A five-year review of cases referred to the genetics clinic, PGH for findings of congenital anomalies on prenatal ultrasound / Conchita G. Abarquez, Maria Melanie B. Alcausin, Carmencita David-Padilla, Eva Maria Cutiongco-de la Paz

Background. Prenatal diagnosis in the Philippines has been limited to standard two–dimensional ultrasonography for antenatal screening of high risk pregnancies. Once findings of fetal anomalies are confirmed, a referral to the Genetics Clinic for prenatal counseling is recommended.Objectives. To review the prenatal cases referred to the Genetics Clinic for counseling and its neonatal outcome and to evaluate the diagnostic accuracy of two-dimensional ultrasonography performed in detecting congenital malformations in the fetus.Methods. This was a retrospective study based on clinical histories, prenatal ultrasonographic findings and neonatal outcome of 128 pregnancies referred to the Genetics clinic for prenatal counseling from January 1, 2003 to December 31, 2007.Results. The most frequently encountered congenital anomalies were malformations of the central nervous system, abdominal wall defects, hydrops fetalis and their associated anomalies. The diagnostic accuracy was 100% for abdominal wall defects and associated anomalies, 92.7% for CNS malformations and 92.3% for hydrops fetalis. Overall, the diagnostic accuracy was 91.6% with a false-positive rate of 2.8%.Conclusion. Prenatal ultrasound findings of congenital anomalies have increasingly become a major reason for referral to the Genetics Clinic. Although these fetal anomalies can be diagnosed accurately in the majority of cases by standard ultrasonography, neonatal mortality and morbidity remain high.

Nursing.