Objectives: To discuss the prenatal diagnosis and management of fetal arhinia in order to optimize neonatal outcome Methods: This is a case report discussion clinical review appropriate literature Results: A fetus with diagnosed prenatally by ultrasound was managed optimally for Conclusion: Prenatal rare congenital malformation that requires consultation delivery at specialized children’s hospi...

Prenatal and postnatal ultrasonography has dramatically increased the number of infants detected with significant asymptomatic uropathology. We report of a fetus with hydronephrosis and dilated ureter, diagnosed insidentally at 25 week of gestation. On assumption of left sided ureteropelvic junction obstruction, postnatal serial diagnostic investigations including abdominal ultrasonography, voi...

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

Two versions of the argument that prenatal diagnosis discriminates against the disabled are distinguished and analysed. Both are shown to be inadequate, but some valid concerns about the social effects of prenatal diagnosis are highlighted.

BACKGROUND By decreasing preoperative morbidity, prenatal diagnosis could improve neurodevelopmental outcomes in infants with critical congenital heart disease. We explored the impact of prenatal diagnosis on perinatal and perioperative variables and on outcomes at 1 year of age. METHODS We analyzed a database of children enrolled in prospective studies on surgical support techniques from 198...

Chang CH, Chang FM, Yu CH, Liang RI, Ko HC, Chen HY. 2000. Fetal ear assessment and prenatal detection of aneuploidy by the quantitative three-dimensional ultrasonography. Ultrasound Med Biol 26: 743–749. Chang LW, Chang FM, Chang CH, Yu CH, Cheng YC, Chen HY. 2002. Prenatal diagnosis of fetal multicystic dysplastic kidney with two-dimensional and three-dimensional ultrasound. Ultrasound Med Bi...

We report about the prenatal diagnosis of pentalogy of Cantrell in the third trimester. In this case sonographic evaluation revealed mild form of ectopia cordis, severe omphalocele, small meningomyelocele, mild hydrocephalus, severe polyhydramnios and allantoic cyst of the umbilical cord. The pregnancy was terminated by a caesarean section at 35 weeks of pregnancy because of severe polyhydramni...

cell free dnas (cfdnas) are small fragments of genomic or mitochondrial dna releasing from cells into the blood stream. the presence of cfdna in the human circulatory system has been shown for the first time in 1948 however, the potential clinical applications of cfdna remained unknown until recent progress in detection and quantification of these molecules by sensitive methods. in this paper, ...

In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of miscarriage that is unacceptable to many couples. Development of non...