The role of maternal serum screening test in the detection of chromosome abnormalities: Report of 3618 amniocentesis

سال انتشار: 1393
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 788

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شناسه ملی سند علمی:

CIGS13_0726

تاریخ نمایه سازی: 7 بهمن 1393

چکیده مقاله:

Chromosome investigation using amniotic fluid is a gold standard technique in prenatal diagnosis. This technique is of particular importance following the detection of high risk pregnancies ascertained by abnormal maternal serum screening test. A total number of 3618 women were referred to the Cytogenetics laboratory of Sarem Women’s Hospital between 2006-2014. The referral reasons were abnormal maternal serum screening test(68.02%), raised maternal age(18.57%),abnormal sonography (3.53%), family history of abnormal child (6.93%) and the other reasons including abortions, anxietyand exposure to teratogens (2.92%).Three cultures were set up and processed using standard GTG banding technique.The total chromosome abnormality rate was 5.99%. The rate of chromosome abnormality in each of the referral category is as follows: 5.07% for abnormal maternal serum screening test, 5.8% for raised maternal age, 7.03% for abnormal sonography, 8.5% for family history of abnormal child, 8.5% for other reasons.The abnormal maternal serum screening referral reason had the highest rate in referral categories being 68.02%.The rate of different chromosome abnormalities in this referral group is as follows: The aneuplidy rate was 83.47%, where trisomy 21 was the most common. 16.53% hadstructural abnormalities. In addition, 1.21% of fetuses had pericentric inversion of chromosome 9 which was considered as a normal population variant. The chromosome abnormality rate is similar to other reports from Iran. However, chromosome investigation for cases referred for abnormal maternal serum screening test is highlighted in our study.

کلیدواژه ها:

Prenatal diagnosis ، Amniotic fluid ، Chromosome abnormality ، Maternal serum screening test

نویسندگان

Farkhondeh Behjati

Departement of Medical Genetics and Sarem Cell Reaserch Center (SCRC) , Sarem Womens Hospital ,Tehran, Iran Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

Eiman Bagherizadeh

Departement of Medical Genetics and Sarem Cell Reaserch Center (SCRC) , Sarem Womens Hospital ,Tehran, Iran

Fahimeh Mousavi

Departement of Medical Genetics and Sarem Cell Reaserch Center (SCRC) , Sarem Womens Hospital ,Tehran, Iran

Nasrin Mohammadkhani

Departement of Medical Genetics and Sarem Cell Reaserch Center (SCRC) , Sarem Womens Hospital ,Tehran, Iran