objective: pre-natal diagnosis is the most effected way to prevent genetic diseases in a society. the aim of this research was to show the prevention level of the birth of the children with major thalassemia disorder and the demographic condition of the people referring to the shahid dastgheib genetic center in shiraz for the pre natal diagnosis. materials and methods: the present research was ...

organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.three approaches to prenatal diagnosis may be possible, including measur...

BACKGROUND Transabdominal chorionic villous sampling is generally preferred to the transvaginal approach. The procedure may, however, be associated with complcations due to a number of factors. OBJECTIVES To review the relationship between the number of cases and other variables in transabdominal chorionic villous sampling and also to identify the complications associated with the procedure. ...

Method: This was a retrospective study of the pregnancy outcome of 299 women who underwent invasive prenatal diagnosis by using amniocentesis at 14 weeks of gestation, amniocentesis at ≥15 weeks of gestation and chorionic villous sampling. We compared the pregnancy outcomes and the complications in the 3 groups by using the Pearson’s χ2 test or the Fisher’s exact test. Results: There was no sig...

BACKGROUND Chorionic villous sampling is a first trimester invasive diagnosis procedure that was introduced in Nigeria < 2 decades ago. OBJECTIVE The objective of the following study is to review experience with chorionic villous sampling in relation to clinical and laboratory procedures, including general characteristics of women, indications and outcome, complications, laboratory analysis a...

2.4 Invasive Diagnostic Tests .......................... 11 2.4.1 Amniocentesis ............................................. 11 2.4.2 Chorionic Villous Sampling (CVS) ............ 11 2.4.3 Prenatal Maternal Serum Screening ........... 11 2.4.4 Fetal Blood Sampling (FBS)....................... 12 2.4.5 Fetal Surgery ............................................... 12 2.4.6 Genetic Diagnoses .......

Samples of chorionic villi were obtained in the first trimester by aspiration using a cannula passed transcervically under the guidance of real time ultrasound. In initial studies in 47 anaesthetised patients immediately before therapeutic abortion a method was developed giving a success rate of 89%. In 10 patients successful sampling was performed as an outpatient procedure without anaesthesia...

Normal chorionic villous vascularization is essential for the undisturbed development of pregnancy. Defective vasculogenesis may play a role in pathological pregnancy. To assess pathological chorionic villous vascularization, normal vascularization has to be defined first. Few data are available on this topic. The aim of this study was therefore to investigate normal chorionic villous vasculari...

OBJECTIVE To establish intrauterine diagnosis of thalassaemia major in couples with thalassaemia trait by chorionic villous sampling. METHODS A total of 60 couples with children suffering from transfusion dependent beta-thalassaemia or couples who were known carriers of beta-thalassaemia were included in this study. The standard procedure was followed for the collection of samples which was f...