Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...

Objective The introduction of first trimester nuchal translucency measurement has resulted in earlier identification of foetuses with exencephaly. Exencephaly is an uncommon congenital malformation in which the flat bones of calvaria are absent leaving the brain completely exposed or protrudes through the defect in the cranial vault. Anencephaly may ensue as a result of prolonged exposure of th...

BACKGROUND Previously reported pathological series suggest that cardiac malformations are universal in trisomy 18. We examined our experience of fetal echocardiography in trisomy 18 for comparison. METHODS Of 255 fetuses with trisomy 18 detected in our centre between January 1999 and June 2004, 174 were evaluated using fetal echocardiography. Our results were compared to four previous echocar...

OBJECTIVE Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder with a high carrier frequency in the general population. The severity of this disorder indicates the importance of early prenatal detection. In medical literature, there are a few published case reports of enlarged nuchal translucency (NT) measurement in association with a diagnosis of SMA in the fetus....

(1) Approximately three in every four fetuses with Down syndrome have increased nuchal translucency (NT), which is a larger than normal build-up of fluid at the back of the neck. (2) The ultrasound measurement of NT between 11 and 14 weeks' gestation, in combination with the mother's age and the levels of placental biochemical markers in her blood, can be used to detect approximately 84% of fet...

OBJECTIVE This study aimed to survey the current clinical practice of first-trimester ultrasonography among members of the Korean Society of Ultrasound in Obstetrics and Gynecology (KSUOG) and to provide basic data for making practical recommendations about first-trimester ultrasonography scan in Korea. METHODS This survey was conducted using a self-administered anonymous questionnaire. The f...

Objective To examine the association between increased nuchal translucency thickness and major cardiac defects in chromosomally normal fetuses. Setting Tertiary referral unit for fetal medicine and fetal