maryam mirsafaie

 This study aimed to investigate the relationship between maternal predisposing factors with the level of maternal serum pregnancy-associated plasma protein A and free subunit human chorionic gonadotropin and nuchal translucency.Materials and 

 We performed a cross-sectional-analytical study on 762 pregnant women who referred to the Gene Azma Medical Genetics Laboratory in Isfahan for amniocentesis. All pregnant women at high risk of screening in the first trimester of pregnancy for trisomy 21 and other aneuploidy were referred to a gynecologist for amniotic fluid sampling (amniocentesis). Multiple of the means (MoM) of PAPPA ≤0.5, 0.5 ≥ MoM free β-hCG >2.5, and NT ≥3.5 mm were considered abnormal. We used Chi-square method and Mann–Whitney U-test to compare data qualitative and quantitative, respectively.

 In individuals with less pregnancies and deliveries, the value of abnormal NT was higher (P < 0.01, P < 0.001, respectively). On the other hand, the highest abnormal rate of NT was observed in pregnant women under 35 years (21, 84%, P < 0.012). In addition, abnormal levels of free β-hCG are more common in women < 35 years of age (186, 66.9%, P < 0.02) and female fetuses (171, 58.8%) (P < 0.006).

 According to the results of this study, it can be said that considering the underlying factors of pregnant mothers in performing tests related to screening in the first trimester of pregnancy can lead to a reduction in false positive rates.

This study was designed and performed to investigate the relationship between fetal chromosome aberrations and screening markers in the first trimester of pregnancy in order to prevent the birth of infants with chromosome aberrations with early prenatal diagnosis.

We conducted an analytic cross‑sectional study on result of chromosomal culture of 762 pregnant women with high‑risk combined screening test from December 2018 to June 2020 and analyzed by SPSS program.

There was a significant relationship between chromosome structural abnormalities with free beta‑human chorionic gonadotropin (free β‑hCG) values equal to and higher than 1.5 multiples of the median (MoM) (P: 0.05). The highest incidence of disorder in number of chromosomes with abnormal nuchal translucency (NT) percentiles (≥99%) was seen (P < 0.001). It also shows that the cumulative number of chromosome aberrations of 25 (78.12%) occurred in individuals with a NT less than 99th percentile and at the same time a risk of 1/50≤ risk <1/10.

According to the results, Comparative Genomic Hybridization (CGH) array method is recommended to detect structural abnormalities in chromosomes in samples with NT ≥3.5. In addition, it is noteworthy that chromosomal structural abnormalities occur in free β‑hCG ≥1.5 MoM.

Due to the frequency of chromosomal structural disorders and its effect on the incidence of fetal abnormalities, the study of chromosomal structural disorders is recommended.

Prostaglandin I2 receptor plays a major physiologic role in the relaxation of arterial smooth muscle and vasodilation and possibly during migraine attacks. Therefore, in this study, the coding and noncoding exons and exon-intron boundaries of Prostaglandin I2 receptor gene were examined in patients with migraine headache and healthy controls and the potential effects of identified single nucleotide variations were evaluated using direct PCR-sequencing and in silico analysis.
In this study, the peripheral blood samples of 50 patients and 50 controls were examined to find any mutation in coding and noncoding exons and exon-intron boundaries of PTGIR gene. DNA was extracted and all the samples were amplified by polymerase chain reaction (PCR) and sequenced.
In this study, the patients had a mean age of 35.235 ± 10.99 years (range, 9–60 yrs.), and female to male ratio was 4:1 in this group. The controls had a mean age of 35.058 ± 11.116 years (range, 8–59 yrs.), and female to male ratio was 3.7:1.3 in this group. Two patients had mutations in exon 2. The first mutation was located in exon 2 (at amino acid position 251) of PTGIR gene at nucleotide position c.866A > T, a synonymous variant described previously in the database. The second mutation was located in exon 2 c.867G > A, which is a missense variant. Sequence analysis revealed high occurrence of previously reported intronic variants mostly in a homozygous statue.
The data supported the hypothesis that mutations in PTGIR gene, particularly the mutation we described, should be considered even in cases of migraine. The presence of this mutation in patients with family history raises important issues regarding genetic counselling.