Fetal Congenital Malformations Research Articles

Role of Multidetector Computed Tomography with Contrast in Evaluation of Congenital Lung Malformations in Pediatric Age Group at a Tertiary Care Hospital: An Observational Study

Background: Computed tomography (CT) has a larger role in the noninvasive examination of congenital lung abnormalities, thanks to the introduction of multidetector CT (MDCT). If a surgical lesion is suspected, it is often necessary to use cross-sectional imaging, such as CT, for diagnosis confirmation, further lesion definition, and preoperative evaluation. Aims and Objectives: The aim of this study was to enhance comprehension of the occurrence and varieties of congenital lung abnormalities in children, as well as to assess and compare the diagnostic precision of MDCT with that of surgical intervention. Methodology: MDCT with contrast CT was performed in children with respiratory complaints and prenatal history of suspicion in targeted imaging for fetal anomalies (TIFFA) or congenital lung malformations (CLMs) using TOSHIBA 8 slice CT; the study population consisted of 40 pediatric patients with a history of chest anomalies during pregnancy in TIFFA or children with abnormal chest X-ray suspicion of lung anomalies for 18 months. Results: In a study of 40 pediatric patients who underwent MDCT with contrast to evaluate CLMs, 6 were excluded from further evaluation with contrast due to the absence of pulmonary anomalies on plain CT, leaving a possible diagnosis of s CLM in the remaining 34 cases. Of these, cystic pulmonary airway malformations (CPAM) (41.1%) were the most common, followed by congenital lobar emphysema (17.6%), bronchogenic cyst (14.7%), lung agenesis (11.6%), and phylogenetic lung. Conclusion: To notice the characteristics and related anomalies of CLMs and aid in the presurgical evaluation of CLMs, the study concludes that MDCT with contrast is the imaging of choice.

Study of Correlation between Fetal Bowel Dilation and Congenital Gastrointestinal Malformation.

Ultrasound serves as a valuable tool for the early detection of fetal bowel dilatation, yet the correlation between fetal bowel dilatation and gastrointestinal malformations remains to be further investigated. This study aims to explore the relationship by conducting a follow-up and analysis of fetuses with bowel dilation. A retrospective analysis was conducted on 113 fetuses with bowel dilatation at our center from July 2014 to December 2019. The location and degree of bowel dilatation were analyzed. ROC curves were constructed based on the diameter of the bowel and its ratio to fetal gestational age. In total, 40 of 41 cases (97.6%) with upper gastrointestinal dilatation (double-bubble sign) and 46 of 72 cases (63.9%) with lower gastrointestinal dilatation were diagnosed with gastrointestinal malformations postnatally. The AUC of the dilatation diameter was 0.854 with a cutoff value of 18.05 mm in patients with lower gastrointestinal dilatation. The ratio of the diameter to gestational age (D/GA) showed a higher AUC of 0.906 with a cutoff value of 0.4931. The presence of the double-bubble sign in fetuses indicates a close association with duodenal obstruction. The risk of gastrointestinal malformations increases when the bowel diameter exceeds 18.05 mm, particularly when the D/GA surpasses 0.4931.

Congenital fetal malformations: The challenges of diagnosis and management in a resource-poor nation – the role of ignorance: A case report

Regular ante-natal clinic attendance is routine and recommended for every pregnant mother worldwide. Antenatal care services are usually made easily accessible to all pregnant women and offered in most centres within or near communities. This is to encourage all would-be mothers to access the opportunity of being reviewed by trained experts when pregnant. During such visits, necessary routine investigations are carried out and the results are reviewed and acted upon by the midwife/physician. One such investigation is the obstetric ultrasound which should be done at least two times before delivery. This may not always be possible in a poor resource region like ours. Even where feasible, ignorance may militate against its use. So, invariably, many fetal congenital malformations are missed antenatally and diagnosis is only made at birth. Such was the case of Mrs XX. Unfortunately, even after delivery of the malformed baby ignorance still prevailed against proper management of the newborn.

Comparison of Different Ultrasonic Screening Methods and Analysis of High Risk Factors for Fetal Cardiac Malformation in Second Trimester of Pregnancy.

Current study aims to compare the application of two-dimensional (2D) color doppler ultrasound (CDU) and four-dimensional (4D) ultrasound spatiotemporal image correlation (STIC) in fetal congenital heart disease in the second trimester of pregnancy and to analyze the high risk factors of the disease. From August 2019 to July 2021, 135 second-trimester patients with highly suspected congenital heart malformations were selected who underwent prenatal screening at South Taihu Hospital Affiliated to Huzhou University. 2D-CDU, 4D STIC, and postnatal examination were completed in all patients. 2D-CDU, 4D STIC and 2D-CDU combined with 4D STIC were used to detect fetal cardiac malformations and classify cardiac malformations. The sensitivity, specificity, positive predictive value, negative predictive value and coincidence rate of 2D-CDU, 4D STIC and 2D-CDU combined with 4D STIC were compared. The results of 2D-CDU, 4D STIC and 2D-CDU combined with 4D STIC screening were analyzed for consistency using the results of postpartum diagnosis as the gold standard. Moreover, effects of maternal gestational factors on fetal cardiac malformations by univariate and multivariate analysis. 2D-CDU combined with 4D STIC showed significantly higher section display number than 2D-CDU or 4D STIC in the view of ductal arch, aortic arch, and aortic short-axis. A total of 45 cases of fetal congenital heart malformation were detected in 135 patients in the second trimester, 40, 38 or 42 cases were detected by 2D-CDU, 4D STIC or 2D-CDU combined with 4D STIC, respectively. The sensitivity, specificity, positive predictive value, negative predictive value and coincidence rate of 2D-CDU combined with 4D ultrasound in congenital heart malformation screening were higher than those of 2D-CDU or 4D STIC. Kappa agreement analysis showed that the diagnostic results of 4D STIC and 2D-CDU combined with 4D ultrasound in fetuses with suspected congenital heart malformation were in excellent agreement (κ > 0.75), while 2D-CDU was in good agreement with postpartum diagnosis (κ < 0.75). Univariate and multivariate regression analysis revealed that maternal age ≥ 35, drinking during pregnancy, and history of adverse pregnancy and childbirth were all independent risk factors for fetal cardiac malformations, while folic acid supplementation was an independent protective factor for fetal cardiac malformations. 2D-CDU combined with 4D echocardiography may be superior to single 2D-CDU or 4D STIC in the screening of fetal congenital heart malformation in the second trimester. In order to reduce the incidence of fetal heart anomalies, we should strengthen the screening of pregnancy anomalies in high-risk pregnant women and control the risk factors.

Diagnosis of single umbilical artery and risk of foetal congenital malformations by prenatal ultrasound: a retrospective study

BackgroundSingle umbilical artery (SUA) is strongly associated with foetal structural abnormalities; however, the exact pattern of this association has not been described. We aimed to investigate the occurrence of malformations in singleton pregnancies with SUA in China and to study the association between the absent side of the umbilical artery and foetal malformations.MethodsThis was a retrospective study of singleton pregnancies for which routine first-trimester anatomical screening was performed at 11+ 0-13+ 6 gestational weeks and, if the pregnancy continued, a second-trimester scan was performed at 20+ 0-24+ 0 weeks. Data were extracted from records at the referral centre, the Obstetrics and Gynecology Hospital of Fudan University, between January 2011 and April 2019 (n = 47,894). Using logistic regression, the odds ratios (OR) with 95% confidence intervals (CIs) were calculated for malformations associated with SUA.ResultsThe incidence of SUA in our study was 2.0% (970/47,894). Of all foetuses with SUA, 387 (39.9%) had structural malformations. The malformation type varied, with cardiovascular complications being the most common. A robust association was observed between SUA and oesophageal stenosis or atresia (OR: 25.33), followed by cardiovascular (OR: 9.98–24.02), scoliosis (OR: 18.62), genitourinary (OR: 2.45–15.66), and brain malformations (OR: 4.73–9.12). The absence of the left umbilical artery (n = 445, 45.9%) was consistent with that of the right umbilical artery (n = 431, 44.4%). Furthermore, a significantly higher rate of an absent right than the left umbilical artery (p<0.01) was observed in SUA with foetal abnormalities than in SUA with no malformations.ConclusionsOverall, we observed a higher risk of various specific malformations in foetuses with SUA, and a strong association between SUA and oesophageal stenosis or atresia. The absence of the right umbilical artery was most common in foetuses with SUA and structural malformations. This study provides a reference for ultrasonographers in conducting foetal structural screening for pregnant women with SUA.

Identification of MicroRNA Profiles in Fetal Spina Bifida: The Role in Pathomechanism and Diagnostic Significance.

Distinct miRNA expression patterns may reflect anomalies related to fetal congenital malformations such as spinal bifida (SB). The aim of this preliminary study was to determine the maternal miRNA expression profile of women carrying fetuses with SB. Therefore, six women carrying fetuses with SB and twenty women with euploid healthy fetuses were enrolled in this study. Using NanoString technology, we evaluated the expression level of 798 miRNAs in both plasma and amniotic fluid samples. A downregulation of miR-1253, miR-1290, miR-194-5p, miR-302d-3p, miR-3144-3p, miR-4536-5p, miR-548aa + miR-548t-3p, miR-548ar-5p, miR-548n, miR-590-5p, miR-612, miR-627-5p, miR-644a, and miR-122-5p, and an upregulation of miR-320e, let-7b-5p, miR-23a-3p, miR-873-3p, and miR-30d-5p were identified in maternal amniotic fluid samples in SB when compared to the control group. The target genes of these miRNAs play a predominant role in regulating the synthesis of several biological compounds related to signaling pathways such as those regulating the pluripotency of stem cells. Moreover, the maternal plasma expression of miR-320e was increased in pregnancies with SB, and this marker could serve as a valuable non-invasive screening tool. Our results highlight the SB-specific miRNA signature and the differentially expressed miRNAs that may be involved in SB pathogenesis. Our findings emphasize the role of miRNA as a predictive factor that could potentially be useful in prenatal genetic screening for SB.

Point-of-care ultrasound, today, tomorrow, and the future – the place for task sharing

Background: Maternal and neonatal morbidity and mortality remain public health concerns. A study onmortality in Kenyan hospitals found that neonates comprise two-thirds of deaths in the pediatric agegroup (0–13 years). These deaths are caused by preventable conditions or those, which can bemanaged better if diagnosed early, such as placenta insufficiency, placenta previa, severe fetal growthrestriction, congenital abnormalities, multiple pregnancies, and breech presentation; these can all beidentified using point-of-care ultrasound (POCUS). Obstetrical ultrasound availability is limited to level 4and higher facilities, yet most women access lower levels of health care. Implementation of POCUS iscurrently limited because of a lack of appropriate training, limited scope of practice for frontline workers,and legal framework.Objective: The POCUS project is being undertaken to develop national guidelines to facilitate the roll outand scale-up of obstetrical POCUS.Methods: A collaborative participatory approach is planned for the development of the national POCUSguidelines. The key in this process is the identification of suitable frontline workers who, with adjustmentto their scope of practice, appropriate training, implementation of a supervision/referral system, canundertake obstetrical POCUS and gain buy-in from regulatory bodies, the inclusion of voices of relevantstakeholders, and leadership from government. A landscape and stakeholders analysis will also beundertaken as part of the process of the guideline development.Results: Narrative literature review shows that the WHO recommends effective and reliable antenatalultrasound services to be available to all pregnant women to optimize maternal and newborn healthoutcomes and at least one ultrasound scan up to 24 weeks of pregnancy. That there are deliberateefforts in Kenya to introduce POCUS with pilot training and implementation. Where obstetrical POCUS isimplemented, it is useful in diagnosing fetal malpresentation, placenta previa, congenital malformations,or multiple pregnancies. Appropriate interventions, such as reduction of cesarean delivery, induction oflabor, reduction of small for gestational age, low birthweight, preterm birth, and stillbirths, can improve thehealth outcome of the mother and neonate. There is a need to develop national POCUS guidelines.Conclusions: Implementation of POCUS may be riddled with difficulties, particularly where frontlineworkers’ current scope of practice may not allow them to perform such procedures, regulatoryframework, lack of knowledge, awareness, negative attitude, or behavior. The proposed guidelines willaddress these barriers.

Ethical considerations in prenatal diagnosis and genetic counseling

Introduction: Prenatal diagnosis, as the world widest spread reproductive option, refers to fetus health research methods. Fetal life congenital malformation detection and allowing termination of pregnancy are among its main objectives. An ethical approach, based on respect for people and for confidentiality, avoiding hurt and respecting autonomy, is the key towards optimum genetic counseling. Objective: to set out some ethical considerations in medical genetics health care practice starting from bioethics fundamental principles, which are linked to prenatal diagnosis and to the genetic counseling process. Results: Since dealing with issues related to these ethical aspects in medical genetics practice is a relatively new subject that has been influenced by the development of bioethics and the solution to ethical and social dilemmas in medical practice. Conclusions: In the field of prenatal diagnosis some ethical, social and juridical conflicts could be presented, for that reason doctors should apply on their professional exercise the bioethical principles of autonomy, justice, beneficence and not maleficence, which constitute the main rules that regulate their conduct and give then the basis for the reasoning and orientation for their actions during the genetic counseling process.

Micronutrient status of pregnant women with fetal congenital malformations

Micronutrient status of pregnant women with fetal congenital malformations

Oncologic and Fertility Outcomes After Simple Trachelectomy in Women With Early Cervical Cancer

Study Objectiveto present our case series of patients with early-stage cervical cancer undergoing simple trachelectomy. Currently, radical trachelectomy is considered the most appropriate fertility preserving procedure for the treatment of early-stage cervical cancer. However, there is increasing debate on the appropriate radicality of the surgery in order to preserve oncologic safety. Designdescriptive retrospective analysis of patient records and evaluation of questionaires Settingtwo gynecologic oncologic centers, surgeries performed by one surgical team Patients36 women with early-stage cervical cancer undergoing simple trachelectomy Interventionslaparoscopic assisted simple vaginal trachelectomy MeasurementsDemographic, histological, fertility and follow-up data of all patients who underwent simple trachelectomy between 04/2007 and 7/2021 were prospectively recorded and retrospectively analyzed. Main Results36 women (mean age: 28 years) underwent simple trachelectomy of whom 81% were nulliparous. Indications for simple trachelectomy were multifocal FIGO stage IA1 (n=30), stage IA1 L1 (n=1), stage IA2 (n=2) and stage IB1 (n=3), respectively. Mandatory staging-procedure was laparoscopic pelvic lymphadenectomy, including bilateral sentinel-biopsy in 92% of the cases and systematic in 8%. Residual tumor was histologically confirmed in 8 specimens (22%). 18 women (50%) were seeking parenthood, 13 succeeded (72%). There were 16 live births, all on term, with a median fetal weight of 3110 (2330-4420) gram. One patient had a medical abortion due to fetal congenital malformation. One pregnancy is ongoing. After a median follow-up of 91.5 (9-174) months all women are alive with no evidence of disease. ConclusionSimple trachelectomy represents a de-escalation compared to radical trachelectomy and provides excellent oncologic results with an outstanding fertility rate and obstetrical outcome for patients with early cervical cancer. However, clear indications for this tailored fertility-preserving surgery have to be defined in well-designed trials.

Ultrasound measurements of fetal facial profile markers and their associations with congenital malformations during early pregnancy

BackgroundFetal facial profile could be measured during the early pregnancy. Its abnormalities might be associated with certain congenital malformations. We aimed to study the associations between fetal facial profile measurements with crown-rump length and congenital malformations (cleft lip and palate, micrognathia, and open spina bifida) during early pregnancy.MethodsWe performed a prospective cross-sectional study between June 2019 and April 2022. Pregnant women at a gestational age between 11–13+ 6 weeks were enrolled. Two sonographers performed fetal facial profile measurements independently. The associations between these measurements with crown-rump length and congenital malformations were evaluated.ResultsThere were 406 and 25 fetuses without or with congenital malformations, respectively. Two sonographers showed satisfactory inter- and intra-observer agreements and reproducibility. The maxillary gap was only observed in 7.6% of normal fetuses, whereas all cleft lip and palate fetuses had a maxillary gap ≥ 0.8 mm. The crown-rump length was negatively correlated with frontomaxillary facial angle, inferior facial angle, and profile line distance but positively correlated with maxilla-nasion-mandible angle, facial maxillary angle, frontal space distance, and palatine maxillary diameter. These measurements showed various significant changes with different congenital malformations.ConclusionsMeasurements of fetal facial profile in early pregnancy were feasible with satisfactory reproducibility. These measurements correlated with crown-rump length and showed significant differences with certain fetal congenital malformations.

Epigenetic mechanisms of fetal programming in excessive intake of synthetic folates at the preconception stage

To date, there is no doubt that taking folic acid at the perigravid stage in an adequate dosage has a positive effect on fetal development and the course and outcome of pregnancy. There is extensive evidence that during pregnancy, folate deficiency is associated with spontaneous miscarriages, premature birth, and premature detachment of the normally positioned placenta, and it can cause intrauterine malformations of the nervous and cardiovascular systems of the fetus.&#x0D; Understanding the need to reduce such severe complications, which have both medical and social significance, has contributed in a number of countries to the introduction of programs for food fortification and routine prescribing of folic acid preparations to pregnant women. The measures taken significantly reduced the incidence of fetal congenital malformations, but at the same time, this strategy had a negative effect, resulting in a chronic overdose of synthetic folic acid. Recent studies have shown that the accumulation of non-metabolized folic acid in a pregnant woman may be associated with obstetric pathology and impaired development of fetuses and newborns. There is growing evidence that prolonged folic acid overdose during pregnancy, especially in the presence of altered levels of other vitamins, may lead to such diseases in children as autism and multiple amyotrophic sclerosis. Thus, this issue requires in-depth study in order to move from the routine prescription of folic acid preparations to personalized nutritional support for women at the preconception stage and during pregnancy.

Adverse maternal outcomes associated with major fetal malformations after singleton live birth

Major fetal malformations complicate 2% to 5% of live births. It is unclear what effect fetal malformations have on severe maternal morbidity. This study aimed to compare maternal outcomes between individuals with a fetus with major or minor fetal malformations and those with a fetus without major or minor fetal malformations. This was a secondary analysis of the Consortium on Safe Labor database. Our study was limited to the current analysis of pregnant individuals with a singleton live birth. Major fetal malformations based on the Centers for Disease Control and Prevention's criteria were defined. Fetal malformations that did not meet the criteria for major fetal malformations were categorized as minor fetal malformations. Our primary maternal outcome was severe maternal morbidity as defined by the Centers for Disease Control and Prevention. Missing values were imputed by multiple imputation using the k-nearest neighbor imputation method. Poisson regression with robust error variance was used to obtain adjusted relative risks with 95% confidence intervals, controlling for confounders. Of 216,881 deliveries, there were 201,860 cases (93.1%) with no congenital malformation, 12,106 cases (5.6%) with minor fetal malformations, and 2845 cases (1.3%) with major fetal malformations. Compared with individuals with no fetal malformation, those with major fetal malformations were more likely to have severe maternal morbidity (0.7% vs 1.2%; adjusted relative risk, 1.51; 95% confidence interval, 1.07-2.12), postpartum hemorrhage (3.6% vs 6.9%; adjusted relative risk, 1.76; 95% confidence interval, 1.50-2.06), preeclampsia (5.1% vs 8.3%; adjusted relative risk, 1.48; 95% confidence interval, 1.31-1.67), and cesarean delivery (26.7% vs 42.3%; adjusted relative risk, 1.51; 95% confidence interval, 1.45-1.58). Compared with individuals with no fetal malformation, those with minor fetal malformations were more likely to have severe maternal morbidity (0.7% vs 1.4%; adjusted relative risk, 1.73; 95% confidence interval, 1.48-2.02), maternal death (0.01% vs 0.03%; adjusted relative risk, 4.50; 95% confidence interval, 1.18-17.19), postpartum hemorrhage (3.6% vs 6.1%; adjusted relative risk, 1.54; 95% confidence interval, 1.41-1.68), preeclampsia (5.1% vs 8.6%; adjusted relative risk, 1.50; 95% confidence interval, 1.41-1.60), superimposed preeclampsia (1.2% vs 2.4%; adjusted relative risk, 1.25; 95% confidence interval, 1.14-1.38), cesarean delivery (26.7% vs 39.6%; adjusted relative risk, 1.38; 95% confidence interval, 1.35-1.41), chorioamnionitis (3.0% vs 4.7%; adjusted relative risk, 1.41; 95% confidence interval, 1.29-1.53), and postpartum endometritis (0.6% vs 1.0%; adjusted relative risk, 1.58; 95% confidence interval, 1.31-1.90). Major and minor congenital fetal malformations are independent risk factors for severe maternal morbidity and other pregnancy complications.

Effect of Powerbreath Medic Plus versus Threshold IMT on maximal inspiratory pressure and functional capacity in post-operative ventricular septal defect closure: A protocol for a randomized controlled trial

Background: Congenital heart disease is a general phrase that refers to any heart conditions that exist at birth, the most prevalent of which being ventricular septal defects (VSD) and foetal congenital malformations. VSD refers to the presence of aperture between the ventricles which leads to mixing of oxygenated and de-oxygenated blood. Although many VSDs close on their own, failing to do so can result in a number of issues and typically necessitates open heart surgery for closure of the defect. According to various studies, there is reduced functioning of diaphragm post cardiac surgeries which leads to occurrences of pulmonary complications such as lung collapse, fluid accumulation in pleura, pneumonia, acute respiratory distress syndrome and pneumothorax which can be debilitating and jeopardize recovery as well as increase hospital stay. There are several devices which are proven to improve the strength of inspiratory musculature and hence improve maximal inspiratory pressure and functional capacity post cardiac surgeries. Method: In this study we aimed to assess and evaluate the effectiveness of Powerbreath Medic Plus and Threshold Inspiratory Muscle Trainer (IMT) adjunct to conservative physiotherapy management on subjects who underwent VSD closure in a two arm parallel superiority randomized control trial on improving maximal inspiratory pressure and functional capacity. 60 individuals in total will be allocated equally into two groups, and both groups will be receiving treatment for four weeks with five sessions per week. After four weeks of therapy and two weeks after the intervention is through, the results will be assessed for follow-up. Predicted results: By increasing maximal inspiratory pressure and functional capacity, this technique may be used to treat complications following heart surgery if our study's premise is found to be significant. CTRI registration: CTRI/2023/03/051090

Ultrasonographic monitoring of fetal eye growth parameters throughout gestation in the common marmoset (Callithrix jacchus).

The common marmoset (Callithrix jacchus) is considered an ideal species for developing genetically modified nonhuman primates (NHP) models of human disease, particularly eye disease. They have been proposed as a suitable bridge between rodents and other NHP models due to their similar ophthalmological features to humans. Prenatal ultrasonography is an accurate and reliable diagnostic tool for monitoring fetal development and congenital malformation. We monitored fetal eye growth and development using noninvasive ultrasonography in 40 heads of clinically normal fetuses during pregnancy to establish the criteria for studying congenital eye anomalies in marmosets. The coronal, sagittal, and transverse planes were useful to identify the facial structures for any associated abnormalities. For orbital measurements, biorbital distance (BOD), ocular diameter (OD), interorbital distance (IOD), and total axial length (TAL) were measured in the transverse plane and carefully identified for intraorbital structures. As a result, high correlations were observed between delivery-based gestational age (GA) and biparietal diameter (BPD), BOD, OD, and TAL. The correlation assessments based on BOD provide more reliable results for monitoring eye growth and development in normal marmosets than any other parameters since BOD has the highest correlation coefficient according to both delivery-based GA and BPD among ocular measurements. In conclusion, orbital measurements by prenatal ultrasonography provide reliable indicators of marmoset eye growth, and it could offer early diagnostic criteria to facilitate the development of eye disease models and novel therapies such as genome editing technologies in marmosets.

ОРГАНИЗАЦИОННО-МЕТОДИЧЕСКИЕ ПОДХОДЫ К ИЗУЧЕНИЮ МЛАДЕНЧЕСКОЙ СМЕРТНОСТИ

The review reflects the relevance of the problem of infant mortality in the Russian Federation. Ap-proaches to the study of infant mortality were analyzed. The main risk factors for congenital patholo-gy of children, its conditioning by the presence of extragenital pathology of female mothers are pre-sented. The results of regional studies showing both the dynamics of infant mortality and its structure are reflected. The design approaches of infant mortality management, the latest technological devel-opments, achievements in basic and applied medical science are analyzed. The need to use task placement models in the maternity and childhood service aimed at timely diagnosis and preservation of the health of the child population has been demonstrated. The application of screening programs for the presence of congenital defects aimed at their early detection, optimal treatment and rehabilita-tion was assessed. The need to predict the formation of congenital fetal malformations in pregnant women in the first trimester of pregnancy is shown.

Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations.

Rapid advances in genetic testing have improved the probability of successful genetic diagnosis. For couples who undergo a termination of pregnancy (TOP) due to foetal congenital malformations, these techniques may reveal the underlying cause and satisfy parents' need to know. The aim of this qualitative descriptive research study was to explore couples' experience of being recontacted after a congenital malformation-related TOP, as well as their reasons for participation. A retrospective cohort of 31 eligible candidates was recontacted for additional genetic testing using a standardized letter followed by a telephone call. Fourteen participants (45%) were included. Data were collected through semi-structured interviews at a hospital genetics department (UZ Brussel). Interviews were audiotaped, transcribed and analysed using thematic analysis. We found that despite the sometimes considerable length of time that passed since TOP, participants were still interested in new genetic testing. They appreciated that the initiative originated from the medical team, describing it as a "sensitive" approach. Both intrinsic (providing answers for themselves and their children) and extrinsic motivators (contributing to science and helping other parents) were identified as important factors for participation. These results show that participants often remain interested in being recontacted for new genetic testing such as whole genome sequencing, even after several years. As such, the results of this study can offer guidance in the more general current debate on recontacting patients in the field of genetics.

Diagnosis of Fetal Congenital Malformation as Risk Factor for Postpartum Depression [ID: 1377045

INTRODUCTION: Annually, more than 7.9 million children, or 6% of all neonates worldwide, are diagnosed with fetal congenital malformations (FCMs). This diagnosis is the second largest cause of infant mortality and is an important cause of maternal vulnerability during pregnancy. This study aims to determine whether the incidence of postpartum depression (PPD) is increased in mothers with FCM, in comparison to mothers without such diagnosis. METHODS: A retrospective chart review was conducted between January 1, 2015, and April 1, 2022. Inclusion criteria required a) at least one prenatal visit, b) a postpartum visit, c) completion of Edinburgh Postpartum Depression Scale (EPDS), and d) prenatal diagnosis of FCM. The control group required a–c with absence of significant perinatal complications. Two hundred FCM and 200 control participants were included. An EPDS score of greater than 12 was considered positive and at risk of PPD. Independent-samples t test and χ2 analysis were conducted. RESULTS: Independent-samples t test, comparing the study and control participants, noted a statistically significant difference in at-risk EPDS scores. Mothers with FCM diagnosis scored higher on questions 3, 7, and 8. Chi-square analysis noted a statistically significant difference in risk of PPD between mothers with FCM and those without such diagnosis. CONCLUSION: Mothers with a diagnosis of FCM are more likely to score higher on EPDS and be at-risk for PPD, thereby revealing the importance to closely monitor their psychiatric status. Future studies should analyze the incidence of maternal psychiatric diagnoses based on the severity of newborn intervention required postpartum.

Repeated clinical case of fetal congenital malformation in a family with hereditary short-rib thoracic dysplasia type 3

The article shows the genetic causes of recurrent fetal malformations on the example of a clinical case of hereditary short-rib thoracic dysplasia type 3.&#x0D; Congenital malformations of the fetus are most often sporadic; however, in rare cases, this pathology can recur in one married couple, and the formation of congenital anomalies during subsequent pregnancy can both have general syndromes and affect various systems and organs.&#x0D; Short-rib thoracic dysplasia type 3 is a rare genetic disorder with autosomal recessive inheritance. Patients for whom the carriage of pathogenic alleles in genes associated with congenital skeletal anomalies has been confirmed require a detailed clinical examination. Such married couples want expert-level medical genetic counseling with performing additional genetic tests, if necessary. This may clarify the diagnosis, which will determine further tactics for preparing the couple for the next pregnancy on their own or using assisted reproductive technology programs and / or surrogate motherhood.

Artificial oocyte activation using Ca2+ ionophores following intracytoplasmic sperm injection for low fertilization rate.

This large multi-center retrospective study examined whether artificial oocyte activation (AOA) using Ca2+ ionophore following ICSI improves the live birth rate for couples with previous ICSI cycles of unexplained low fertilization rate. In this large-scale multi-center retrospective study conducted in Japan, data were collected from Keio University and 17 collaborating institutions of the Japanese Institution for Standardizing Assisted Reproductive Technology. Between January 2015 and December 2019, 198 couples were included in this study. Oocytes for both the intervention and control groups were procured from the same pool of couples. Oocytes obtained from ICSI cycles with no or low fertilization rate (<50%) with unknown causes were included in the control (conventional ICSI) group while oocytes procured from ICSI cycles followed by performing AOA were assigned to the intervention (ICSI-AOA) group. Those fertilized with surgically retrieved sperm were excluded. ICSI-AOA efficacy and safety were evaluated by comparing these two groups. Live birth rate was the primary outcome. The ICSI-AOA group (2,920 oocytes) showed a significantly higher live birth per embryo transfer rate (18.0% [57/316]) compared to that of the conventional ICSI group with no or low fertilization rate (1,973 oocytes; 4.7% [4/85]) (odds ratio 4.5, 95% confidence interval 1.6-12.6; P<0.05). A higher live birth rate was observed in younger patients without a history of oocyte retrieval. Miscarriage, preterm delivery, and fetal congenital malformation rates were similar between the two groups. ICSI-AOA may reduce fertilization failure without increasing risks during the perinatal period. AOA may be offered to couples with an ICSI fertilization rate < 50%.