Prenatal Diagnosis of Fetal Peters' Plus Syndrome: A Case Report

Spontaneous Resolution of a Fetal Dural Sinus Thrombosis: One Case Report and Review of the Literatures

Prenatal diagnosis and postnatal findings of cloacal malformation: a case report

Introduction: Cloacal malformation is an extremely rare fetal pathological condition but an important anomaly that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography usually showed oligohydramnios and the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambig...

Neonatal progeroid syndrome (Weidman Rautenstrauch syndrome): A case report from Jammu &Kashmir, India.

A female one month old with features supporting a diagnosis of neonatal progeroid syndrome(WRS)  presented to our neonatology section of GB pant children hospital Srinagar .she had prenatal and post natal growth failure, generalized lipotrophy, triangular face, psedohydrocephalous, sparse scalp hair and eye brows, prominent scalp veins and greatly widened anterior fontenella.

Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History.

Peters' plus syndrome is a rare autosomal recessive condition characterized by a combination of typical ocular defects and other systemic abnormalities. We present a case of this uncommon syndrome that we diagnosed during a fetal ultrasonographical examination. Because the patient exhibited microcephaly and anterior staphyloma of the right eye and because impending rupture was feared, we perfor...

I-40: Non Invasive Prenatal Genetic Diagnosis;Current Status and The Future

Discovery of cell free fetal DNA in 1997 has deeply changed the outlook of prenatal diagnosis approaches as most of the clinically established screening tests are not sensitive/specific enough while the current practical diagnostic tests are also invasive in their nature. The most common prenatal screening test is routinely practiced for the diagnosis of Down syndrome (DS) which includes a 10% ...