The Reproductive Journey in the Genomic Era: From Preconception to Childhood
Abstract
:1. Introduction
2. The Reproductive Journey
2.1. First Stage: Pre-Conceptional Care
- An evaluation of the overall well-being
- Medical history
- Surgical history
- Social and behavioral history
- Medication
- Occupational and education risks
2.2. Second Stage: Pre-Implantation Diagnosis
- Multiplex PCR (Polymerase Chain Reaction): Multiplex PCR uses targeted primers designed specifically for the mutation of interest combined with other markers for linked short tandem repeat (STR) markers.
- Whole-genome amplification (WGA).
- Karyomapping: High-density SNP (Single Nucleotide Polymorphism) array that allows evaluation of DNA haplotypes).
- Sanger sequencing.
- Multiplex Ligation-dependent Probe Amplification (MLPA) [4].
2.3. Third Stage: Prenatal Diagnostis
- A variety of phenotypes.
- Multiple malformations.
- Congenital anomalies.
- Intellectual disabilities.
- Developmental delay.
- Epilepsy.
- Cerebral palsy.
- Neuropsychiatric disorders [23].
- Cell culture growth failure (the failure rate in POC samples cultured after curettage ranges between 5% and 42% [35]).
- Suboptimal chromosome preparations.
- Maternal cell contamination (MCC).
- Low-resolution limit that does not allow the detection of submicroscopic deletions and duplications that can cause miscarriages.
2.4. Fourth Step: Newborn Screening and Neonatal Care
3. Genomic Precision Diagnostic
4. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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Garcia-Herrero, S.; Simon, B.; Garcia-Planells, J. The Reproductive Journey in the Genomic Era: From Preconception to Childhood. Genes 2020, 11, 1521. https://doi.org/10.3390/genes11121521
Garcia-Herrero S, Simon B, Garcia-Planells J. The Reproductive Journey in the Genomic Era: From Preconception to Childhood. Genes. 2020; 11(12):1521. https://doi.org/10.3390/genes11121521
Chicago/Turabian StyleGarcia-Herrero, Sandra, Blanca Simon, and Javier Garcia-Planells. 2020. "The Reproductive Journey in the Genomic Era: From Preconception to Childhood" Genes 11, no. 12: 1521. https://doi.org/10.3390/genes11121521