abstract background thalassemia is common in the iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. the molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly locat...

Up till the early 1970s, prenatal diagnosis of congenital anomalies was primarily aimed at detecting chromosomal abnormalities by amniocentesis.1. Over the last two decades, prenatal diagnosis has greatly benefited from advances in ultrasound technology and in our ability to detect microscopic and submicroscopic chromosome abnormalities as well as single gene disorders, leading to substantive i...

OBJECTIVE To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. METHODS We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and Decembe...

OBJECTIVE Analyze indications and type of prenatal diagnostic procedures performed. METHOD This retrospective audit was conducted at a dedicated fetal medicine center in Petaling Jaya. All invasive prenatal diagnosis procedures performed from 2003 up until 2010 (amniocentesis, chorionic villous sampling and fetal blood sampling) were analyzed. RESULT A total of 1560 invasive prenatal diagno...

In the Prenatal Diagnosis special issue of July 2010, a good prediction was made by the author (Dennis Lo, 2010) on non-invasive methods of diagnosis of fetal anomalies. Non-invasive prenatal diagnoses are useful in the detection of fetal genetic abnormalities, aneuploidies and high-risk pregnancy. Fetal DNA analysis in maternal plasma using single molecule analysis method, no doubt, will defin...

Objective: This study aimed to investigate the role of cell-free fetal DNA (cff-DNA) in the maternal plasma in the prenatal diagnosis of chromosomal abnormalities. Methods: The results of cell-free DNA detection of maternal plasma were retrospectively reviewed in 1440 pregnant women, and the pregnancy outcomes were followed up. Results: (1) Of 1440 pregnant women, 20 had a high risk for trisomy...

Prenatal screening and diagnosis are routinely offered at antenatal care clinic visits, and are important in decision making about the continuation of pregnancies affected by genetic conditions for which there are no cures, and prevention through therapeutic abortion is a reasonable option. Prenatal screening is offered to all pregnant women and include fetal ultrasonography and maternal serum ...

Risk of birth defects in multiple pregnancies Frequency of monozygotic twins remains constant, while dizygotic twins become more frequent as maternal age increases. In these cases the risk that at least one fetus is aneuploid will be twice the maternal age risk for a singleton while the probability of both fetuses being involved is minimal. Dizygotic twins have a six fold increased risk that on...