Effect of short-term psychological intervention on anxiety of pregnant women with positive screening results for chromosomal disorders: a randomized controlled trial

Background and aim Prenatal diagnosis of fetal abnormalities is a critical and stressful event for women. Most pregnant women are concerned about fetal abnormalities and screening tests. Due to the importance of anxiety reduction in pregnant women, this study was conducted to determine the effect of short-term psychological intervention on the anxiety of pregnant women with positive screening results for chromosomal disorders. Methods A randomized clinical trial was performed on women referred to Akbarabadi Hospital in Tehran, Iran, who had positive screening results for chromosomal abnormalities. Participants were selected from eligible individuals by a continuous method and were assigned to two groups of cognitive-behavioral training (n = 46) and control (n = 46), using the block balanced randomization method. Participants in the cognitive-behavioral training group received 4 sessions of individual counseling. The control group received routine pregnancy visits. The Spielberger State-Trait Anxiety Inventory was completed before the intervention and immediately at the end of the intervention (before receiving the amniocentesis result). The analysis of intervention effects was performed as intention-to-treat and per-protocol analysis. Results There was a statistically significant difference in post-intervention state anxiety scores and trait anxiety scores (p < 0.001) between the intervention and control groups, when their means were adjusted for pre-intervention scores for both intention-to-treat and per-protocol analysis. Also, there was a large effect size between the groups in terms of state (ITT: ηp2 = 0.63, PP: ηp2 = 0.71) and trait (ITT: ηp2 = 0.72, PP: ηp2 = 0.75) anxiety scores clinically for both intention-to-treat and per-protocol analysis. The intervention group had a statistically significant and large decrease in state and trait anxiety scores from pretrial to post-trial. In contrast, the control group had a statistically significant and medium increase in state and trait anxiety scores from pretrial to post-trial. Conclusion The results showed that cognitive-behavioral training reduced the anxiety of pregnant women with positive screening results for chromosomal disorders. According to the results, it is recommended to hold cognitive-behavioral training classes to reduce the anxiety of pregnant women with a positive screening result for chromosomal disorders. Trial registration IRCT.ir: IRCT20180427039436N7; date of registration: 24/08/2020 2020-08-24.

Characterization of a Rare Mosaic Unbalanced Translocation of t(3;12) in a Patient With Neurodevelopmental Disorders

Background Unbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable phenotype depending on the tissue distribution and level of mosaicism. Mosaicism for structural chromosomal abnormalities is clinically challenging for diagnosis and counseling due to the limitation of technical platforms and complex mechanisms, respectively. Here we report a case with a tremendously rare maternally-derived mosaic unbalanced translocation of t(3;12), and we illustrate the unreported complicated mechanism using single nucleotide polymorphism (SNP) array, fluorescence in situ hybridization (FISH), and chromosome analyses. Case Presentation: An 18-year-old female with a history of microcephaly, pervasive developmental disorder, intellectual disability, sensory integration disorder, gastroparesis, and hypotonia presented to our genetics clinic. She had negative karyotype by parental report but no other genetic testing performed previously. SNP microarray analysis revealed a complex genotype including 8.4 Mb terminal mosaic duplication on chromosome 3 (3p26.3->3p26.1) with the distal 5.7 Mb involving two parental haplotypes and the proximal 2.7 Mb involving three parental haplotypes, and a 6.1 Mb terminal mosaic deletion on chromosome 12 (12p13.33->12p13.31) with no evidence for a second haplotype. Adjacent to the mosaic deletion is an interstitial mosaic copy-neutral region of homozygosity (1.9 Mb, 12p13.31). The mother of this individual was confirmed by chromosome analysis and FISH that she carries a balanced translocation, t(3;12)(p26.1;p13.31). Conclusion Taken together, the proband, when at the stage of a zygote, likely carried the derivative chromosome 12 from this translocation, and a postzygotic mitotic recombination event occurred between the normal paternal chromosome 12 and maternal derivative chromosome 12 to “correct” the partial 3p trisomy and partial deletion of 12p. To the best of our knowledge, it is the first time that a mechanism utilizing a combined cytogenetic and cytogenomic approach, and we believe it expands our knowledge of mosaic structural chromosomal disorders and provides new insight into clinical management and genetic counseling.

Feeding Appliance for an Infant with Cleft Palate: A Case Report

The cleft palate is a ‘‘congenital defect of the middle third of the face that occurs when an oro-nasal communication is present between the palate and the base of the nose. Single genes, chromosomal disorders or environmental factors may cause clefts. The other possible causes are hormonal imbalances, nutritional deficiencies, infections, radiation during pregnancy, alcohol or cigarette consumption, the ingestion of other teratogenic substances by the mother, and heredity. Immediate problems to be addressed in a new born with this defect would be to aid in suckling and swallowing other problems associated later would be difficulty in speech, altered appearance, many dental problems and psychological problems. Feeding plate (obturator) rehabilitates the oro-nasal gap and helps in feeding and in reduction of airway problems, frequent infections and regurgitations. This paper presents a case report of an infant with cleft palate (Veau II) in whom a feeding plate was delivered, with a simple impression method, which helped the infant feed and restores the proper weight required for cleft palate reconstructive surgery in future. Keywords: Cleft Lip, Cleft Palate, Infant, Obturator

Would I have Wanted to Know? A Qualitative Exploration of Women’s Attitudes, Beliefs and Concerns about Non-Invasive Prenatal Testing for de novo Genetic Conditions after having a Child with a de novo Genetic Disorder

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted to know about their child’s genetic diagnosis prior to delivery. Themes were identified such as having a child with a de novo disorder and effect on pregnancy outcomes in hypothetical situations, impact on family function, the diagnostic journey and personal growth. These themes related to both the concept of expanded NIPT (ENIPT) and the situation of having a child with a de novo genetic disorder that could now hypothetically be detected through ENIPT. Opinions were divided about whether participants would have wanted to know about their affected child’s condition, indicating any expanded NIPT testing panels would need to be offered in the context of an appropriate comprehensive counselling program. How this would be provided on a population screening level and the role of genetic counselling needs further exploration.

The impact of asymmetry on the radiographical outcomes following hip reconstruction in patients with cerebral palsy

Purpose: The purpose of this study was to evaluate the impact of asymmetric hip dysplasia on the outcome of hip reconstruction in patients with cerebral palsy according to preoperative migration percentage (MP). Methods: This study was institutional review board-approved for retrospective cohort review. From 2008 to 2018, 65 patients met inclusion criteria: Gross Motor Function Scale Classification (GMFSC) III to V with spastic hips (MP > 30%) who underwent bilateral hip reconstruction, with a follow-up > 24 months. Main exclusion criteria: children with associated syndromes or chromosomal disorders. The cohort was subdivided into three groups according to preoperative MP difference between hips: Group A > 50%, group B 20% to 50% and Group C < 20%. Subsequently, the groups were analyzed individually and then compared. The asymmetry of extended abduction of the hip was also evaluated and separated into three groups: no asymmetry (< 20° difference), mild asymmetry (20° to 50° difference) and severe (> 50° difference). Results: In total, 65 patients underwent bilateral bony reconstructive surgery (130 hips). Mean age at surgery was 10.1 years (sd 3.6; 3.6 to 18.4). Mean age at follow-up was 14.7 years (sd 3.8; 8 to 21). Preoperative GMFSC distribution was grade III (four, 6%), IV (15, 23%) and V (46, 71%). In all, 21 symmetric hips (< 20% MP difference) had a preoperative MP difference of 9% and a follow-up MP difference of 18% (p > 0.05); 32 had a preoperative MP difference of 34% and a follow-up MP difference of 16% (p < 0.0001); 12 had a preoperative MP difference of 80% and a follow-up difference of 6% (p < 0.0001). According to pre- and postoperative abduction values, the mean high hip abduction preoperatively was 34° (sd 17°), whereas low hip abduction was 23° (sd 17°). Conclusion: Hips with asymmetrical dysplasia and/or abduction undergoing bilateral reconstructive surgery focused on symmetric abduction, and corrected dysplasia in patients with cerebral palsy has improved symmetry in hip abduction and MP. Obtaining this goal immediately postoperatively is maintained to medium-term follow-up. Level of Evidence: IV

Secondary amenorrhea in girls: genealogical and cytogenetic features

Aim. To determine genealogical and cytogenetic features in girls aged 12-17 years with secondary amenorrhea. Methods. The analysis of pedigrees was conducted in 25 families of girls with secondary amenorrhea (main group) and in 25 families of healthy girls in the laboratory of medical genetics of SI "ICAHC NAMS". Cytogenetic analysis was carried out in the blood lymphocytes of the girls of the main and control groups in vitro. The control group consisted of 25 healthy peer girls with a regular menstrual cycle without somatic pathology. The data obtained were analyzed statistically using the Student's t-test in Excel programs. Results. The hereditary burden on non-inflammatory (hormone-dependent) gynecological diseases was found in 60.0% of families, in 86.6% of cases – along the maternal line, in 6.7% – along the paternal line, in 6.7% – on both lines at the same time; 40.0% of girls had no hereditary burden. The total incidence of gynecological (non-inflammatory) diseases among relatives of three degrees of kinship was 13.6%, which was almost three times higher than the frequency in relatives of healthy girls (5.1%, p < 0.001). Cytogenetic analysis conducted in girls of the main group showed an increase in both the overall level of chromosomal disorders (6.2%), and their individual types (3.2%. 3.0%, 1.56%) compared to the frequency in healthy girls. Conclusions. Family accumulation of gynecological (non-inflammatory) diseases in the pedigree of girls with secondary amenorrhea has been established. Cytogenetic features in the blood lymphocytes of sick girls are revealed compared to healthy peers. Keywords: girls, pedigrees, cytogenetic indices, secondary amenorrhea.

Epidemiology of congenital abnormalities in Bahrain

This study was carried out in order to find out the incidence of congenital anomalies in Bahrain. Statistics of the Bahraini Ministry of Health for 11 years from 1980 to 1990 were studied. The overall incidence rate of congenital anomalies in Bahrain was found to be 2. 7% of live births. Each anomaly was studied separately and compared with the incidence in other countries, whenever possible. It was found that anomalies of the musculoskeletal system have the highest incidence [2. 28 per 1000] , followed by the genitourinary system [2. 13 per 1000] , while the incidence of chromosomal disorders was 0. 9 per 1000