Background: It is estimated that about 3,000 pregnancies in Iran are at risk for b-thalassemia each year. Objective: To evaluate the diagnostic accuracy of combination of ARMS/PCR and  RFLP/PCR techniques in prenatal diagnosis of b-thalassemia.Methods: Sixty-seven b-thalassemia carrier families were enrolled in this study. To analyze b-globin gene, amplification refractory mutation system (ARMS...

The cryopreservation of cultured and uncultured amniotic fluid cells is of special importance in prenatal diagnosis. The freezing procedure presented gave a cell recovery of about 95% for cultivated human amniotic fluid cells combined with a rapid appearance of mitosis after inoculation.

Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists. The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management. While these advances have not yet exerted a large influence at therapeutic level, the promise of ...

Screening and diagnostic testing play fundamental roles in all fields of clinical medicine, with obstetric imaging and prenatal diagnosis being no exceptions. With advances in maternal serum screening and ultrasound technology, much research effort in the field of pre-natal diagnosis has actually been dedicated to the development and refinement of screening tests for fetal aneuploidy and other ...

BACKGROUND Haemophilias are the most common hereditary severe disorders of blood clotting. In families afflicted with heamophilia, genetic analysis provides opportunities to prevent recurrence of the disease. This study establishes a diagnostical strategy for carriership determination and prenatal diagnostics of haemophilia A in Bulgarian haemophilic population. METHODS A diagnostical strateg...

We reported a case of a t(2;14) balanced reciprocal translocation carrier mother that conceived by IVF accompanied by PGD/PGS using array-CGH; however, de novo t(2;3) was detected in the prenatal diagnosis. A healthy baby was delivered, and careful observation is needed for PGD/PGS cases.

From pregnancy to the 1st years of a child's life, families develop and increase representations and interactive competences toward the child. Prenatal diagnosis of a severe fetus' defect could profoundly alter the parental perception and development of these representations. The aim of the study was to evaluate triadic interactions in families, whose baby was prenatally diagnosed with severe g...

While there is no single best procedure for performing prenatal diagnosis, ther is a rationale or strategy which will produce correct, reliable results. The investigator should be experienced with all the tests and know what to expect from each. At least two of these tests should e used (more if there s ambiguity) on amniotic fluid and cultured cell extracts. Which tests, and how many, are not ...

In this article, we will review the history and the evolution of the technique of amniocentesis and the indications of the most common invasive diagnostic and therapeutic procedure. Moreover, the most common complications of amniocentesis will be presented. Finally, we will try to establish if the use of con current ultrasound had any effect on the prevalence on these complications.

Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even par...