Vitamin D supplementation reduces risk of maternal comorbidities and helps improve neonatal outcomes.

No abstract

Background & objectives : Down syndrome (DS) is one of the most common causes of developmental delay. In India, there is no protocol for prenatal screening of DS. Second-trimester biochemical screening is still being done by triple test. Quadruple test is with better sensitivity and specificity but is not advised routinely. So, the objective of this study was to evaluate the sensitivity and accuracy of the second-trimester screening (quadruple test with genetic sonogram) for trisomy 21 as compared to biochemical testing. Methods : This retrospective observational study was carried out in a Fetal Medicine Centre to analyze the odds of being affected with DS, given a positive risk (OAPR) upon screening in the quadruple test; triple test and quadruple test plus a genetic sonogram for high-risk singleton pregnancies (in view of advanced maternal age; an anomaly scan showing some abnormality, etc ). Results : 3175 high-risk singleton pregnancies were screened for trisomy 21. 394 women underwent amniocentesis on the basis of triple test, quadruple test or quadruple plus genetic sonogram positive. 17 foetuses were diagnosed to have DS. The quadruple test was found to have a higher OAPR as compared to the triple test (1:30.1 as compared to 1: 40.2). Quadruple test plus the genetic sonogram was found to have the highest OAPR of 1:6. Interpretation & conclusions : Best screening for trisomy 21 is provided with quadruple test with genetic sonogram which can lower the rates of unnecessary amniocentesis in high-risk population.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease with a prevalence rate of 1 in 125,000-170,000. BBS can occur as a result of mutation in one of the 19 known genes of the BBS gene complex. The syndrome is mostly diagnosed post-natally based on the structural and functional manifestations of the disease in childhood like short stature, obesity, polydactyly or syndactyly, retinal dystrophy, structural renal abnormalities, neurodevelopment delays, mental retardation, diabetes mellitus. We present a case of Bardet-Biedl syndrome diagnosed prenatally at 18 weeks gestation based on prenatal ultrasound findings of post axial polydactyly with bilateral hyperechogenic kidneys. Clinical suspicion based on ultrasound findings was supplemented amniocentesis and clinical exome sequencing. This showed a pathogenic variant in homozygous state in the MKKS gene, consistent with Bardet-Biedl syndrome type 6. Unless BBS has been suspected antenatally, diagnosis of BBS is usually made in late childhood or early adulthood adding to the psychological, emotional and financial burden on the family. With advances in prenatal ultrasound techniques and tremendous improvement in genetic diagnosis of suspicious findings on ultrasonography, diagnosis of rare genetic disorders like BBS is now possible as early as the 18-20 weeks scan. This can aid in appropriate counseling of the family and timely intervention in children born with this condition.