• 作者：Paula Isabel G&#243 ; mez Arriaga^a ; Ignacio Herraiz Garcí ; a^a ; David Escribano Abad^a ; Francisco Javier Ferná ; ndez Martí ; nez^b ; Ana Moreno Izquierdo^b ; Marí ; a José ; G&#243 ; mez Rodrí ; guez^b ; Alberto Galindo Izquierdo^a ; ^{agalindo.hdoc@salud.madrid.org}
• 关键词：Cromosomopatí ; a ; Cardiopatí ; a congé ; nita ; Diagnó ; stico prenatal ; Cariotipo fetal
• 刊名：Diagn¨®stico Prenatal
• 出版年：2013
• 出版时间：January-March, 2013
• 年：2013
• 卷：24
• 期：1
• 页码：15-22
• 全文大小：406 K

Objectives

To assess the relationship between congenital heart defects (CHD) and chromosomal abnormalities in fetal life.

Methods

This is a retrospective study undertaken at a tertiary care referral center. Our database was queried for cases of CHD prenatally diagnosed between 1990 and 2011, with postnatal diagnostic verification, as well as information available as regards the karyotype. The recommendation for performing fetal invasive procedures relied upon the type of CHD and the presence of associated high-risk factors of chromosomal disease.

Results

A total of 1,384 CHD were retrieved and analyzed. The karyotype was studied prenatally in 848 (61.3 % ) and in the rest was either studied postnatally (172, 12.4 % ) or the presence of chromosomal disease was clinically ruled out given the absence of suggestive clinical markers (364, 26.3 % ). Chromosomal defects were diagnosed in 363 CHD (26.2 % ). The diagnosis was made prenatally in 324 (89.3 % ), and after birth in 39 (10.7 % ). In most of these cases (n = 28) the parents refused fetal invasive testing. We found that atrioventricular septal defect was the CHD most associated with chromosomal abnormalities (66.7 % ). On the contrary, we did not observe any chromosomal defect in CHD, such as transposition of large arteries or single ventricle. Similarly, there was no abnormal karyotype in isolated tricuspid atresia or in heterotaxy syndromes presenting without anomalies other than those typically included in the disease.

Conclusions

Karyotype analysis is highly relevant in fetuses with CHD, given its impact in the parental decision-making process and patient outcome. Nevertheless, the recommendation of performing fetal invasive testing should be based on the individual characteristics of any given case, and in many cases the risks associated with the invasive procedure could be avoidable.