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Davood zare-Abdollahi, Ph.D

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1 Davood zare-Abdollahi, Ph.D
Cytogenetic evaluation of he couples with Recurrent Pregnancy losses (RPL) Davood zare-Abdollahi, Ph.D

2 This risk increases in older women (greater than 40 year) up to 50%
Recurrent pregnancy loss (RPL) is a distinctive entity defined by two or more failed clinically recognized pregnancies. It is estimated that fewer than 5% of woman will experience two consecutive miscarriages and only 1% experience three or more. In the face of RPL, a genetic counselor should have this in mind that spontaneous pregnancy loss is common; occurring in approximately 15% of clinically diagnosed pregnancies . This risk increases in older women (greater than 40 year) up to 50% only 30% of all conceptions result in a live birth. Balanced reciprocal translocation and Robertsonian translocation are observed in about 2-5% of couples with recurrent miscarriage and this is the logic of doing karyotype In the face RPL etiology. Recurrent pregnancy loss: etiology, diagnosis, and therapy, Rev Obstet Gynecol Spring;2(2):76-83.

3 Cryptic subtelomeric anomalies is well established as a significant cause of idiopathic intellectual disability (ID) and/or multiple congenital anomalies (MCA) with normal reported karyotype. Chromosomal rearrangements, invisible by routine conventional karyotyping, can occur between the subtelomeric  and/or telomeric region in clinically normal individuals with balanced chromosome rearrangements. Recently some publications reported on the subtelomeric /telomeric chromosomal rearrangements in families with concomitant occurrence of ID/MCA and MM. Subtelomeric rearrangements in patients with idiopathic intellectual disabilitiy/ multiple congenital anomalies and recurrent miscarriages: seven years' experience, Genet Couns, 2013;24(2):167-77 Recurrent pregnancy loss: evaluation and treatment, Obstet Gynecol Clin North Am Mar;42(1):117-34

4 Check if there is evidence about the product of conception (POC)
It is highly recommended that if possible we relied on clinical pregnancy documented by ultrasonography or histopathological examination rather than self-reported and considering clinical threshold of two or more consecutive first-trimester pregnancy losses. Check if there is evidence about the product of conception (POC) Chromosomal analysis (karyotype or chromosomal microarray) Pathological evaluation (multiple malformation or any other signs in favor of genetics roles) Couple chromosomal analysis combined with pedigree evaluation and taking in to account if there is any affected individual with ID and/or MCA, is the first step in the RPL diagnostic work-up. In his regard it is appropriate to offer subtelomeric fISH analysis to rule out segregation of possible crypic telomeric/ subtelomeric chromosomal rearrangements, if karyotyping report was normal . Novel strategies for the management of recurrent pregnancy loss, Semin Reprod Med May;33(3):161-8 Evaluation and treatment of recurrent pregnancy loss: a committee opinion, Fertil Steril Nov;98(5):


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