Efficacy of prenatal biochemical markers in detecting chromosomal abnormalities

Congenital anomalies of newborns can cause significant psychological, social, and financial burdens on the family and society. Hence, screening techniques for the early diagnosis of chromosomal abnormalities assist pregnant women of all ages to make informed decisions.

The present study evaluated the efficacy of prenatal screening tests, such as the double marker test (β-hCG and PAPP-A) and USG scan (11-13 weeks), in assessing nuchal translucency and the presence or absence of nasal bone to get the following insights-

• A total of 729 pregnant women underwent double marker screening tests, of which 2.05% were in the high-risk category, and 97.9% were in the low-risk category. 
• 1.6% were detected with Down syndrome and 0.4% with Edward’s Syndrome. 
• Free β-hCG and PAPP-A showed a strong positive correlation, indicating that they tend to increase together. 
• Free β-hCG corr MoM and PAPP-A showed a positive correlation, suggesting that if one increases, the other follows. 
• Free β-hCG and free β-hCG corr MoM showed a positive correlation, suggesting that when free β-hCG values rise, free β-hCG corr MoM also increases in tandem. 
• Crown-rump length (CRL) and gestational age showed a correlation with significance.

The findings of this study underscore the effectiveness of prenatal diagnosis through ultrasound, either solely based on crown-rump length (CRL) or in combination with biochemical markers, in detecting chromosomal abnormalities. It highlights the importance of incorporating prenatal diagnosis for chromosomal anomalies as a fundamental component of antenatal care.

 Bhatiya A, Shah H, Vaishnav S. Correlation Of Prenatal Biochemical Marker With Nuchal Translucency And Nasal Bone In First Trimester. Indian Obstetrics and Gynecology. 2023;13(3)