Hormonal Contraception Use and Depression Among Women in Saudi Arabia.

Purpose: To estimate the prevalence of depression amongst hormonal and non-hormonal contraception users, and the risk factors associated with depression in the sample. Patients and Methods: This is a community-based cross-sectional study conducted in the Kingdom of Saudi Arabia from October to November 2021, covering all regions of Saudi Arabia. All participants were women, living in Saudi Arabia, ≥21 years old and ≤45 years old, using a contraceptive method, and with no established history of depression. Results: A total of 4853 out of 18,596 met our criteria and were included in this study. Among all sample groups, 29% had moderate to severe depression. Rates of depression and association studies' results in women using hormonal were higher than those who use non-hormonal birth control methods. Psychiatric disorders, medical illnesses, substance use and depressogenic medication use were all associated with depression in both hormonal and non-hormonal contraception users. Conclusion: The current study shows high prevalence of depression amongst hormonal contraceptive users compared to non-hormonal contraceptive users.

Celomic Fluid: Laboratory Workflow for Prenatal Diagnosis of Monogenic Diseases.

BACKGROUND: Celomic fluid can be considered as an ultra-filtrate of maternal serum, containing a high protein concentration, urea, and many other molecules. It is an important transfer interface and a reservoir of nutrients for the embryo. Celomic fluid contains fetal cells that can be used for prenatal diagnosis of monogenic diseases in an earlier gestational period than villocentesis and amniocentesis. OBJECTIVE: The purpose of this study was to evaluate the characteristics of celomic fluid and to establish a workflow laboratory procedure for very early prenatal diagnosis of monogenic diseases. METHODS: Three hundred and eighty-five celomatic fluids were collected between the seventh and tenth week of gestation. We sampled 1 mL of celomic fluid in all cases. The embryo-fetal erythroid precursor cells were selected by the anti-CD71 microbead method or by a direct micromanipulator pick-up on the basis of their morphology. We amplified the extracted DNA using a nested polymerase chain reaction. Primers for short tandem repeat amplification were used to perform a quantitative fluorescent polymerase chain reaction evaluation to control maternal contamination. RESULTS: We observed maternal contamination in 95% of celomic fluids with a range between 5 and 100%. No fetal cells were observed in 0.78% of celomic fluids. The number of fetal cells ranged from a few units to several hundred. Isolation of embryo-fetal erythroblasts selected by the micromanipulator made diagnosis feasible in all cases. CONCLUSIONS: The selection of fetal cells by a micromanipulator and nested polymerase chain reaction analysis made celomatic fluid suitable for early prenatal diagnosis of monogenic disorders even in the presence of high maternal contamination and few fetal cells. The procedure reported in this study provides the opportunity for the use of celomic fluid sampled by celocentesis as an alternative to chorionic villi sampling and amniocentesis, to allow invasive prenatal diagnosis at a very early stage of pregnancy.

Fetal Nucleated Red Blood Cells Preferable Than Cell-Free Fetal DNA for Early Determination of Gender Among Invasive and Non-Invasive Source Using Novel Four Genes Multiplex PCR.

BACKGROUND: Deoxyribonucleic acid from invasive, non-invasive and 9th week embryo can be a resource for the determination of fetal sex using highly sensitive and specific multiplex PCR. METHODS: A total of 402 DNA samples were used to test the newly developed novel multiplex PCR including male specific (3 genes: SRY, DAZ2 and TSPY1) Y-biomarkers and internal control, ACTB. The study isolated cffDNA (Cell-free fetal DNA; n = 73) from mother's plasma, serum and urine, fetal DNA from 9th week embryo and cord blood, and fetal DNA from CD71+ve nucleated red blood cells (fNRBC; n = 73). Paternal and maternal DNA from buccal cells (n = 20) and blood (n = 232) used for male and female confirmation. RESULTS: The study observed that SRY alone cannot be a suitable Y-biomarker. Confirmation from any two Y-biomarkers is mandatory for male fetus identification. Direct sequencing of the gel eluted multiplex and single amplicons confirmed the specific sequences. Presence of two out of 3 Y-biomarkers OR single Y-biomarker with >1,000,000 intensity is considered positive for male. The multiplex PCR is suitable for determining sex from all source of fetal DNA including highly degraded cffDNA and can detect the sex using 0.5ng DNA. Individual marker-based real-time qPCR followed by combined melt curve analysis showed distinguished melt curve peaks for the markers. CONCLUSION: The multiplex PCR achieved 100% accuracy on fetal DNA from fNRBC for early determinations (<13 weeks) of gender. The developed novel and simple multiplex PCR and individual qPCR can be adopted in all types of laboratories for determining human fetal gender using fetal DNA from fNRBC. Early identification of gender can support to prepare for possible X-linked analysis, reduce anxiety in mother, strengthen a bond between mother and fetus, and effective decision making. Non-invasive source of fetal DNA from fNRBC preferred for identifying gender to reduce the risk of invasive procedures in early (8-13 weeks) pregnancy.

Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss.

Family trio next-generation sequencing-based variant analysis was done to identify the genomic reason on unexplained recurrent pregnancy loss (RPL). A family (dead fetus and parents) from Saudi Arabia with an earlier history of three unexplained RPLs at the ninth week of pregnancy was included in the study. Whole-genome sequencing (WGS) of a dead fetus and the parents was done to identify the pathogenic variation and confirmed through Sanger sequencing. WGS of dead fetus identifies a novel homozygous exonic variation (NM_017419.3:c.680G>T) in ASIC5 (acid-sensing ion channel subunit family member 5) gene; the parents are heterozygous. Newly designed ARMS PCR followed by direct sequencing confirms the presence of heterozygous in one subject and absence of homozygous novel mutation among randomly selected healthy Saudis. The second family with heterozygous was confirmed with three unexplained RPLs. Pathogenicity analysis of R227I amino acid substitution in ASIC5 protein through molecular docking and interaction analysis revealed that the mutations are highly pathogenic, decrease the stability of the protein, and prevent binding of amiloride, which is an activator to open the acid-sensing ion channel of ASIC5. The identified rare and novel autosomal recessive mutation, c.680G>T:p.R227I (ASIC5Saudi), in two families confirm the ASIC5 gene association with RPL and can be fatal to the fetus.

Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia.

The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent's choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n = 161) and sickle cell anemia (n = 152) were commonly available genetic disorder among participant's family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

The accuracy of endometrial sampling for the diagnosis of patterns of endometrial pathology in women presenting with abnormal uterine bleeding. More conservative therapeutic approaches.

OBJECTIVES: Abnormal uterine bleeding (AUB) is a leading cause of hysterectomies, the cause of which is usually diagnosed with preoperative endometrial sampling. We planned this study to assess the accuracy of diagnosing the histologic patterns of endometrium in the preoperative sample in reference to the final histologic diagnosis in hysterectomy. METHODS: We retrospectively reviewed medical charts between January 2011 and December 2015 at a tertiary hospital in Saudi Arabia and identified 43 cases of AUB with complete documentation. The histologic diagnoses were classified into normal and benign pathology group (N/B), or carcinoma and hyperplasia category (Ca/H). Measures of validity were used to compare endometrial sampling histological diagnoses to diagnoses following hysterectomy and Cohen's kappa to assess for agreement between the 2 modalities. Results: The median age of all patients was 49 years. Preoperative histologic examination showed 53.8% sensitivity, 90% specificity, 70% positive predictive values and 81.8% negative predictive values, 30.1%  false positive rates and 18.2% false negative rates. The agreement between preoperative and postoperative histologic diagnoses was moderate (79.1%, k=0.469). Conclusion: The accuracy of preoperative histologic examination was moderate. Our findings recommend cautious clinical decision making and limiting hysterectomy to women who do not respond to other therapeutic measures.

Anxiety and depression during pregnancy in women attending clinics in a University Hospital in Eastern province of Saudi Arabia: prevalence and associated factors.

BACKGROUND: Anxiety and depression during the antenatal period is a growing problem with major effects on the mother, the developing fetus, and the neonate. OBJECTIVES: To assess the prevalence of anxiety and depression during pregnancy in women attending the hospital for antenatal care and assess the associated factors. METHODS: This is a prospective cohort study conducted in the University Hospital of Imam Abdulrahman Bin Faisal University. Anxiety was evaluated using State Trait Anxiety Inventory. Depression was assessed using Edinburgh Postnatal Depression Scale (EPDS). RESULTS: Complete data were available for 575 women. The mean EPDS score was 10.5 (SD 5.5). The prevalence of depression was 26.8%. The mean state-anxiety score was 38.4 (SD 11.4) and mean trait-anxiety score was 38.2 (SD 9.5). The prevalence of anxiety using state-anxiety scale was 23.6%, while using the trait scale it was 23.9%. The risk is higher among unemployed women with history of miscarriage and unplanned pregnancy. CONCLUSION: Anxiety and depression are common during pregnancy.

Pregnancy outcome and fertility after complete uterine rupture: a report of 20 pregnancies and a review of literature.

OBJECTIVE: To review the pregnancy outcome in women with previous complete uterine rupture. METHODS: Hospital records of uterine rupture were reviewed from January 1981 to June 2010. All files of these patients were reviewed and patients were contacted by telephone calls to inquire about any further pregnancies after the uterine rupture. RESULTS: Out of 69,452 deliveries, there were a total of 27 cases of uterine rupture. There were 20 pregnancies after repair of complete uterine rupture and 10 of them resulted in live babies, all delivered by cesarean section. Eight pregnancies ended as first-trimeter miscarriages. One pregnancy resulted in preterm vaginal delivery at 24 weeks. There was only one repeat uterine rupture. There were no cases of cesarean hysterectomy. Four women agreed to undergo tubal ligation after the last delivery and two used other contraceptive methods. Two women were being followed for secondary infertility. CONCLUSION: Pregnancy after uterine rupture is associated with relatively good maternal and neonatal outcome when followed in a tertiary center.