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Ozgur Cogulu,
Ferda Ozkinay,
Haluk Akin,
Huseyin Onay,
Emin Karaca,
Asude Alpman Durmaz,
Burak Durmaz,
Ayca Aykut,
Erhan Pariltay, Ozgur Kirbiyik,
Cumhur Gunduz,
Cihangir Ozkinay
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ABSTRACT: A limited numbers of published studies evaluate the referral reasons for genetic counseling services in the literature. These studies are focused on prenatal genetic counseling services, in particular, prenatal diagnosis. In order to provide the most effective and helpful genetic counseling services, genetics professionals need adequate knowledge about the profile of individuals referred for these services. In addition, physicians need increased awareness of the nature of genetic issues in order to make appropriate referrals. This study was intended to provide a descriptive analysis of the referral reasons of patients that received genetic counseling at a genetics center in Izmir, Turkey during an 11-year period. A total of 8965 records generated between 1998 and 2008 from one genetic center (which consists of The Department of Medical Genetics and Division of Pediatric Genetics) were evaluated retrospectively. Of these, 6,258 involved referrals for prenatal reasons, and 2,707 involved referrals for postnatal reasons. Both prenatal and postnatal records were further classified into more specific categories of referral reasons. The most common reason for genetic counseling among the prenatal patients was advanced maternal age (42.0%), followed by high risk results on prenatal biochemical screening tests such as second trimester double test [(serum concentration of alphafetoprotein (AFP), beta-human chorionic gonadotropin (beta-HCG)], triple test (serum concentration of AFP, beta-HCG, oestriol) and integrated test (26.5%). The most common indications for postnatal patients were recurrent miscarriages (28.2%) and infertility (19.7%). A significant increase in number of specific categories of referrals for genetic counseling was observed for the last 3 years after the establishment of the Medical Genetics Department. These data provide useful information about the frequency of referrals to the genetics department, and the feasibility of genetic services. Organization of genetic services and systematic procedures for genetic counseling and genetic testing may improve the public's awareness of genetics and ensure a high standard of patient care.
Journal of Genetic Counseling 01/2011; 20(3):287-93. · 1.77 Impact Factor
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ABSTRACT: Our study aimed to review and evaluate the referral reasons of patients at Department of Pediatric Genetics, Ege University, between 1998 and 2006. In total, 2342 patients were referred to the pediatrics outpatient clinic for dysmorphological examination and suspected genetic conditions. The files were evaluated retrospectively, and they were grouped into five categories. The subgroups included mental retardation (MR)-multiple congenital anomalies and isolated anomalies in 1472 (62.85%), syndromes that may be associated with cytogenetic abnormalities in 634 (27.07%), suspected single-gene disorders in 134 (5.72%), suspected microdeletion syndromes in 48 (2.05%), and other genetic conditions comprising complex multifactorial disorders and ambiguous genitalia in 54 (2.31%). These data have provided useful information on the frequency of different groups of genetic diseases, genetic causes of MR, and the feasibility of genetic services. In conclusion, genetic service should be encouraged among physicians and patients in addition to the diagnosis, prognosis, and disease management efforts.
Genetic Testing and Molecular Biomarkers 05/2009; 13(2):163-6. · 1.11 Impact Factor
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ABSTRACT: Seckel syndrome is an autosomal recessive disease presenting with microcephalic dwarfism, mental retardation and facial and skeletal abnormalities. Morgagni hernia is quite rare, constituting 1-6% of all diaphragmatic hernias. It is asymptomatic, especially in childhood. Morgagni hernia has never been reported in patients with Seckel Syndrome. Here we report a 3-year-old boy diagnosed as having Seckel Syndrome with Morgagni hernia, which has to be considered during physical examination of patients.
Clinical Dysmorphology 08/2007; 16(3):209-10. · 0.54 Impact Factor
