• Corpus ID: 57892542

Genetics of Recurrent and Spontaneous Miscarriage

@article{Gupta2017GeneticsOR,
  title={Genetics of Recurrent and Spontaneous Miscarriage},
  author={Arka Dutta Gupta and Akash Baid},
  journal={Research and reviews: journal of medical and health sciences},
  year={2017},
  volume={6},
  pages={1-8}
}
  • A. Gupta, A. Baid
  • Published 2017
  • Medicine
  • Research and reviews: journal of medical and health sciences
The aim was to find out the genetic basis of recurrent spontaneous abortion (RSA) from the past pregnancies and ensure a more favourable outcome in the current or future pregnancy. Pregnancy loss has always been a devastating experience for the mothers and the clinician of concern. One out of four pregnancies ends in miscarriage. It is estimated that 50-60% of all first trimester pregnancy losses are the cause of chromosomal abnormality. 8 couples were selected with the history of Recurrent… 
1 Citations

Figures and Tables from this paper

Cytogenetic investigation of couples with recurrent spontaneous miscarriages
TLDR
In the recent study possible chromosomal abnormalities suggested the evaluation of the patient with the history of recurrent spontaneous miscarriage must include conventional cytogenetic, which can ease the prognosis among pregnancy related complication.

References

SHOWING 1-10 OF 49 REFERENCES
Novel balanced chromosomal translocations in females with recurrent spontaneous abortions: Two case studies
TLDR
Two couples with a history of recurrent pregnancy losses were referred to the Institute of Genetic Medicine and Genomic Science for cytogenetic evaluation to investigate whether there are any new chromosomal abnormalities present in either of the couples caused recurrentregnancy losses.
Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report
TLDR
An unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions is reported, which induced such pregnancy complications.
Cytogenetic causes for recurrent spontaneous abortions - An experience of 742 couples (1484 cases)
TLDR
Chromosomal analysis is an important etiological investigation in couples with repeated spontaneous abortions as it helps in genetic counseling and deciding about further reproductive options.
Karyotyping and counseling in bad obstetric history and infertility
TLDR
A referral center for karyotyping and counseling to the couples as well as to the individuals referred with bad obstetric history and infertility, Division of Human Genetics referred for chromosomal analysis found chromosomal abnormality in 56 couples and 12 male partners.
Chromosomes Abnormalities Among Recurrent Spontaneous Abortions Cases
TLDR
It was extrapolated that repeated pregnancy loss has was very common with abnormality in the 22p(stk+) in male, and the prevalence of chromosomal abnormalities among couples with repeated abortion cases was assessed.
Cytogenetic Analysis and Thrombophilia-Associated Gene Mutations of Couples with Recurrent Miscarriage
TLDR
Male/female in patients with an inherited thrombophilia tested four types of changes, including; MTHFR C677T/1298, FV Leiden G1691A and prothrombin G20210A, and 152 men and woman did not carry any mutation.
Elective Termination Decision in Sex Chromosomal Abnormalities-Current Situation in Decision Making Process
TLDR
The ratio of terminated pregnancies with Turner syndrome was similar to that reported in European countries, but all the pregnancies with Klinefelter syndrome chose termination, which showed a regional difference in Turkey.
A New Female Case with 47,XXY Karyotype and SRY
TLDR
This is a new distinct female case with 47,XXY in spite of the presence of a Y chromosome and the normal SRY, but the deletion of AZF region on the long arm of chromosome Y.
Late Presentation of a Disorder of Sexual Development Due to Rare46XX/47XX SRY-Positive 46XX/47XX Karyotype
TLDR
This is the first reported case with SRY 46XX/47XX, although the somatic changes were not different from the rest of the genetic mutation, which necessitates meticulous assessment in early infancy, and genetic screening whenever the authors suspect this condition.
Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences
TLDR
Interestingly all the carriers of [rob t(13;14)] showed abnormal clinical features: like soft sub-mucous cleft palate with DS in case-1 child,Soft sub-Mucous Cleft palate and Inter Chromosomal Effect (ICE) in Case-1 father, miscarriage and birth of children with congenital problem in cases-2 mother and gross developmental delay in case -2 child.
...
...