Submicroscopic copy‐number variations (CNVs) in early pregnancy loss . It is difficult to think , diagnose, and treat copy no variations

 Submicroscopic copy‐number variations (CNVs) in early pregnancy loss . It is difficult to think in that way and prove and treat it . Couple and relatives even neighbors accuse doctor for “Early pregancy loss”: They feel it is the doctors ignorance on a given case of miscarraige: Miscarriage in cases of much wanted pregancy is a curse to the couple and family members as well. Unfortunately, as members are aware that in many cases the cause of spont abortion remains unclear. The concerned physician is sometimes accused; This blame on doctor is more pronounced in cases of abortion following ART procedures where hopes were sky high.

 

But question is have we improved our knowledge on etilogy in past three decades so that an acceptable remedy or at least an explanation becomes acceptable to couple? Do we have any new informations on miscarriage may be we don’t  have remedy or drugs to control that abnormality leading to abortion.

 

submicroscopic copy‐number variations (CNVs) in early pregnancy loss Our hands are tied: We just can’t help the couple: From last five decades we knew that embryonic numerical and structural chromosomal abnormalities are the most common cause of early pregnancy loss. Embryonic or parental 1) chromosomal abnormalities,2)  infectious disorders 3) autoimmune diseases 4)  sperm quality, 5) antiphospholipid syndrome, 6) uterine anomalies,7)  thrombophilias,8)  endocrine disorders, 9)  lifestyle issues and above all 10)  endometritis 11) endometriosis  are all considered potential causes of miscarriage. Early pregnancy loss, or miscarriage, is the most frequent complication in first‐trimester pregnancy, occurring in 10–15% of all clinically recognized pregnancies. But what worries the practicing obstetrician is that  embryonic numerical and structural chromosomal abnormalities are the most common cause, accounting for more than 50% of miscarriages.  Our hands are tied in such cases except being depressed for couple of hours.

 

 

Ray of hope!!!! But what do we mean by “Copy number Variations”? What is role in spont early abortions??Ans  :CNV = Copy-number variations ,.The role / prevalence in causation of  submicroscopic copy‐number variations (CNVs) in early pregnancy loss is still unclear, and little is known about the critical regions and candidate genes for miscarriage, because of the large size of structural chromosomal abnormalities. However the potential miscarriage‐associated submicroscopic CNVs and critical regions of large CNVs as well as candidate genes for miscarriage have been assessed in last two decades by many researchers across te globe,. Clinically significant chromosomal abnormalities were identified in 59.1%

How many members believe that   QF- PCR technology applied in POC will help the couple in future pregancy?? Do we have drugs to prevent such “COPY NUMBER VARIATIONS”??  

QF- PCR technology is in vogue for last 3 decades and such a technology has an important role to study CNVs in the  fresh miscarriage specimens .by using quantitative fluorescent polymerase chain reaction/CNV sequencing or chromosomal microarray analysis. It is known that embryonic major chromosomal abnormalities are the most common cause of miscarriage. Our results demonstrate the role of copy‐number variations (CNVs) in the etiology of miscarriage.

 IN search of a geneticist who can highlight our queries on Abnornal genes or variety of mutation disorders, The coupe is prepared to pay more so if such an even can be corrected by a kind hearted geneticist with reasonable accuracy. What do we mean by “next‐generation sequencing (NGS)” ?? Ans;-, With the wide application of high‐resolution molecular techniques, including chromosomal microarray analysis (CMA) and next‐generation sequencing (NGS), submicroscopic copy‐number variations (CNVs) have been recognized to be associated with a wide range of human diseases, including congenital anomalies and neurodevelopmental disorders

 

In recent years, submicroscopic CNVs have also been observed in cases of miscarriage.  Besides, although large CNVs are known to cause miscarriage, there are few reports of the specific regions critical for miscarriage and miscarriage candidate genes in CNV regions.

The incidence and distribution of chromosomal abnormalities detected by CMA and the NGS‐based method, CNV sequencing (CNV‐seq), The potential miscarriage‐associated submicroscopic CNVs and critical regions of large CNVs is possible.. It is now possible to identify potential miscarriage candidate genes from critical regions of miscarriage‐associated CNVs using gene‐prioritization analysis