Invited editorial – A perspective

It gives me immense pleasure to write this Editorial for the Wadia Journal of Women and Child Health, a publication from Wadia Hospitals, Mumbai. The theme of this issue is on Clinical Genetics, wherein significant developments have occurred over the years, more so in the last year. I congratulate the Editors and Authors for this impactful selection.

Genetics saw a number of new advances, like Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR) techniques, whole exome and whole genomic sequencing on one side, and precision clinical medicine on the other side. The present issue deals with some of these problems as well as social and societal scenarios.

Two articles to highlight are the one on Triple X syndrome and Differences of Sex Development (DSD). Shah et al.^[1] describe cases of Triple X syndrome, stating that they may not be diagnosed easily, with patients having mild neurodevelopmental anomalies, and a high index of clinical suspicion is necessary. Ranganath has given the picture of DSD, which may not include triple X.^[2] DSD commonly includes 45,X (Turner syndrome) and variants [e.g., mosaic Turner syndrome (45,X/46,XX), ring chromosome X – 46,Xr(X), and isochromosome Xq – 46,Xi(Xq)], 47,XXY (Klinefelter syndrome) and variants (e.g., 48,XXXY), 45,X/46,XY (mixed gonadal dysgenesis), 46,XX/46,XY or 46,XX/47,XXY presenting as atypical genitalia, hypogonadism, and other symptoms.

Non-Invasive Prenatal Testing and sex chromosomal anomalies are stressed by Kadam et al.^[3] in this issue.

Sait et al.^[4] have described caregivers’ perspectives and their importance in diagnosis, management, and counseling in Down syndrome cases. It is interesting to read the article by Hema Purandarey, highlighting the genetic counseling aspects.^[5] It is not surprising that there are just about 10250 counselors in the world.

On the backdrop of these articles, one issue surfaces as to the role of the mother. I wish to highlight the role of nutrigenomics in mother and child, the science involving the study of how different foods interact with genes to increase or decrease the risk of diseases. It addresses how diet can affect gene transcription, protein expression, and metabolism. Diet plays an immense role before, during, and after pregnancy. The concept of 1000 days is crucial in the life of a child, and inadequate nutrition during this phase is the seat of chronic diseases during adulthood. 1000 days include 270 days from conception to birth, 365 days of 1^st year, and 365 days of the 2^nd year. The relevance of 1000 days has been stressed by the Government of India in national programs on women and children..

2–3% of live births have major congenital anomalies. Periconceptional use of 400 µg of folic acid in the mother prevents/reduces the occurrence of birth defects, mainly neural tube defects (such as spina bifida, meningomyelocele, anencephaly by 70%), orofacial clefts (hare lip, cleft palate), congenital heart defects (40–50%), limb reduction malformations, and urinary tract defects.