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Sara Masihi, Mojgan Barati, Javad Marfu, Zahra Eskandari,
Volume 10, Issue 6 (4-2012)

Background: Central nervous system malformations are the second most common congenital malformations after congenital heart diseases. These malformations are associated with many instances of morbidity and mortality which underline the importance of prevention and their early diagnosis. Objective: The objective of this study is the diagnosis of neural tube defect (NTDs) in the first trimester and its comparison to second trimester diagnoses in order to reduce the complications associated with late pregnancy terminations and its costs.
Materials and Methods: This study was a trans-sectional study. A total number of 1074 patients who referred to Imam Khomeini Hospital were enrolled in this study. During the 11th-13th (+6 days) gestational week the patients were screened sonographically; subsequently they were re-scanned for fetal anomalies during 18th-20th gestational week, and we followed the babies after birth. Considering that Intracranial Translucency (IT) was introduced in the newer researches, it was, too, measured in 125 of the cases.
Results: In a total number of 1074 patients we had one patient with an anencephalous fetus whom was diagnosed in the first trimester of pregnancy. In the second trimester, we detected one case of myelomenigocele; when we referred to this patient’s first trimester sonography, there was no visible IT. In the 125 cases in whom the IT length was measured, it was normal; the 2nd trimester sonographies in these patients were also normal.
Conclusion: It must be noted that the diagnosis of NTD is more accurate in the second trimester of pregnancy. Consequently it is recommended that in high risk patients, the second trimester sonography be performed transvaginally, and in an earlier gestational age (14th-16th gestational weeks).
Sara Masihi, Mojgan Barati, Razieh Mohamadjafari, Marzieh Hashemi,
Volume 12, Issue 5 (6-2014)

Background: Fetal nasal bone assessment is a non-invasive procedure that helps provide even greater assurance to patients undergoing their first trimester risk assessment for aneuploidies. Absence or presence of this factor is different in some races.
Objective: The study was aimed to evaluate nasal bone in the first trimester of pregnancy in the indigenous population of Khuzestan Province, and to monitor its value in the diagnosis of chromosomal abnormalities.
Materials and Methods: This study was conducted on 2314 pregnant women between 17-43 years old who referred for first trimester screening for chromosomal abnormalities. Gestational age was between 11-13w + 6 days. Nuchal translucency (NT), fetal heart rate (FHR), crown rump length (CRL), and maternal age and maternal blood serum factors (Free βHCG) and pregnancy-associated plasma protein-A (PAPP-A) and nasal bone were assessed. Finally the risk of trisomies was calculated. The statistical tests are based on the relationship between chromosomal abnormality and the presence or absence of the nasal bone.
Results: In 114 cases we could not examine the nasal bone. Also, in 20 cases missed abortion happened without knowing the karyotype. 2173 cases were delivered normal baby, and in seven cases chromosomal abnormalities were diagnosed. Nasal bone was absent in all three cases with trisomy 21 and six of 2173 cases with normal phenotype (0.3%). With use of the Fisher exact test (p=0.0001), a significant correlation was found between the absence of the nasal bone and the risk of chromosomal abnormality.
Conclusion: Inclusion of the nasal bone in first-trimester combined screening for aneuploidies achieves greater detection rate especially in Down syndrome

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