Postgraduate Institute of Medical Research, India
Scientific Tracks Abstracts: Primary Health Care
Hydrocephalus is one of the most common major congenital anomalies occurring in approximately 0.3 to 1/1000 live births. The etiologies of congenital hydrocephalus include infections, vascular abnormalities, mechanical obstruction and chromosomal abnormalities. In genetic terms, the isolated (non-syndromic) form of hydrocephalus is a primary and major phenotype caused by a specific faulty gene. It is estimated that about 40% of hydrocephalus cases have a possible genetic etiology. It can be X-linked or autosomal recessive or even autosomal dominant. The recurrence risk excluding X-linked hydrocephalus is low. Empiric risk rates range from <1% to 4%. Here, we present two cases of non-consanguineous couples with no previous family history presenting to us with fetal hydrocephalus in consecutive pregnancies associated with aqueductal stenosis. In our first case the mother had one neonatal loss due to hydrocephalus, termination of second pregnancy due to same defect and a third live birth with the same defect. In our second case the mother had one neonatal loss due to hydrocephalus, termination of second pregnancy for the same and she came to us for pre-conceptional counseling. Genetic analysis was not done in either case. The correct molecular diagnosis can provide the parents with the recurrence risk together with the possibility of prenatal genetic diagnosis for a future pregnancy.
Snigdha Rao is a final year Post-graduate student of the prestigious Post-Graduate Institute of Medical Research, Chandigarh, India. She was the best out-going student of her batch in her MBBS from the prestigious Osmania Medical College, Hyderabad. She was the Joint Secretary of OSMECON-12, Undergraduate National Conference and the Editor-in-Chief of the conference magazine. She is interested in pursuing Fetal Medicine.
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