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BackgroundInterstitial and cornual ectopic pregnancy is rare, accounting for 2–4% of ectopic pregnancies and remains the most difficult type of ectopic pregnancy to diagnose due to low sensitivity… (More)
Congenital disorders of glycosylation (CDG) are an extremely rapidly growing and phenotypically versatile group of disorders. Conserved oligomeric Golgi (COG) complexes are hetero-octameric proteins… (More)
Abstract Background Prevention of genetic disorders in the family is gaining significance because of the burden of these untreatable and devastating disorders. Sir Ganga Ram Hospital (SGRH) has been… (More)
Fetal ventriculomegaly (FVM) is a commonly- detected anomaly in the second and third trimester ultrasound scanning. Counseling in this situation is difficult, especially when the chromosomal… (More)
Posterior urethral valve (PUV) is one of the most common causes of bladder outlet obstruction (BOO) in the fetus. It is diagnosed on antenatal ultrasound by the presence of distended urinary bladder… (More)
Gaucher disease is the most common of the lysosomal storage disorders, with a continuum of clinical features ranging from a perinatal lethal form to an asymptomatic form. Perinatal lethal Gaucher… (More)