genetic causes of Rec Preg losses.

 

Geneticist can rescue and restore your name and fame in RPL to great extent. What they do is to collect the  fresh miscarriage specimens and use quantitative fluorescent polymerase chain reaction/CNV sequencing or chromosomal microarray analysis. This can hopefully inform us about the possible case of miscarriage

Ans: RPL and genetic causes are to be established from freshly collected products of conception.  Embryonic numerical and structural chromosomal abnormalities are the most common cause of early pregnancy loss. However, the role of submicroscopic copy‐number variations (CNVs) in early pregnancy loss is unclear, and little is known about the critical regions and candidate genes for miscarriage, because of the large size of structural chromosomal abnormalities. The aim of this study was to identify potential miscarriage‐associated submicroscopic CNVs and critical regions of large CNVs as well as candidate genes for miscarriage.

This is done from fresh miscarriage specimens which are investigated using quantitative fluorescent polymerase chain reaction/CNV sequencing or chromosomal microarray analysis. Statistically significant submicroscopic CNVs were identified by comparing the frequency of recurrent submicroscopic. Furthermore, genes within critical regions of miscarriage‐associated CNVs were prioritized by integrating the Residual Variation Intolerance Score and the human gene expression dataset for identification of potential miscarriage candidate genes.

How to identify miscarriage candidate genes?

Ans: To identify miscarriage candidate genes, a gene‐prioritization process by integrating genes in critical regions of miscarriage‐associated CNVs with RVIS percentiles and the human gene expression dataset. CMA and QF‐PCR/CNV‐seq to investigate the incidence and distribution of chromosomal abnormalities in a large cohort of miscarriage cases. Based on these results, miscarriage‐associated submicroscopic CNVs and critical regions of miscarriage‐associated large CNVs. One can also identify potential miscarriage candidate genes from recurrent miscarriage‐associated CNVs through gene prioritization analysis. Overall, the frequency of pathogenic chromosomal abnormalities will be somewhere 60% the majority (98%) of which were > 10 Mb and should theoretically is detectable by traditional cytogenetic analysis.. Both the frequency of pathogenic chromosomal abnormalities and that of VOUS were consistent with findings of previous studies.

Although the role of submicroscopic CNVs has been well studied in patients with structural anomalies and neurodevelopmental disorders it is still unclear whether these abnormalities contribute to miscarriage. In most studies   submicroscopic pathogenic CNVs were observed at a frequency of 1.0% ,