I am from India and have been TTC (trying to conceive) for last 5 years. I am 29 years old right now. My first miscarriage was when I was 24 years old. It was blighted ovum and was detected on first ultrasound at 8 weeks and d&c (dilatation and curettage) was done. 2nd miscarriage was one year later and same things happened and d&c was done. All investigations were done but nothing came up. After that i had trouble conceiving and conceived through IUI after 2 and half years. My periods were irregular and doctor told me i have PCOS but i again miscarried and it was blighted ovum on first ultrasound and d&c was done. I never bled through any of my miscarriages.
After that we were tested for genetic abnormality. My karyotype was normal but my husband’s karyotype showed 47XY+mar. An extra chromosome was marker chromosome with partial 15 chromosome characteristics. During genetic counselling we came to know that this chromosome is non pathogenic and harmless and is not the reason of miscarriages. So now i am confused what should be our next step? My RE wants to move on to donor. Thanks for reading. N. From India
Hello N. from India,
Since you have lost three pregnancies, you would be classified with the diagnosis “recurrent pregnancy loss”. There is a specific evaluation that is done for this, which includes the genetic testing you have done. Basically with an RPL evaluation we look at genetics, immunology, hormonal, anatomical and infectious causes for pregnancy loss. Your doctor will need to investigate each of these.
A blighted ovum means that the embryo did not develop. The most common reason is for an genetically abnormal embryo. I’m not sure I agree with your genetic counselor, as the male chromosome makes up half of the embryonic chromosome so it could certainly be causing ALL the embryos to be abnormal. In a recessive state, as in your husband, it may not cause any “pathologic disorder or illness”, but in the embryo where it makes up half of the chromosome, it could be deadly. Your options if this is the cause is (1) use donor sperm or (2) go to IVF and have genetic testing (PGS) done on the embryos prior to transfer. Hopefully, there will be a normal embryo present but if not, then you know that you will have to use donor sperm.
Edward J. Ramirez, MD FACOG