Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.

Newborn screening (NBS) aims toward early detection of treatable congenital disorders. From January 2008 through December 2017, 13,376 newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency at Sir Ganga Ram Hospital, India, by measuring G6PD activity, thyroid-stimulating hormone, and 17-hydroxyprogesterone on dried blood specimens. The birth prevalence of 1:2,000 for CH, 1:2,500 for CAH, and 1:125 for G6PD deficiency indicates the latter as the most prevalent.

MoM cutoffs for variables, an important tool for multivariate analysis and accurate interpretation of preeclampsia risk in high-risk pregnancy at 11-13 weeks gestation.

Objective: To determine the diagnostic accuracy of preeclampsia (PE) screening test offered in early pregnancy for the prediction of the risks for early-onset (requiring delivery <32 weeks gestation) and late-onset (requiring delivery ≥32 weeks gestation) disease.

Methods: In a retrospective study of 615 women with singleton pregnancy, the risk for PE was calculated by the combined effect of multiple variables: serum placental growth factor (PLGF) and pregnancy-associated plasma protein-A (PAPP-A), maternal age, parity, ethnicity, mean arterial pressure (MAP), body mass index (BMI), uterine artery-pulsatility index, and previous history of PE or hypertension (HT). The results of the screening test in three different groups of women were validated by pregnancy outcome: (i) control group - without any history of PE/HT; (ii) history of PE without HT; and (iii) history of HT without PE.

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.

Objective: To offer accurate prenatal diagnosis of lysosomal storage disorders in early pregnancy.

Method: Prenatal enzymatic diagnoses of Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandoff, GM1, mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy and Batten diseases were made in uncultured chorionic villi samples by fluorometric/spectrophotometric methods.

Results: Of 331 prenatal enzymatic diagnosis, 207 fetuses (67%) were normal and 124 (37%) were affected.

Inherited metabolic disorders: Quality management for laboratory diagnosis.

Background: The advancements in laboratory technology and knowledge of the mechanisms behind metabolic disorders have facilitated accurate and reliable laboratory testing in screening, diagnosis and treatment of inherited metabolic disorders. Therefore, quality assurance and improvement in diagnostic proficiency have become essential in this area. In most developing countries, standard practices for quality assurance in testing of enzymes, hormones and metabolites involved in these genetic disorders have not been fully implemented.

Newborn screening: need of the hour in India.

After a review of the current health scene in India, the authors suggest that the Government of India should consider seriously, the introduction of new born screening. As a first step, a central advisory committee should be constituted to recommend what is required to be done to strengthen the infrastructure and the manpower to carry out new born screening, and the disorders to be screened. In the urban hospitals newborn screening (NBS) for three disorders can be easily introduced (congenital hypothyroidism, congenital adrenal hyperplasia and G-6-PD deficiency), while in the rural areas this should begin with congenital hypothyroidism, especially in the sub Himalayan areas.