The pediatrician who cares for a child with a birth defect or genetic disorder may be in the best position to alert the family to the possibility of a recurrence of the same or similar problems in future offspring. The family may wish to know about and may benefit from methods that convert probability statements about recurrence risks into more precise knowledge about a specific abnormality in ...

background: factor xiii deficiency (fxiiid) is an inherited rare bleeding disorder with some life threatening clinical manifestation including intracranial haemorrhage (ich). among all polymorphisms found in fxiiid, thrombin activatable fibrinolysis inhibitor (tafi) thr325ile gene polymorphism increases probability ofichabout 20 fold in patients with fxiii .so, in this study we aimed to evaluat...

Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, ge...

The purpose of prenatal diagnosis tests is insisting of diagnosis of neonatal disorders, preparing a range of informed choices and making couples at risk to be ready for having children with genetic disorders as well. The aim of this article is to investigate all of the tests in order to determine the best one which has the lowest risk and the highest sensitivity. Screening tests (maternal bloo...

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

OBJECTIVE To examine whether in pregnancies with fetal trisomy 21 the level of maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 + 0 to 13 + 6 weeks' gestation is independent of the presence or absence of tricuspid regurgitation and to estimate the performance of a screening test that combines tricuspid regurgitation with f...

with significant improve in health-care and treatment of infectious diseases, genetic disorders have created a new era of notification. changes in social attitude towards family life and tendency of parents for limited number of children, sense of responsibility of parents for mental and physical healthiness of children along with their education, needed a new strategy. since most genetic disor...