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The science of human genetics has advanced at an exponential pace since the double-helix structure of DNA was identified in 1953. Within only 25 years of that discovery, the first gene was sequenced. Subsequent efforts in the span of a few decades have brought advanced next-generation sequencing and new tools for genome editing, allowing scientists to write and rewrite the code of life. We are now realizing that genetics represents yet another system of information technology that follows Moore’s law, stating that computer processing power roughly doubles every two years. Importantly, with such rapid and sophisticated advancements, any tools or studies applicable to adult genetics can now also be applied to embryos.Genetic disorders affect 1% of live births and are responsible for 20% of pediatric hospitalizations and 20% of infant mortality. Many disorders are caused by recessive or X-linked genetic mutations carried by 85% of humans. Because assisted reproduction has armed us with technologies like in vitro fertilization that provide access to human embryos, we began to screen some genetic diseases simply by selecting sex. The first live births following preimplantation genetic testing (PGT) to identify sex in X-linked disease were reported by Alan Handyside in 1990. This groundbreaking work used the identification of male embryos and selective transfer of unaffected normal or carrier females as proof-of-concept to avoid genetic diseases, paving the way to extend the concept to PGT for monogenic diseases (PGT-M), including Mendelian single-gene defects (autosomal dominant/recessive, X-linked dominant/recessive), severe childhood lethality or early-onset disease, cancer predisposition, and HLA typing for histocompatible cord-blood stem cells’ transplantation. Later, we moved onto the identification and selection of euploid embryos by analysing all 23 pairs of chromosomes in 4–8 cells from the trophectoderm, called PGT for aneuploidy (PGT-A). PGT-A currently leverages next-generation sequencing technologies to uncover meiotic- and mitotic-origin aneuploidies affecting whole chromosomes, as well as duplications/deletions of small chromosome regions. A step forward was the use of structural chromosome rearrangements (PGT-SR) to identify Robertsonian and reciprocal translocations, inversions, and balanced vs. unbalanced rearrangements. Another advancement came with PGT for polygenic risk scoring (PGT-P). This technique takes us from learning how to read simple words to starting to understand poetry (i.e., evolving from PGT-M/A/SR to PGT-P for multifactorial, polygenic risk prediction). Moreover, we are moving from embryo selection to intervention because the genetic code is not only readable, but also re-writeable. Indeed, gene editing is now possible using tools like CRISPR/Cas9, which are applicable to all species, including human embryos.
extracellular vesicles --- exosomes --- microvesicles --- apoptotic bodies --- DNA --- preimplantation embryos --- murine blastocysts --- embryo --- uterus --- window of implantation --- PGT-A --- PGT-SR --- mosaicism --- embryo genetics --- chromosomal abnormality --- preimplantation genetic testing --- PGT-P --- polygenic risk scoring --- genomic index --- relative risk reduction --- combined preimplantation genetic testing --- Preimplantation genetic testing for monogenic disorders (PGT-M) --- Preimplantation genetic testing for aneuploidy assessment (PGT-A) --- Autosomal dominant polycystic kidney disease (ADPKD) --- male infertility --- advanced maternal age --- aneuploidy --- NGS --- segmental --- translocations --- monogenic disease --- multiplex PCR --- SNP array --- genome editing --- genetic diseases --- embryos --- vitrification --- ovarian response --- female age --- genetic testing --- reproductive health --- next-generation sequencing --- whole exome sequencing --- perinatal care --- infertility --- aneuploidies --- polygenic disease --- blastocyst --- endometrium --- implantation
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Breastfeeding is the preferred method of feeding in early life. It is also one of the most cost-effective childhood survival interventions. Breastfeeding practices are important for preventing child mortality and morbidity, as well as ensuring the optimal growth, health, and development of infants. The public health benefits of breastfeeding have been well documented in the medical literature, and include the following: associations with decreased risk for early-life diseases such as otitis media, respiratory tract infection, diarrhoea, and early childhood obesity (to name but a few). This Special Issue book includes a collection of studies on the use of novel methods to improve breastfeeding rates, and research exploring the short- and long-term benefits of breastfeeding for both the infant and mother, including technology-based approaches.
practice --- milk bank --- galactagogues --- infant --- twins --- children --- perinatal --- circadian rhythm --- lactoferrin --- Aboriginal --- lipidome --- infant crying --- AA --- risk factors --- infants --- EPIC --- pregnancy --- Africa --- ECOWAS --- involution --- cortisol --- educational status --- low milk supply --- lactating mammary gland --- milk flow --- DHA --- EWAS --- breast feeding --- pregnancy outcomes --- NTR --- premature birth --- omega-3 --- DNA methylation --- LC-PUFA --- omega-6 --- culturally and linguistically diverse (CALD) --- vitamin A --- human milk carbohydrates --- childhood --- milk intake --- neonate --- fenugreek --- United Arab Emirates --- prognosis --- sensitivity and specificity --- weaning --- breastfeeding frequency --- birth cohort --- maternal behavior --- temperament --- multiple pregnancy --- mortality --- breastfeeding --- Australia --- hospitalizations --- cortisone --- maternal age --- oligosaccharides --- milk composition --- initiation of breastfeeding --- preterm infant --- antenatal care --- infant mortality --- body composition --- growth trajectory --- maternal protein restriction --- self-efficacy --- infections --- gestational age --- exclusive breastfeeding --- daily intake --- ALSPAC --- maternal stress --- retinoic acid --- breast milk metabolome --- lactation --- antibiotic use --- free amino acid --- maternal anxiety --- early life nutrition --- child nutrition --- parity --- human milk --- lactose --- litter size --- caesarean section --- skin-to-skin --- prolonged lactation --- vitamin A deficiency --- fatty acids --- plasma metabolic parameters --- breast milk --- growth --- glycome --- caries
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