Congenital anomalies are not only one of the main killers for infants but also one of the major causes of deaths under 5. Among congenital anomalies, Down syndrome or trisomy 21 (T-21) and neural tube defects (NTDs) are considered the most common. Expectant mothers in developing countries may not have access to or may not afford the advanced prenatal screening tests. To solve this issue, this paper explores the practicality of using only the basic risk factors for developing prediction models as a tool for initial risk assessment. The prediction models are based on logistic regression. The results show that the prediction models do not have a high balanced classification rate. However, these models can still be used as an effective tool for initial risk assessment for T-21 and NTDs by eliminating at least 50% of the cases with no or low risk. Graphical Abstract Prenatal Risk Assessment of Trisomy-21 and Neural Tube Defects.
Prenatal diagnosis is essential in the new era of diagnosis and management of genetic diseases in obstetrics. Multiple ligation-dependent probe amplification (MLPA) is a recent technique for prenatal diagnosis for the relative quantification of 40 different nucleic acid sequences in one single reaction. We had utilized the MLPA technique in detecting aneuploidies in amniotic fluid samples from 25 pregnant women from the Obstetrics and Gynaecology Department UKMMC, versus the quantitative fluorescent polymerase chain reaction (QF-PCR) method. Conclusive results were obtained in 18 cases and all were concordant with that of the QF-PCR. All four cases of trisomies were correctly identified including one case with maternal cell contamination.