• 作者：Rita Marquez Passarinho ; Maria Geraldina Pereira da Silva Castro ; Miguel Pedro da Rocha Branco ; Lina Maria Jesus Ferreira Cardoso Ramos ; Ana Isabel Gon莽alves Antunes Rei ; Eul谩lia Maria Bento Galhano
• 关键词：Higroma quí ; stico ; Malformaç ; ã ; o congé ; nita linfá ; tica ; Aneuploidia fetal
• 刊名：Diagn贸stico Prenatal
• 出版年：October-December, 2013
• 年：2013
• 卷：24
• 期：4
• 页码：148-153
• 全文大小：343 K

Introduction

Fetal cystic hygroma (CH) is a congenital malformation prenatally diagnosed by the demonstration of a cystic structure in the occipitocervical region on ultrasound. It may appear isolated or in association with chromosomal abnormalities, fetal malformations or genetic syndromes, with a poor overall prognosis.

The main purpose of this work was the evaluation of the obstetric management and paediatric outcome for the survivors of CH.

Material and method

Retrospective analysis of 224 pregnant women with fetal CH, diagnosed or referred to our prenatal diagnosis centre, from January 1991 to July 2011.

Results

The mean gestational age at diagnosis was 13 weeks and 77.7% of cases were diagnosed in the first trimester. On ultrasound, 66 cases were associated with hydrops. Fetal karyotype was obtained in 206 cases, and chromosomal abnormalities were found in 107. Fetal karyotype was normal in 99 cases, detected 12 cases of genetic diseases and 18 cases of fetal malformations. Elective pregnancy termination was undertaken by 111 patients. There were 39 cases of spontaneous fetal demise and 61 live births. The mean follow-up of survivors was 75 months, and normal paediatric outcome was confirmed in 30 cases.

Conclusion

It is essential to clarify the underlying aetiology of CH in order to establish a prognosis and counselling. There is a strong association with fetal aneuploidy and significantly worse outcome in contrast in cases without evidence of chromosomal or structural abnormalities, most of them carrying good prognosis.