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Prenatal Diagnosis

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family

Authors: Solveig Schulz1*, Claudia Gerloff2, Susanne Ledig1, Dorothea Langer3, Mariannne Volleth1, Katayoon Shirneshan1 and Peter Wieacker1,4 Objectives We report two siblings with Roberts syndrome (RBS), and an attempt to delineate the underlying molecular mechanism leading to familial recurrence. Methods Cytogenetic studies and direct sequencing of the ESCO2 gene were carried

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Non-Invasive Prenatal Determination of Fetal RhD Genotyping from Maternal Plasma: A Preliminary Study in Pakistan

Authors: Nuruddin Mohammed, Fatima Kakal, Mehreen Somani and Wajiha Zafar ABSTRACT Objective: To determine the accuracy of the non-invasive pre-natal real-time polymerase chain reaction based fetal RhD genotyping from maternal plasma. Study Design: Cross-sectional study. Place and Duration of Study: Juma Health Sciences Research Laboratory, The Aga Khan University Hospital,

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