First Trimester Antenatal Ultrasonographic Screening for Aneuploidy - So Far So Good.

Ultrasound has become an integral component of obstetric care, with the vast majority of patients having at least one ultrasound examination during pregnancy. Recent advances in obstetric ultrasonography (USG) have increased its importance in managing pregnancies at risk for aneuploidy and structural abnormality. Antenatal screening of aneuploidy, particularly Down syndrome includes biochemical markers, USG and invasive tests like chorionic villus sampling (CVS) and amniocentesis. In this article, we review and compare these screening modalities with emphasis on USG. In light of current literature, we will discuss first trimester sonographic markers associated with aneuploidy viz. nuchal translucency (NT), fetal nasal bone and ductus venosus flow and their statistical as well as clinical significance in the detection of aneuploidy. We will review the current data and status of first trimester screening for aneuploidy.

Antenatal Diagnosis of Bilateral Renal Agenesis with Potter’s Sequence: A Rare Case.

Bilateral renal agenesis is an uncommon prenatal diagnosis. It is a lethal anomaly with 50% of the fetuses being stillborn; the rest would die shortly after birth. It is also associated with many other congenital anomalies many of which have autosomal dominant or recessive inheritance. Absence of kidneys in renal fossae with pulmonary hypoplasia and oligohydramnios or anhydramnios strongly suggests the diagnosis of bilateral renal agenesis.