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Is any Relation between Cytogenetic types of Down's Syndrome and Congenital Heart Disease
هل هنالك علاقة بين الفحص الوراثي (الكروموسومي) لمتلازمة داون وتشوهات القلب الوراثية

Author: Sabeeha Al-Mefraji د. صبيجة المفرجي
Journal: IRAQI JOURNALOF COMMUNITY MEDICINE المجلة العراقية لطب المجتمع ISSN: 16845382 Year: 2012 Volume: 25 Issue: 4 Pages: 304-307
Publisher: Al-Mustansyriah University الجامعة المستنصرية

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Abstract

Abstract:Background: Down's syndrome was the first of the chromosomal trisomy to be reported in 1959, Lejeune et al, with a prevalence of 0.7% live births. Garrod in 1894 who were noted a specific association between this syndrome and heart malformation. Aim: To find any relation between cytogenetic types of Down's syndrome and congenital heart disease, and early neonatal screening for congenital heart disease since early detection, help to prevent the future complication of pulmonary hypertension in old age.Patients and methods: A descriptive study done in AL-Yarmouk Teaching Hospital Neonatatology Department during one year period between January 1996- and 1997. The study involved 9000 live born infants screened for congenital anomaliese, we found 40 Down babies after full clinical examination to check the criteria of Down's syndrome and presence of congenital heart disease, then a blood sample was aspirated in a heparinized tubes and prepared for chromosomal analysis, those with congenital heart disease (CHD) were send for elective cardiograph, chest roentenography, Doppler echocardiography.Results: Out of the 40 Down's babies studied, 26(65%) were male and 14(35%) were female out of eight cases with CHD (20%) we found 3 (37.5%) had atrio-ventricular septal defect, 3(37.5%) had atrial septal defect,2(25%) had ventricular septal defect. Chromosomal pattern for all cases with CHD was Non disjunction (ND) triosomy 21.Conclusion: our study revealed no relationship between CHD types and chromosomal pattern. Prenatal screening for CHD in DS fetus and early neonatal screening for CHD as early detection, help to prevents the future complication of pulmonary hypertension in old age ,for whom new therapeutic option are available.Key words: cytogenetics, congenital heart disease.

الملخـص:تمت دراسة 9000 طفل حديث الولادة في مستشفى اليرموك التعليمي ,كمسح شامل لمعرفة حالات التشوهات الخلقية, وجد 40 طفل مصاب بمتلازمة داون بعد الفحص ألسريري لهم, وجد 8 منهم مصابين بتشوهات القلب، تم فحص الكر وموسومات لهم ,وجد كل الأطفال المصابين لديهم نفس النتيجة ,نستنتج لا توجد علاقة بين نوع فحص الكروموسومات وتشوهات القلب لدى الأطفال المنغوليين.لذا ينصح بأجراء فحص قبل الولادة للاجنه التي تحمل متلازمة داون للكشف عن تشوهات القلب أو فحص بعد الولادة مباشرة كلما يتم الكشف مبكر كلما نمنع مضاعفات ارتفاع ضغط الشريان الرئوي في الكبر حيث تتوفر وسائل علاجيه جديدة لذلك.

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