Structural chromosomal abnormalities in couples with recurrent abortion in Egypt
To evaluate the incidence of chromosomal abnormalities in couples who experience recurrent abortion and identify additional factors that may be predictive of abortion, such as parental age and unfavorable obstetric or abnormal semen analysis. Materials and methods: The present study examined 125 couples who had experienced recurrent abortion. All subjects provided a detailed personal medical history and ancestral history and underwent a physical examination. Women in the study group underwent biochemical testing and pelvic ultrasound examinations, and men underwent a semen analysis. Results: Among the 125 couples tested, 8 couples (6.4%) displayed a balanced translocation, among which 7 (5.6%) showed a reciprocal translocation and 1 (0.8%) showed a Robertsonian translocation. All carriers of these translocations were aged < 35 years. A significant proportion of carriers reported a poor obstetric history and a past fetal malformation. All male carriers had a normal semen analysis. Conclusion: Couples who experience => 2 pregnancy losses of unknown origin should undergo a cytogenetic analysis, and findings showing a chromosomal abnormality in either parent must be followed by genetic counseling.
Structural chromosomal abnormalities in couples with recurrent abortion in Egypt
To evaluate the incidence of chromosomal abnormalities in couples who experience recurrent abortion and identify additional factors that may be predictive of abortion, such as parental age and unfavorable obstetric or abnormal semen analysis. Materials and methods: The present study examined 125 couples who had experienced recurrent abortion. All subjects provided a detailed personal medical history and ancestral history and underwent a physical examination. Women in the study group underwent biochemical testing and pelvic ultrasound examinations, and men underwent a semen analysis. Results: Among the 125 couples tested, 8 couples (6.4%) displayed a balanced translocation, among which 7 (5.6%) showed a reciprocal translocation and 1 (0.8%) showed a Robertsonian translocation. All carriers of these translocations were aged < 35 years. A significant proportion of carriers reported a poor obstetric history and a past fetal malformation. All male carriers had a normal semen analysis. Conclusion: Couples who experience => 2 pregnancy losses of unknown origin should undergo a cytogenetic analysis, and findings showing a chromosomal abnormality in either parent must be followed by genetic counseling.
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- Stephenson M, Kutteh W. Evaluation and management of recurrent early pregnancy loss. Clin Obstet Gynecol 2007; 50: 132–145.
- Jauniaux E, Farquharson RG, Christiansen OB. Evidence- based guidelines for the investigation and medical treatment of recurrent miscarriage. Hum Reprod 2006; 21: 2216– 2222.
- Speroff L, Fritz MA. Clinical Gynecologic Endocrinology and Infertility. 7th ed. Philadelphia, PA, USA: Lippincott Williams & Wilkins; 2005.
- Firoozabadi RD, Klantar SM, Seyed-Hasani SM, Ghasemi N, Asgharnia M, Sheikhha MH. Cytogenetic analysis in couples with recurrent spontaneous abortion. Iranian Journal of Reproductive Medicine 2006; 4: 13–17.
- Nussbaum R, McInnes R, Willard H, Boerkoei C. Principles of clinical cytogenetics. In: Nussbaum R, McInnes RR, Willard HF, editors. Thompson & Thompson Genetics in Medicine. 6th ed. Philadelphia, PA, USA: Saunders; 2004. pp. 135–154.
- Driscoll DA, Gross S. Prenatal screening for aneuploidy. N Engl J Med 2009; 360: 2556–2562.
- Gadow EC, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T. Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. Am J Med Genet 1991; 41: 279–281.
- Gardner RM, Sutherland GR, Shaffer LG. Chromosome Abnormalities and Genetic Counseling. Cambridge, UK: Cambridge University Press; 2004.
- Franssen MT, Korevaar JC, Leschot NJ, Bossuyt PM, Knegt AC, Gerssen-Schoorl KB, Hansson KBM, Hochstenbach R, Madan K, Veen VDF et al. Selective chromosome analysis in couples with two or more miscarriages: case-control study. BMJ 2005; 331: 137–141.
- Carp H, Feldman B, Oelsner G, Schiff E. Parental karyotype and subsequent live births in recurrent miscarriage. Fertil Steril 2004; 81: 1296–1301.
- Al-Hussain M, Al-Nuaim L, Abu Talib Z, Zaki OK. Cytogenetic study in cases with recurrent abortion in Saudi Arabia. Ann Saudi Med 2000; 20: 233–236.
- Goud TM, Harassi A, Mohammed S, Salmani A, Khalfan K, Al Busaidy SM, Rajab A. Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman. Reprod Biomed Online 2009; 18: 424–429.
- Boue A, Boue J, Gropp A. Cytogenetics of pregnancy wastage. Adv Hum Genet 1985; 14: 1–57.
- Butler MG, Hamill T. Blood specimens from patients referred for cytogenetic analysis: Vanderbilt University experience from 1985 to 1992. Southern Med J 1995; 88: 309–314.
- Tharapel AT, Tharapel SA, Bannerman RM. Recurrent pregnancy losses and parental chromosome abnormalities: a review. Br J Obstet Gynaecol 1985; 92: 899–914.
- Dubey S, Chowdhury M, Prahlad B, Kumar V, Mathur R, Hamilton S, Kabra M, Menon PSN, Verma IC. Cytogenetic causes for recurrent spontaneous abortions-An experience of 742 couples (1484 cases). Ind J Hum Genet 2005; 11: 94.
- De Braekeleer M, Dao TN. Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum Reprod 1990; 5: 519–528.
- Harton GL, Tempest HG. Chromosomal disorders and male infertility. Asian J Androl 2012; 14: 32–39.
- Sugiura-Ogasawara M, Ozaki Y, Sato T, Suzumori N, Suzumori K. Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertil Steril 2004; 81: 367– 373.