TRISOMY 18 PRESENTING WITH MEGACYSTIS AND INCREASED NUCHAL TRANSLUCENCY: A CASE REPORT

被引：0

作者：

Sakin, Onder ^{[1
]}

Kars, Blent ^{[2
]}

Demir, Cenk ^{[2
]}

Turhan, Omer Talip ^{[1
]}

Vatansever, Dogan ^{[1
]}

机构：

[1] Istanbul Dr Lutfi Kirdar Kartal Egiti & Arastirm, Kadin Hastaliklari & Dogum Klin, Istanbul, Turkey

[2] Ozel Dragos G len Tip Merkezi, Istanbul, Turkey

来源：

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI | 2015年 / 78卷 / 04期

关键词：

megacystis; trisomy; 18; nuchal translucency measurement;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Object: The purpose of this case report is to present a case of trisomy 18 diagnosed prenatally in early gestation due to ultrasonographic findings of megacystis and increased nuchal translucency. Case: In the patient's first trimester ultrasound scan, fetal longitudinal bladder diameter was 19 mm and the nuchal translucency was 5 mm. Aditionally on ductus venosus doppler study there was pathologic inverted 'a' wave. At 16th week of gestation amniocentesis was performed. The result of fetal karyotyping was Trisomy 18. Pregnancy was terminated with the approval of the family. Conclusion: We want to emphasize the necessity of fetal karyotyping in cases with increased nuchal translucency accompanying fetal megacystis since probability of chromosomal abnormalities is high.

引用

页码：137 / 139

页数：3

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