Skip to main content

Conference Program

Subpage Hero

Loading

Unique Case Report of Very Low Mosaic Down Syndrome as case referred as a case of Recurrant Pregnancy Loss

Laboratory Genetics and Genomics
  • Primary Categories:
    • Laboratory Genetics
  • Secondary Categories:
    • Laboratory Genetics
Introduction
Recurrent pregnancy loss (RPL) is defined as the loss of two or more pregnancies. A pregnancy loss is defined as the spontaneous demise of a pregnancy before the fetus reaches viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. The exact prevalence of RPL is difficult to estimate, but most studies report that RPL affects 1–2% of women.

 

Case Presentation
32 year old Saudi female. Married for 8 years referred as case of recurrent spontaneous abortion. Total of 7 abortions. All occurred in the first trimester. No living children.

Husband is 36 year old Saudi. They are cousins.

Both have bachelor degrees and working. The wife is working as teacher and the husband is working in Petrolium company.

No family history of recurrant abortion.

O/E wife unremarkable

Husband tall others unremarkable



Diagnostic Workup
Chromosomal study from peripheral blood sample of the women (wife) showed one metaphase with three copies of chromosome 21. All other 19 metaphases were normal female karyotype.

Interphase FISH (fluorescent in situ hybridization) was performed using Locus Specific Probe for 21q22.13-q22.2 to look for gain/loss of chromosome 21. Of a total of 200 interphase nuclei examined, 6.5% of the cells showed 3 signals for chromosome 21. This is a very low level of mosaic trisomy 21.  Again this results have been confirmed with another fresh blood sample.

Chromosomal study from peripheral blood sample of the husband showed presence of one metaphase with extra X chromosome while other 19 metaphases were normal male karyotype.

FSH studies using probe for DXZ1 ( X centromere)  and SRY (Yp11.3) showed presence of 3 tyopes of clones: 

- 5.5% 2 signals for DXZ1 and 1 signal for SRY (47,XXY)

-4.5% 2 signals for DXZ1 and 2 signal for SRY (48,XXYY)

-90% 1 signal for DXZ1 and 1 signal for SRY (46,XY)

 

Treatment and Management
The women ( wife) is having very low mosaic Dawn Syndrome and the husband is having mosaic variant Klinfelter Syndrome.

We are diagnostic lab. So we just do the laboratory tests and refer the results to the referring physician.

Outcome and Follow-Up
They have trnsferrred to Specialist hospital for possibility of in-vetro fertalization???

Discussion
Both wife and husband having abnormal cytogenetics finding

Wife with very low mosaic Down Syndrome.

Husband with mosaic variant Klinfelter Syndrome.

 

Conclusion
Not to ignore any suspicious finding during karyotyping and to investigate any suspicious abnormality even when it is in a very low percentage.

Very low mosaic Down Syndrome is difficult to be suspected and diagnosed when comes in adult lacking all Down syndrome features.

It is very important to do cytogenetic test for both couples in cases of Recurrant pregnancy loss as might both of them having different abnormality causing the pregnancy loss.

 

Agenda

Sponsors