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.

defects of neutrophil function and/or differentiation, defects of motility, defects of respiratory burst, and Mendelian susceptibility to mycobacterial diseases could be classified as main diseases in the category of phagocytes defects. Severe congenital neutropenia, cyclic neutropenia, glycogen storage disease type 1b, p14 deficiency, Barth syndrome, Cohen syndrome, and poikiloderma with neutropenia are primary immunodeficiency diseases with neutrophil function/differentiation defects. Leukocyte adhesion deficiency (LAD types I-III), Rac2 deficiency, b-actin deficiency, localized juvenile periodontitis, Papillon–Lefevre syndrome, specific granule deficiency, and Shwachman–Diamond syndrome are classified in group of motility defects. Chronic granulomatous disease (CYBB, CYBA, NCF1, NCF2, NCF4) is the prototype of defects of respiratory burst. Mendelian susceptibility to mycobacterial diseases predispose individuals to mycobacterium. Mutations in several gene loci have been detected for MSMD, including IL-12RB1, IFNGR1, IFNGR2, IL12B, STAT1, CYBB, IRF8, and ISG15. GATA2 deficiency, pulmonary alveolar proteinosis along with autosomal recessive form of IRF8 deficiency are other diseases that have been classified as phagocytes defects.

Residual ventricular septal defects (VSD) are major complications after cardiac surgery. We studied the incidence of this complication, risk factors for its occurrence and short-term follow-up in 179 pediatric patients that underwent surgical closure of VSD from April 2003 until May 2004. All data were gathered retrospectively except measurements of shunt ratio. Studied risk factors included age, sex, weight, height, ejection fraction, VSD size, presence of pulmonary stenosis (PS), responsible surgeon, use of patch material for closing VSD, mean degree of hypothermia, cardiopulmonary bypass and aortic cross-clamp times, hemorrhage, documented infection, and surgical approach for defect closure. The incidence of all residual VSDs was 56% and significant ones (i.e. with Qp/Qs>1.5) 22%. The only statistically significant risk factors were higher age, weigh and height of the patients. There was notable but statistically insignificant differences in residual shunt incidence among the patients of different surgeons and with the use of different patch materials. During the median follow-up period of 9.5 months, 35% of the residual defects were closed spontaneously. Six patients underwent catheterization, three of which were candidates of residual VSD closure. As residual VSD is a hemodynamically and psychologically important complication, we recommend VSD closure at lower age and the use of intraoperative epicardial or transesophageal echocardiography to minimize its occurrence.

Holoprosencephaly is the most common embryonic brain defect. Foetuseswho survive during intrauterine life are born with varying grades of brain andfacial deformities. Extra craniofacial manifestations are common. Vertebralsegmentation defects are rarely seen with holoprosencephaly, mainly inassociation with holoprosencephaly diencephalic hamartoblastoma (HDH)association. A female infant was born at term by normal delivery. Birth headcircumference was below the 3rd percentile. Antenatal scan had showedmicrocephaly as the only abnormality. Physical examination revealedmicrocephaly, ocular hypotelorism, left ear skin tag and short neck. MRI of thebrain showed semilobar holoprosencephaly. Neck radiograph revealed grossvertebral segmentation defect involving cervical and upper thoracic vertebrae.She had initial feeding difficulties. She showed severe global developmentaldelay and had underlying central diabetes insipidus. Vertebral segmentationdefect is rare in holoprosencephaly.