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Abstract Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has been performed in Mexico. Methods: We conducted a prospective hospital-based study from January 2017 to March 2021 in the Genetics and Pediatric Cardiology Services of the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, Mexico). All consecutive NBs identified with any non-syndromic major CHD confirmed by echocardiography were eligible to participate. A total of 98 NBs were included, 51 males and 47 females. Fluorescence in situ hybridization (FISH) analysis was conducted to search for deletion of chromosome 22q11.2 in interphase nuclei of standard lymphocyte cultures. Results: We found eight patients (8.2%) with CHD and the 22q11.2 deletion, all of them with conotruncal defects, particularly of the truncus arteriosus (p = 0.013), tetralogy of Fallot (p = 0.024), and pulmonary atresia with ventricular septal defect (p = 0.031) subtypes. With de exception of one infant with hypocalcemia and another with hypocalcemia and thymic aplasia, the diagnosis of 22q11.2 deletion was not clinically suspected in the other patients. Conclusions: Our results confirm the importance of excluding the presence of the 22q11.2 deletion in every NB with CHDs, particularly of the conotruncal subtype, even in the absence of other manifestations.
Resumen Introducción: Las cardiopatías congénitas (CC) son una de las manifestaciones más frecuentes del síndrome de deleción 22q11.2. A pesar de que existen relativamente pocos estudios dirigidos a detectar específicamente la deleción 22q11.2 en recién nacidos (RN) con CC, ninguno de ellos ha sido realizado en México. Métodos: Se realizó un estudio prospectivo de base hospitalaria desde enero de 2017 hasta marzo de 2021 en los Servicios de Genética y Cardiología Pediátrica del Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, México). Todos los RN consecutivos identificados con cualquier tipo de CC mayor no sindrómica confirmada por ecocardiografía fueron elegibles para participar. Se incluyeron 98 recién nacidos, 51 de sexo masculino y 47 de sexo femenino. Mediante el análisis de hibridación fluorescente in situ (FISH, por sus siglas en inglés) se realizó la búsqueda de la deleción del cromosoma 22q11.2 en núcleos en interfase de cultivos de linfocitos estándar. Resultados: Se encontraron ocho pacientes (8.2%) con CC y la deleción 22q11.2, todos ellos con defectos conotruncales, particularmente de los subtipos tronco arterioso (p = 0.013), tetralogía de Fallot (p = 0.024) y atresia pulmonar con comunicación interventricular (p = 0.031). Con excepción de un lactante con hipocalcemia y otro con hipocalcemia y aplasia tímica, el diagnóstico de deleción 22q11.2 no se sospechó clínicamente en los demás pacientes. Conclusiones: Los resultados de este trabajo confirman la importancia de excluir la presencia de la deleción 22q11.2 en todos los RN con CC, particularmente del subtipo conotruncal, incluso en ausencia de otras manifestaciones.
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Objective To evaluate the development of cerebral sulci and gyrus in fetuses with conotruncal defect(CTD) at the second and third trimester by ultrasound,and to improve clinician′s understanding of the cerebral cortical development in fetuses with CTD.Methods The study was conducted at Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medicial University from December 2015 to January 2017,enrolled 180 women with single fetus,among whom 60 fetuses with CTD and gestational age between 20 weeks to 33+6 weeks were diagnosed by echocardiographic examination.CTD included persistent truncus arteriosous,tetralogy of fallot,transpofition of the great arteries and double outlet of right ventricle.Evaluation indexes of cerebral sulci and gyrus included depth and angle of parietooccipital sulcus,width and depth of sylvian fissure,uncovered width of insular,uncovered insular ratio,depth of calcarine sulcus,head circumference;evaluation indexes of hemodynamics included umbilical artery resistance index,umbilical artery pulsation index,middle cerebral artery resistance index,middle cerebral artery pulsation index,the cerebral-to-placental resistance ratio and the cerebroplacental pulsation ratio.Above indexes were measured for statistical analysis.Results At the whole gestational age in the study,depth of parietooccipital sulcus and width of sylvian fissure in CTD fetuses were smaller than those in the control group,uncovered insular ratio was larger than that in the normal group(P<0.05);middle cerebral artery resistance index,middle cerebral artery pulsation index and the cerebroplacental pulsation ratio in CTD fetuses were lower than those of the control group (P<0.05).Conclusions The change of hemodynamics in fetuses with CTD may be one of the reasons that fetuses with CTD have cerebral cortical hypoevolutism.
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Objective To investigate the application value of spatio-temporal image correlation (STIC) combined with tomographic ultrasound imaging(TUI) in the prenatal diagnosis of conotruncal defects(CTD).Methods Two-dimensional(2D) fetal echocardiography to screen and TUI-STIC volumes from 1508 cases of fetuses of high risk with congenital heart disease.Postnatal work-up and pathological results were available for all fetuses with CTD.Results Thirty nine cases with CTD were found by TUI-STIC while thirty five cases were found by 2D echocardiography,but TUI-STIC had new findings and corrected the diagnosis in 9 cases as compared with 2D echocardiography.The sensitivity,specificity,positivity predictive value,negative predictive value and accuracy of TUI-STIC in evaluating CTD were 97.5 ％,100％,100 ％,99.9 ％ and 99 ％.The Kappa value of consistency test between 2DE and TUI-SIC was 0.244(P ＜ 0.01),McNemar test showed that the difference was statistically significant (P ＜ 0.01).Conclusions TUI-STIC allows a complete sequential analysis of fetal conotruncal defects and supplying additional information over 2D fetal echocardiography,it could improve the prenatal diagnosis rate.TUI-STIC is helpful in diagnosis of prenatal conotruncal defects.
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Objective To evaluate regional right ventricular function by ultrasonic strain rate imaging in postoperative children with conotruncal defects(CTD). Methods All 27 postoperative CTD children had magnetic resonance imaging evaluation of right ventricular end-diastolic volume and end-systolic volume to calculate right ventricular ejection fraction (RVEF). The ultrasonic parameters of peak systolic strain rate (SRs), peak early diastolic strain rate (SRe), peak late diastolic strain rate(SRa) and strain (S) were obtained at the basal,middle and apical segment in curve of right ventricular anterior wall in 27 postoperative CTD children and 27 normal children. The correlation between SRs,S and RVEF were evaluated. Results Compared with healthy children,SRs,S,SRe,SRa were significantly reduced in postoperative CTD children (P ＜ 0.01 ), there were different distribution rules between postoperative CTD children and normal children,and all indexes had no statistical descrepancy among the basal, middle and apical segment ( P ＞0.05). SRs in basal segment of the right ventricular anterior wall correlated well with RVEF ( r = 0.89,P ＜ 0. 01 ). Conclusions Regional right ventricular function still was reduced in postoperative CTD children, and could be accurately evaluated by ultrasonic strain rate imaging.
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Objective To evaluate the accuracy and value of ventricular function in conotruncal defects(CTD)by three-dimensional echocardiography(3DE).Methods Fifty-two children with CTD and forty-three children with normal hearts were examined by 3DE.The measurements of left ventricular volume and wall mass were outlined and calculated.The measurements of left ventricular volume and wall mass of 3DE in preoperative CTD were compared with those of 2D biplane Simpson-method in preoperative CTD,3DE in control group and 2D biplane Simpson-method in control group.The results of 3DE and 2DE preoperative measurements were also compared with their postoperative clinical cardiac conditions.Results From the findings of analysis of variance and Student-Newman-Keuls(SNK)test,there was no significant difference between 3DE and 2DE measurements of left ventricular function in normal children,but there was significant difference between 3DE and 2DE measurements of left ventricular function in children with CTD.2DE measurements of left ventricular volume and wall mass in the CTD group were significant underestimated and less correlated with their postoperative clinical cardiac conditions(r=0.20,P=0.2086)than 3DE measurements(r=0.39,P=0.0090).Furthermore,left ventricular function in the CTD group was poorer than that in the control group.Stroke volume and effective function were reduced due to increasing end-systolic volume.while left ventricular wall mass was increased due to the possible compensation of its ventricular muscle.With the lower end-diastolic volume,stroke volume and effective function,patients were more likely to have the occurrence of postoperative low cardiac output.Conclusions By making a precise quantitative assessment,3DE is very useful in providing more information for preoperative diagnosis in CTD and predicting such postoperative prognoses as the occurrence of postoperative low cardiac output.