introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...

in this study, chromosome analyses were performed on 70 infertile azoospermic and oligospermic (<20 million/ml) men, and also cultures of peripheral blood lymphocytes by high resolution banding method were analysed as well. it is revealed 8 (11.43 percent) men with chromosomal abnormality. there were 31.4 percent patients with azoospermia and 68.6 percent with oligospermia from several thousand...

Prenatal diagnosis of chromosomal disorders requires an invasive test in women regarded as being at high risk after screening. There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first and second trimesters of pregnancy. With the association of some biochemical markers, it is possible to identify about 90% of chromosomal abnormalities....

OBJECTIVE Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques. MATERIALS AND METHODS In this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 i...

OBJECTIVE To estimate the incidence and type of chromosomal abnormalities in patients with primary and secondary amenorrhoea in Hong Kong. DESIGN Cytogenetic analysis and retrospective review. SETTING Clinical Genetic Service, Department of Health, Hong Kong. PATIENTS Case records of 549 patients with either primary (n=237) or secondary (n=312) amenorrhoea referred to the Clinical Genetic...

Background: Recurrent pregnancy loss (RPL) is a multifactorial problem associated with genetic abnormalities reflected by inherited disorders. The aim of the present study was to investigate the contribution of heterochromatin polymorphism in couples with recurrent miscarriages compared with couples without miscarriages. Materials and Methods: Over a 3 year period, we made a study of the diagno...

infertility affects approximately 15% of couples worldwide. within 50% of cases, man provides reproductive function disorders (1). the cause of infertility in men with oligospermia and azoospermia seems to be due to underlying genetic abnormalities (2). chromosomal abnormalities are one of the causes of human infertility as they interfere with spermatogenesis. the frequency of chromosomal aberr...

Guidelines on karyotyping infertile men before ICSI treatment are not consistent. Most guidelines recommend chromosomal screening in azoospermic and severe oligozoospermic men, because they are assumed to have the highest risk of abnormalities. We performed a retrospective cohort study in azoospermic men and men eligible for ICSI. We determined the prevalence of chromosomal abnormalities in rel...

STUDY QUESTION How many infertile men who wish to conceive need to be screened for chromosomal abnormalities to prevent one miscarriage or the birth of one child with congenital anomalies (CAs)? SUMMARY ANSWER In azoospermic men, the prevalence of chromosomal abnormalities is 15.2% and the number needed to be screened (NNS; minimum-maximum estimate) for a miscarriage is 80-88 and for a child ...

Case presentation: Comparative genomic hybridization based on microarrays (array CGH) is a reality in clinical practice the neuropediatric population. It allows high-resolution assessment of DNA copy number changes associated with chromosomal abnormalities. Objective: To highlight importance using technique investigation patients diverse phenotypes. Methods: Series case studies.