Ultrasonography is a non-invasive method for prenatal detection of diastrophic dysplasia (DTD) in the second trimester of pregnancy. As there is a need for genetic counselling as early as possible we wished to develop a method based on molecular analysis. Five fetuses in families with a previous history of DTD were studied by typing them and their relevant family members for DNA markers closely...

Anencephaly is an embryological malformation of the central nervous system, invariable lethal, characterized by the absence of the brain and cranial vault and by other defects of the cranial structures. It has no cure but it can be detected during the pregnancy with ultrasonography. We present a rare case of a 15-year-old primipara, with no prenatal care, who delivered at 37 weeks an anencephal...

down syndrome (ds) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. it is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. although the syndrome had been described thousands of years before, it was named after john langdon down who described ...

introduction: estimation of gestational age is an essential component of prenatal care. gestational age is estimated by last menopausal period, fundal height and ultrasonography. serial measurment of fundal height and comparison with lmp predicts the g.a more accurately. since nowadays, ultrasonography is used more frequently during pregnancy, patients have to bear more expenses. but we can use...