OBJECTIVE To determine the frequency, indications, and outcomes of diagnostic invasive prenatal procedures (DIPP) performed in a university hospital. MATERIALS AND METHODS This retrospective, observational study included 2185 cases of DIPP (chorionic villus sampling, amniocentesis, and cordocentesis) performed at the department of obstetrics and gynecology of a university hospital between 201...

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...

Background: Chorionic villus sampling(CVS) has a major role in prenatal diagnosis . It is an invasive diagnostic method in completion of primary prenatal screenings. This article is a report of our 8 years experience of CVS in Mashhad. Materials and Methods: We have done 1511 cases of invasive diagnostic procedure including 723 CVS which were included in our study and also 788 cases of amniocen...

Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnan...

The trends in prenatal diagnosis of enzyme defects predicted last year,' namely an increase in diagnosis in the first trimester by chorionic villus sampling and early amniocentesis and greater exploitation of DNA analysis and the diagnosis of genetic errors in preimplantation embryos, have been fulfilled. These developments were also reflected in the papers presented at the 5th International Co...

Inherited genetic diseases have been a problem for some families attempting to conceive a child. If affected parents or carriers of genetic disorders wished to avoid transmitting a condition to their child, they can choose to have prenatal diagnosis of their foetus. Amniocentesis or chorionic villus sampling enables cells from the foetus to be collected and sent for genetic analysis. They could...