Volpe Paolo, Marasini Maurizio, Caruso Gilda, Marzullo Andrea, Buonadonna Antonia Lucia, Arciprete Paolo, Di Paolo Salvatore, Volpe Gennaro, Gentile Mattia
Department of Obstetrics and Gynecology, Hospital, Bari, Italy.
Prenat Diagn. 2003 Sep;23(9):752-7. doi: 10.1002/pd.682.
One hundred and forty-one consecutive cases of malformations of the outflow tracts or interrupted aortic arch (IAA), detected by fetal echocardiography, underwent detailed anatomy scan, karyotyping and fluorescence in situ hybridization analysis (FISH) to detect the prevalence of 22q11 microdeletion and to evaluate neonatal clinical findings and outcome according to the presence of the genetic defect. Then, we sought to investigate whether some prenatal ultrasound findings could help identify fetuses at higher risk of carrying the 22q11 microdeletion.
Echocardiography and FISH for the DiGeorge critical region (22q11) were performed in all cases.
22q11 microdeletion was detected in 28 of 141 fetuses (19.8%). Intrauterine growth restriction (IUGR) appeared to be associated with the worst prognosis, being present in 2/2 intrauterine fetal deaths and 5/6 post-natal deaths. IUGR, additional aortic arch anomalies and thymic hypo/aplasia were significantly more frequent in fetuses with 22q11 microdeletion (p=0.011, 0.011 and <0.0001, respectively). Prenatal ultrasound thymus examination, performed on the last 84 fetuses, showed 75% sensitivity and 94% specificity. The combination of 2 predictors, namely, thymus defects and IUGR associated with additional aortic arch anomalies reached more than 90% sensitivity and 100% specificity.
Our study demonstrates that 22q11 microdeletion occurs in 20% of malformations of the outflow tracts and IAA type B, as detected in utero, and that this association is significantly predicted by the presence of associated ultrasound findings: thymic hypo/aplasia, IUGR and additional aortic arch anomalies. The feasibility of a correct prenatal diagnosis should enable clinicians to provide the couple with further informative counselling and to plan adequate post-natal medical interventions.
对141例经胎儿超声心动图检测出的流出道畸形或主动脉弓中断（IAA）连续病例进行详细的解剖扫描、核型分析和荧光原位杂交分析（FISH），以检测22q11微缺失的患病率，并根据基因缺陷的存在情况评估新生儿的临床表现和结局。然后，我们试图研究某些产前超声检查结果是否有助于识别携带22q11微缺失风险较高的胎儿。
对所有病例进行超声心动图检查和针对DiGeorge关键区域（22q11）的FISH检测。
141例胎儿中有28例检测出22q11微缺失（19.8%）。宫内生长受限（IUGR）似乎与最差的预后相关，在2例宫内胎儿死亡和6例产后死亡中有2例和5例出现IUGR。IUGR、额外的主动脉弓异常和胸腺发育不全/发育不良在22q11微缺失胎儿中明显更常见（分别为p = 0.011、0.011和<0.0001）。对最后84例胎儿进行的产前超声胸腺检查显示，敏感性为75%，特异性为94%。胸腺缺陷和与额外主动脉弓异常相关的IUGR这两个预测指标的组合，敏感性超过90%，特异性达到100%。
我们的研究表明，在子宫内检测出的流出道畸形和B型IAA中，20%存在22q11微缺失，并且相关超声检查结果的存在可显著预测这种关联：胸腺发育不全/发育不良、IUGR和额外的主动脉弓异常。正确的产前诊断的可行性应使临床医生能够为夫妇提供更多信息性咨询，并规划适当的产后医疗干预措施。
