüleme yöntemi olarak kullanılmaktadır. Sonografik calışmalar, euploid fetuslara oranla down sendromlu fetuslarda nazal kemik anomalilerinin daha sık rastlandığını göstermektedir. 23 yaşında kadın, gravida 1, para 0, rutin antenatal takip için polikliniğimize başvurdu. Son menstrual periyoduna göre 12+5 haftalık gebeliği mevcuttu. Ultrasonografik değerlendirmede, nukkal kalınlık 4,27 mm ölçüldü ve nazal kemik varlığı tespit edilemedi. Onbeşinci gebelik haftasında erken amniosentez yapıldı ve amniosentez sonucunda down sendromu tanısı konuldu. Nazal kemik varlığının tespit edilememesi ve artmış nukkal kalınlık klinisyen için Down Sendromu açısından uyarıcı olmalıdır ve prenatal tanı amacıyla hastaya durum anlatılarak fetal karyotip analizi için koryon villus biopsisi veya amniyosentez önerilmelidir.

Excess nuchal translucency and absence of nasal bone in down syndrome: A case report

Down syndrome (DS) is the most common trisomy in liveborn children and the major known genetic cause of mental retardation. Nuchal translucency measurement and nasal bone abnormalities are significantly more common in DS fetuses than in euploid fetuses. 23 yearold female (gravida 1, para 0), gestational age was calculated from the last menstrual period as 12+5 weeks. In ultrasonographic examination nuchal translucency was measured 4,27 mm, and absence of nasal bone detected. Amniocentesis was performed at 15th week. The fetus was diagnosed as DS. The absence of the nasal bone, and excess nuchal translucency, should serve as a warning for the clinician to suspect DS, and corion villus sampling (CVS) or amniocentesis for karyotype should be recommended as an option for the patient if prenatal diagnosis is desired.

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