CHROMOSOMAL DEFECTS are one of the commonest congenital DEFECTS responsible for fetal and neonatal death and handicap. The traditional method of screening for Down’s syndrome has been maternal age where amniocentesis or chorionic villous sampling is offered to women aged 35 years or more. This results in the need for an invasive test in 15-20% of pregnant women with a detection of less than half of the fetuses with Down’s syndrome, because the majority of affected fetuses come from the younger age group. A more effective method of screening is based in the combination of: maternal age, a maternal blood sample for the measurement of the placental products of free b-hCG and PAPP-A and an ultrasound scan at 11-13 weeks; to measure the collection of fluid behind the fetal neck (nuchal translucency), to examine the fetal nose and palate, to measure the fetal heart rate and to assess the flow of blood across the tricuspid valve of the fetal heart and the ductus venosus.This new method of screening reduces dramatically the number of women requiring an invasive test from about 20% to less than 3% and at the same time increases the detection rate of Down’s syndrome and other major CHROMOSOMAL abnormalities from less than 50% to more than 95%.There are several other benefits of the 11–13 weeks scan as well including: accurate dating of the pregnancy, early diagnosis of many major fetal abnormalities, and the detection of multiple pregnancies with reliable diagnosis of chorionicity, which is the main determinant of the outcome in multiple pregnancies Although there are some markers at second trimester (sonographic and biochemical) to assess risk of CHROMOSOMAL abnormalities but detection rate is less than first trimester and also early diagnosis ( in first trimester) and early termination is much better regarding patient’s preferences, less complications and less psychological stress.

Objectives: The study aimed to assess the frequency and type of abnormal karyotype in Khuzestan, Iran by amniocentesis before 22 weeks of gestation. Methods: We conducted a retrospective analysis of 1197 amniotic fluid specimens in Khuzestan province, before 22 weeks gestations for fetal karyotyping. Results: The incidence of abnormal aneuploidies was 4. 9% (59 of 1197) for all specimens. The highest CHROMOSOMAL abnormality was Down syndrome (64. 4%). Conclusions: The rate of CHROMOSOMAL abnormalities was higher than other reports from Iran and all over the world. The detection rate of Down syndrome similar to other reports remains high.

Background: The aim of this study was to investigate the prevalence of congenital heart DEFECTS in children with Down's syndrome in Imam Khomeini Hospital in a period of 2 years (2001-2002).Methods: Based on their medical files and echocardiographies, 32 patients with Down’s syndrome were evaluated during study. Findings: The cytogenetic analysis in these patients (19 males and 13 females) revealed that 29 cases (90.7%) had trisomy 21, 2 cases (6.2%) had translocation and only one case (3.1%) was mosaic. Family history for heart diseases was positive in 2 patients (6.2%). The findings of echocardiography were as follow: endocardial cushion defect (ECD) in 16 cases (50%), ventricular septal defect (VSD) in 7 cases (21.8%), atrial septal defect (ASD) in 6 cases (18.7%), tetralogy of Fallot (TOF) in 2 cases (6.2%), patent ductus arteriousus (PDA) in one case (3.1%).Conclusions: The diagnosis of congenital heart DEFECTS in children with Down’s syndrome is crucial because treating them in due course results in dramatical decrease in the mortality and morbidity rates of these patients.

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Objective: We present 20-days old boy with congenital heart DEFECTS, partial syndactyly and mild facial anomalies including thin upper lip and high arched eyebrows. CHROMOSOMAL analysis revealed an extra CHROMOSOMAL material on the long arm of one chromosome 5, resulting in 46, XY, dup (5) (q22q31. 3). We compare the clinical characteristic of our patient with those of the previously reported cases with 5q duplication in an attempt to define the phenotype-genotype correlation. Introduction: Partial duplication of long arm of chromosome 5, based on the length and the loci can lead to different clinical problems and phenotypic features. These include congenital heart DEFECTS, growth and developmental delay, facial anomalies, psychomotor retardation, syndactyly and brachydactyly. To our knowledge, twelve patients have so far been reported with the duplication of long arm of one chromosome 5. Patient information: The patient is a 20-days-old boy and the only child. He was born at 37+ 0 weeks of gestation after an uneventful pregnancy. His weight at birth was 2570 grams and height was 45 centimetres. His mother was 26 years old and had no history of abortion. She does not have any familial relationship with her husband. Both his parents have normal karyotype. Conclusion: Cytogenetic investigation in patients with congenital heart DEFECTS is of great value and is highly recommended.