Primary immunodeficiency diseases are genetically determined disorders. It is of prime importance to thoroughly evaluate a suspected immunodeficiency for early diagnosis, proper treatment and genetic counseling. In this paper, when to suspect a primary immunodeficiency, and the clinical and laboratory evaluation in these disorders will be discussed.

Until 1980s the only indications of invasive diagnosis of fetal chromosomal abnormalities were maternal age and family history of chromosomal abnormality. Down Syndrome (DS) is the most frequent fetal chromosome abnormality. Although it is associated with increased maternal age, approximately 75 % of pregnancies with DS are seen in women younger than 35 and screening tests development for fetal chromosomal abnormalities, has accelerated. Therefore second trimester screening tests developed by using maternal biochemical markers such as alpha-fetoprotein (AFP) human chorinonic gonadotrpin (hCG), uncujugated estriol (E3) and inhibin-A which is associated with DS. It has a %81 detection rate with % 5 false positive. However, it doesn t allow for chorion villus sampling (CVS) first trimester was developed in 1990s. 2 markers were used; sonographic and biochemical. Combination of nuchal translucency and maternal serum levels of pregnancy associated protein (PAPP-A) and BhCG the detection rate increase to % 87. Recently the first and second trimester screening tests are combined in integrated and sequential tests Screening strategy chosen will depend on the opportunities. For he first trimester screening there is a need of expert for NT measurement and to have adequate technical equipment. Sequential and integrated tests aren t cost-effective. Therefore, the second-trimester screening test is still most widely used. Screening test results specified over the cutoff level as positive, below the cutoff as negative. Screen positive doesn t mean that the fetus is affected, it means high risk for disease of interest. The genetic counseling should be nondirective informative for prenatal diagnosis.

OBJECTIVE: To assessment the success of assisted reproductive treatment with the results of uterine artery Doppler indices on the day of embryo transfer.
METHODS: Sixtyone primary infertile patients under the age of 40, who have normal ovarian reserve were inserted to the study. The antagonist protocol was used for controlled ovarian stimulation. Bilateral uterine artery Doppler indices were measured on the day of embryo transfer. Then the treatment and the Doppler results were compared to each other.
RESULTS: Only 20 patients were not conceive (32.8 %). The clinical pregnancy rate was 67.2 % (n=41). Pulsatility index on the right uterine artery were 1.71±0.39 ve 2.56±1.01 (p=0.05), on the left uterine artery were 1.41±0.61 ve 2.77±1.13 (p=0.03) for pregnant and non pregnant patients respectively. Other indices were not significantly different.
CONCLUSION: Only Pulsitility Index among the uterine artery Doppler indices can be used for the assesment of endometrial reseptivity.

OBJECTIVE: Premature rupture of membranes (PROM) is the most important cause of early neonatal septicemia. Clinical choriamnionitis, male gender,perinatal asphixia, prematurety, time of rupture of membrane, abnormal colonization and/or genitourinary infection at mother are the risk factors those increases septicemia in PROM. The aim of our study was to search effect of prom on septicemia in term and preterms and describe frequency and risk factors.


METHODS: Newborns who were born and alived between January 2006 and December 2007 in our hospital and whose mother had PROM were investigated. Term and preterms with PROM were compared according to frequency of septicemia, mortality and morbidity.
RESULTS: The number of newborns who were born and alived between January 2006 and December 2007 in our hospital was about 38422 and 730 of these infants had PROM at mothers. 44 % of infants were preterms and 56 % were terms. Altough male/female ratio was same at both two groups, the ratio of being SGA (small for gestational age) was significantly higher in preterms according to terms. Early infection was detected in 4.2 % of all infants with PROM, 8 % of preterms and 1.2 % of terms. Mean prom duration was 145.4±151 hour (24 hour-30 days) in patients who were infested and 80±181 hour (18 hour-75 days) in patients who were not infected (p=0.051). 3.4 % of infants with PROM were presented with clinical choriamnionitis but early septicemia was seen in none of these infants. Infection was developed in 38 % of preterms with perinatal asphixia. It was seen that perinatal asphixia is risk factor infection in preterms. Reproduction in mother cultures was confirmed in 23 % of preterm and 40 % of terms who were followed up with early infection. Mean birth weight of infected infants was 1770±480 gr and was 2490±840 gr in non-infected infants. Mean gestational week of infected infants was 34±2.6 week and was 36±3.1 week of non-infected infants.


CONCLUSION: SGA, presence of asphixia, reproduction in mother’s cervical or urinary culture increased early infection risk in additon to preterm labor and low birth weight beside this gender, chorioamnionitis and prom duration were seen not to effect the infection development.

OBJECTIVE: Urinary tract infection (UTI) was reported to be high among the patients with urolithiasis, though the incidence of infection stones decreased over the 2 decades. The aim of this study was to evaluate the factors related to UTI in urolithiasis such as age, vesicoureteral reflux (VUR), metabolic risk factors and features of the stone comparing the patients with and without UTI.
METHODS: Our study group consisted of 113 patients with urolithiasis. The data about patients such as laboratory tests and radiologic imaging were obtained from patient files.


RESULTS: Fifty nine children (52.2 %) had UTI. The frequency of UTI was significantly higher in the patients younger than 2 years old compared with in the older patients (p=0.0006). Of the 23 patients who applied to hospital because of UTI, 17 (73.9 %) were younger 2 years old. Twenty-one children (18.5 %) had VUR in whole study group. VUR was established in 15 of the 59 patients (25.4 %) with UTI and 6 of the 54 children (11.1 %) without UTI. The incidence of VUR was higher in the patients with UTI than in those without UTI and the possibility of coexisting VUR was 2.9-fold higher in the patients with UTI (p=0.06 OR: 2.9).


CONCLUSION: Because patients with urolithiasis may apply to hospital with UTI, urolithiasis should be investigated in the infants with UTI. Among the children with urolithiasis, VUR is common in the patients with UTI and VCUG should be performed in the patients with recurrent UTI.

OBJECTIVE: To evaluate the dispersion of congenital vertebra abnormalities detected and terminated in our perinatology department.


METHODS: One hundred and seventy one cases with congenital vertebra anomalies, which were evaluated in the hospital’s neonatology-perinatology council and decision of parents for pregnancy termination were analyzed retrospectively.
RESULTS: Among 171 patients with vertebra abnormalities, 153 cases with open neural tube defects were found. Spina bifida was most commonly associated with anencephaly (31.2 %) and acrania (9.7 %), followed by iniencephaly (7.6 %). In cases with intracranial pathologic development, termination of pregnancy was recommended. Six cases with iniencephaly were observed and terminated. Of seven cases with scoliosis, 3 cases were associated with open neural tube defect and the other 4 were complicated with skeletal dysplasia. Two cases with hemivertebra decided for termination of pregnancy. One case with diastematomyelia were associated with neural tube defect. We found also one case with caudal regression, another one with sirenomelia with decision for termination. In 4 of 5 cases with sacrococcygeal teratoma, hydrops developed following intrauterine fetal demise.
CONCLUSION: Vertebral malformations develop in early embryogenesis and early prenatal diagnosis is possible. However, the prognosis of vertebral pathologies deteriorate with intracranial interaction. The option of pregnancy termination should be offered to this group.

OBJECTIVE: In this study we aimed to determine the frequency of RSV infections in children under two years who were admitted to our clinics with upper respiratory tract infection. We also evaluated the demographic characteristics such as age, sex, number of siblings, history of breast feeding, mother care, contact with a RSV infected person and the laboratuary value differentiation during the course of the disease in children with RSV infection.
METHODS: A total of 298 children under two years who attended to our emergency clinic with upper respiratory tract infection symptoms between March 2007 and March 2008 were included. The detection RSV was carried out by fast immunochromatographic test on nasopharyngeal aspirates and swabbing samples.
RESULTS: Sex and age distribution were as 58.1 % males and 41.9 % females with a mean age of 7.3±5.0 months (30 day-23 month). The seasons during which the patients applied more frequently because of bronchiolitis or bronchopneumonia were autumn and winter, with November, December and January scoring highest for RSV positivity. RSV antigen positivity was significantly higher in infants who were not breastfed, who lived in crowded families, who had a contact with a person with respiratory tract infection and who had an underlying disease.
CONCLUSION: While there was a high rate of RSV detection in the cases who applied in a short period after the symptoms, there was no correlation between the presenting complaints and RSV positivity. Among physical examination findins postnasal drip, pharyngeal hyperemia, otitis media, fine crackles and tachypnea were more common in RSV positive cases as the presence of infiltrations in chest x-ray. Other laboratory and clinical findings were not found to be significant.to differentiate RSV positive and negative cases.

The Jarcho–Levin syndrome is a specific form of spondylocostal / spondylothoracic dysostosis. There have been various classifications of this syndrome, but it is mainly classified in two subgroups (spondylothoracic dysplasia and spondylocostal dysplasia) with different outcomes. We present a pregnancy with unremarkable obstetric and familiy history, and prenatal diagnosis. Postnatal x-ray exploration and autopsy confirmed our prenatal diagnosis

Kawasaki disease is an acute febrile systemic vasculitis presenting with unknown etiology. Coronary artery aneurysms or ectasia may develop in 15 % to 25 % of untreated children and may lead to sudden death or ischemic heart disease later in life. So early diagnosis and treatment with intravenous immunoglobulin (IVIG) and acetyl salicylic acid (ASA) are important. In this study diagnosis and treatment principles of Kawasaki disease are discussed by presenting two cases. One of the cases was treated on time and had no complications while the second case developed cardiac complications due to delayed diagnosis.