The Psychological Impact of the COVID-19 Outbreak on Pregnancy and Mother-infant Prenatal Bonding.

This study aimed to assess the impact of the COVID-19 stress and anxiety on prenatal attachment during the second trimester of gestation. Pregnancy is an important stage for mothers-to-be in creating representations of themselves as a "mother", with the developing attachment relationship to the unborn child considered as a milestone in the future parent's developmental trajectory. The outbreak of the COVID-19 pandemic and the national health measures installed can hence have consequences on these representations and on prenatal attachment. Our sample consisted of 95 mothers that were recruited from a prenatal ultrasound screening center. Results suggested that the COVID-19 pandemic significantly affected prenatal attachment (PAI) with significant correlations between PAI total score and age, anxiety (DASS) and stress (IES-R). When entered in one model looking for predictors of PAI total score, age and COVID-19 stress were the only variables found to significantly predict prenatal attachment. We argue for a cultural component in explaining these results, hypothesizing that stress could trigger defensive strategies, leading to more investment in the attachment relationship, potentially playing the role of a protective factor.

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease.

INTRODUCTION: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3. CASE REPORT: We report a consanguineous family with three affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra-uterine demise and one neonatal death, without identifying any genetic disorder. During the couple's most recent pregnancy, fetal anomaly sonogram and fetal CT scan revealed microcephaly, intracranial calcifications, exophthalmos, hypertelorism, depressed nasal bridge, midface hypoplasia and thoracic hypoplasia. Fetal blood sampling for whole exome sequencing revealed a novel pathogenic homozygous variant c.1363+1G > A in the FAM20 C gene associated with Raine syndrome. Delivery occurred at 26 weeks of gestation after rupture of membranes followed by neonatal death due to respiratory failure. REVIEW: A review of the distinctive features of Raine syndrome, the contribution of different prenatal imaging modalities (Ultrasound, Computed Tomography and Magnetic Resonance Imaging) in making the diagnosis and the molecular characterization of this disorder is provided.

Biplane mode for more precise intrauterine procedures.

The evolution of ultrasound and the introduction of 3- and 4-dimensional ultrasound techniques led to a shift in the perception and usage of ultrasound in fetal medicine. The biplane mode might help in multiple fetal procedures, including but not limited to basic intrauterine thoracocentesis, thoracoamniotic shunting, amnioreduction, amnioinfusion, cordocentesis, intraumbilical infusion, and umbilical cord coagulation, with a possible reduction in the complication rate. Despite its theoretical usefulness, more studies are required to assess the clinical importance of this technique.

Human placental perfusion measured using dynamic contrast enhancement MRI.

OBJECTIVES: To evaluate the feasibility of dynamic contrast enhanced magnetic resonance imaging (DCE MRI) and measure values of in vivo placental perfusion in women. METHODS: This study was part of the Placentimage trial (NCT01092949). Gadolinium-chelate (Gd) enhanced dynamic MRI was performed two days before termination of pregnancies at 16 to 34 weeks gestational age (GA). Quantitative analysis was performed using one-compartment intravascular modeling. DCE perfusion parameters were analyzed across GA and were compared in IUGR and AGA fetuses. RESULTS: 134 patients were enrolled. After quality control check, 62 DCE MRI were analyzed including 48 and 14 pregnancies with normal and abnormal karyotypes, respectively. Mean placental blood flow was 129±61 mL/min/100ml in cases with normal karyotypes. Fetuses affected by IUGR (n = 13) showed significantly lower total placental blood flow values than AGA fetuses (n = 35) (F total = 122±88 mL/min versus 259±34 mL/min, p = 0.002). DCE perfusion parameters showed a linear correlation with GA. CONCLUSIONS: Measuring placental perfusion in vivo is possible using DCE MRI. Although this study has many limitations it gives us the first DCE MRI values that provide a potential standard for future research into placental perfusion methods and suggests that placental functional parameters are altered in IUGR pregnancies.

Letter to the Editor in response to 'Parental attachment and depressive symptoms in pregnancies complicated by twin-twin transfusion syndrome: a cohort study'.

Twin-twin transfusion syndrome is a highly morbid condition that can affect parental attachment and depression risk. Studies addressing this rare condition are hard to conduct and thus lacking in the literature. In this letter to the editor, we acknowledge the article of Mackie et al. entitled "Parental attachment and depressive symptoms in pregnancies complicated by twin-twin transfusion syndrome: a cohort study" to be of high importance and impact, but would like to discuss the extent of its conclusions, and push towards bigger studies in this field.

Obstetric Ultrasound Screening in a Rural Area of Lebanon One Small Step With a Promising Major Impact.

OBJECTIVES: Our aim was to evaluate the conditions and to weigh the potential impact of an obstetrical ultrasound screening intervention on pregnant patients in an underserved area of Lebanon with the presence of refugees. METHODS: We performed a cross-sectional study in a rural region in North Lebanon. Monthly second-trimester obstetrical ultrasound scans were offered to patients. A thorough analysis of the population's characteristics was done, the anomalies discovered were documented and follow up recommendations were offered. RESULTS: 268 screening ultrasounds were performed over a one-year period. The patients' mean age was 27.5 ± 8.5 years with a 35% consanguinity rate. A positive personal history of abnormalities was recognized in 34% of cases, and a positive family history in 21% of them. The average gestational age was of 23.3 ± 1.4 weeks of gestation. We found a rate of 8.6% inaccurate dating, 20% growth abnormalities, and 12% morphological abnormalities requiring follow-up. These latter included defects affecting multiple organ systems among which renal, neurological, and cardiac structures were the most frequently affected (2.5%, 2%, and 1.6% respectively). Overall, 35.8% of the screened cases required a follow-up for 1 or more abnormal findings. CONCLUSIONS: The findings confirmed the necessity to introduce a prenatal ultrasound screening program in rural areas of Lebanon where refugees are settled. The lack of adequate ultrasound screening in these regions presents major threats that can hinder any pregnancy. Our simple intervention tackles the burden of diagnosis of these risks in up to 35.8% of pregnancies and thus can help improve outcomes.

Assessment of BOLD response in the fetal lung.

OBJECTIVE: Assessment of lung development and maturity is of utmost importance in prenatal counseling. Blood oxygen level-dependent (BOLD) effect MRI was developed for functional evaluations of organs. To date, no data are available in fetal lungs and nothing is known about the existence of a BOLD effect in the lungs. The aim of our study was to evaluate if a BOLD response could be detected in fetal lungs. MATERIALS AND METHODS: From January 2014 to December 2016, 38 healthy pregnant women were prospectively enrolled. After a routine scan on a 1.5-T MRI device (normoxic period), maternal hyperoxia was induced for 5 min before the BOLD sequence (hyperoxic period). R2* was evaluated by fitting average intensity of the signal, both for normoxic (norm) and hyperoxic (hyper) periods. RESULTS: A significant BOLD response was observed after maternal hyperoxia in the lungs with a mean R2* decrease of 12.1 ± 2.5% (p < 0.001), in line with the placenta response with a mean R2* decrease of 19.2 ± 5.9% (p < 0.0001), confirming appropriate oxygen uptake. Conversely, no significant BOLD effect was observed for the brain nor the liver with a mean ∆R2* of 3.6 ± 3.1% (p = 0.64) and 2.8 ± 3.7% (p = 0.23). CONCLUSION: This study shows for the first time in human that a BOLD response can be observed in the normal fetal lung despite its prenatal "non-functional status." If confirmed in congenital lung and chest malformations, this property could be used in addition to the lung volume for a better prediction of postnatal respiratory status. KEY POINTS: • Blood oxygen level-dependent (BOLD) effect MRI was developed for functional evaluations of organs and could have interesting implications for the fetal organs. • Assessment of lung development is of utmost importance in prenatal counseling, but to date no data are available in fetal lungs. • BOLD response can be observed in the normal fetal lung opening the way to studies on fetus with pathological lungs.

Announcing fetal pathology: Challenges encountered by physicians and potential role of simulation in training for breaking bad news.

BACKGROUND: Informing couples about the diagnosis of severe fetal pathologies is part of the daily routine in fetal medicine. This situation is usually complex and can put untrained professionals in an uncomfortable position. The aim of this study was to assess the perception of health care professionals when faced with the need to announce a fetal pathology in order to target their training gaps in this domain. MATERIALS AND METHODS: A questionnaire was created and disseminated on a national level among physicians practicing or collaborating with the multidisciplinary centers of prenatal diagnosis in France. The questionnaire focused on the difficulties encountered by practitioners when announcing fetal pathologies, and their potential interest in simulation sessions regarding the delivery of bad news. RESULTS: 193 participants filled the questionnaire. 65 % report not receiving any theoretical courses in this field during their initial training, 49 % admit feeling uncomfortable when a fetal anomaly needs to be announced, 79.5 % think that role-play could help them, 87.5 % believe that training sessions in communication skills would help improve their methods and 73.1 % support teaching the delivery of bad news by simulation sessions. CONCLUSION: This survey illustrates the significance of announcing a fetal pathology for fetal medicine professionals. Many of them report not being properly trained to cope with this situation and would like to improve with a more practical way of teaching. Simulation would be the ideal educational tool to meet this demand.

Management of monochorionic twins discordant for structural fetal anomalies.

OBJECTIVE: To review the perinatal management and outcomes of monochorionic twin pregnancies (MC) discordant for congenital anomalies (DCA). METHODS: Retrospective, study of all MC DCA cases referred to our tertiary referral center from 1997 to 2018. We excluded cases complicated with twin-to-twin transfusion syndrome, twin anemia-polycythemia sequence, twin reversed arterial perfusion sequence or selective intra-uterine growth restriction. Patients were counseled about the possibility of expectant (EM) or interventional management (selective feticide [SF] or termination of the entire pregnancy [TOP]). RESULTS: One hundred eight of 4157 (2.6%) MC pregnancies were discordant for anomaly. Fifty two of 108 n(48.1%) underwent SF at a mean gestational age of 31.4 ± 5.9 weeks while 52/108(48.1%) opted for EM. Livebirth rate of the healthy co-twin was similar between the two groups (SF: 88.5% vs EM: 82.7%, P = .87). In the SF group, six healthy co-twins (6/52, 11.5%) died 5.3 ± 3.1 days after SF of the abnormal co-twin. In the EM group, in-utero demise of the abnormal twin occurred in 9 of 52 (17.3%) of the cases and was followed by the spontaneous demise of the healthy co-twin in 4 of 9 (44.4%) of these cases. CONCLUSION: Selective feticide does not seem to significantly alter survival of the healthy co-twin compared to EM.

Quantitating skill acquisition with optical ultrasound simulation.

OBJECTIVE: To investigate and compare the effect of simulator training on quantitative scores for ultrasound-related skills for trainees with novice level ultrasound experience and expert ultrasound operators. METHODS: Three novice (comprising of 11, 32, 23 participants) and one expert (10 participants) subgroups undertook an ultrasound simulation training session. Pre- and post-training test scores were collected for each subgroup. Outcome measures were as follows: mean accuracy score for obtaining the correct anatomical plane, percentage of correctly acquired target planes, mean number of movements, time to achieve image, distance travelled by probe and accumulated angling of the probe. RESULTS: The novices showed improvement in image acquisition after completion of the simulation training session with an improvement in the rate of correctly acquired target planes from 28-57% to 39-83%. This was not replicated in the experts. The novice's individual ratios based on pre- vs. post-training metrics improved between 1.7- and 4.3-fold for number of movements, 1.9- and 6.7-fold for distance, 2.0- and 5.2-fold for time taken and 1.8- and 7.3-fold for accumulated angling. Among the experts, there was no relationship between pre-training simulator metrics and years of ultrasound experience. CONCLUSIONS: The individual simulation metrics suggest the sessions were delivered at an appropriate level for basic training as novice trainees were able to show demonstrable improvements in both efficiency and accuracy on the simulator. Experts did not improve after the simulation modules, and the novice scores post-training were similar to those of experts, suggesting the exercises were valid in testing ultrasound skills at novice but not expert level.

The use of fetal MRI for renal and urogenital tract anomalies.

Fetal anomalies are detected in approximately 2% of all fetuses and, among these, genitourinary tract abnormalities account for 30% to 50% of all structural anomalies present at birth. Although ultrasound remains the first line diagnostic modality, fetal MRI provides important additional structural and functional information, especially with the development of faster sequences and the use of functional sequences. The added value of MRI-based imaging is three-fold: (a) improvement of diagnostic accuracy by adequate morphological examination, (b) detection of additional anomalies, and (c) in addition, MRI has the potential to provide information regarding renal function. In this review, we describe the role of fetal MRI in the anatomical evaluation of renal and urogenital tract anomalies, and we also touch upon the contribution of functional MRI to the diagnostic workup of these conditions.

Introduction of Ultrasound Simulation in Medical Education: Exploratory Study.

BACKGROUND: Ultrasound is ubiquitous across all disciplines of medicine; it is one of the most commonly used noninvasive, painless diagnostic tools. However, not many are educated and trained well enough in its use. Ultrasound requires not only theoretical knowledge but also extensive practical experience. The simulated setting offers the safest environment for health care professionals to learn and practice using ultrasound. OBJECTIVE: This study aimed to (1) assess health care professionals' need for and enthusiasm toward practicing using ultrasound via simulation and (2) gauge their perception and acceptance of simulation as an integral element of ultrasound education in medical curricula. METHODS: A day-long intervention was organized at the American University of Beirut Medical Center (AUBMC) to provide a free-of-charge interactive ultrasound simulation workshop-using CAE Vimedix high-fidelity simulator-for health care providers, including physicians, nurses, ultrasound technicians, residents, and medical students. Following the intervention, attendees completed an evaluation, which included 4 demographic questions and 16 close-ended questions based on a Likert scale agree-neutral-disagree. The results presented are based on this evaluation form. RESULTS: A total of 41 participants attended the workshop (46% [19/41] physicians, 30% [12/41] residents, 19% [8/41] sonographers, and 5% [2/41] medical students), mostly from AUBMC (88%, 36/41), with an average experience of 2.27 (SD 3.45) years and 30 (SD 46) scans per attendee. Moreover, 15 out of 41 (36%) participants were from obstetrics and gynecology, 11 (27%) from internal medicine, 4 (10%) from pediatrics, 4 (10%) from emergency medicine, 2 (5%) from surgery and family medicine, and 5 (12%) were technicians. The majority of participants agreed that ultrasound provided a realistic setting (98%, 40/41) and that it allowed for training and identification of pathologies (88%, 36/41). Furthermore, 100% (41/41) of the participants agreed that it should be part of the curriculum either in medical school or residency, and most of the participants approved it for training (98%, 40/41) and teaching (98%, 40/41). CONCLUSIONS: All attendees were satisfied with the intervention. There was a positive perception toward the use of simulation for training and teaching medical students and residents in using ultrasound, and there was a definite need and enthusiasm for its integration into curricula. Simulation offers an avenue not only for teaching but also for practicing the ultrasound technology by both medical students and health care providers.

Non-invasive assessment of placental perfusion in vivo using arterial spin labeling (ASL) MRI: A preclinical study in rats.

INTRODUCTION: Non-invasive assessment of placental perfusion is of great interest to characterize placental function in clinical practice. This article proposes a strictly non-invasive MRI technique using ASL to quantify placental blood flow in vivo. The aim of this study was to develop a fMRI tool to quantify placental blood flow (PBF) in rat, by using arterial spin labeling (ASL) MRI at 4.7 T. MATERIALS AND METHODS: MRI was performed with a dedicated magnet for small animals, in pregnant rats on day 20 of the 22-day gestation period. A Look-Locker flow-sensitive alternating inversion recovery gradient echo sequence was developed as ASL technique (TE: 1.55 ms; TR: 3.5 ms, TI: 56 ms, deltaTI: 56 ms, FA: 20°, Matrix: 128 × 128, 8 segments, 4 Nex). Labeling was performed with global and slice-selective inversions, and T1 map was obtained for each mode of inversion. PBF was then derived from a compartmental model of the variation of T1 between global and slice-selective inversions. RESULTS: The full protocol was completed and ASL image post-processing was successful in 18 rats. Forty-seven placentas were analyzed, with a mean PBF of 147 ±â€¯70 ml/min/100 g of placenta, consistent with published values of placental perfusion using invasive techniques. CONCLUSION: ASL MRI is feasible for the quantification of PBF in rats at 4.7 T. This technique, which requires no administration of contrast media, could have implications for non-invasive longitudinal and in vivo animal studies and may be useful for the management of human pregnancies.

Fetoscopic Release of Amniotic Bands Causing Limb Constriction: Case Series and Review of the Literature.

The aim of this study was to review the perioperative complication rates and neonatal outcomes after fetoscopic release of amniotic bands that caused bilateral limb constrictions. We present 5 cases of limb constriction by amniotic bands occurring spontaneously or following fetoscopic surgery and also include a review of 21 previously published cases. The cases were analyzed for indication, surgical technique, and postoperative follow-up. In our population and the literature, the majority of the children acquired a functional limb (75%), with few perioperative complications (15%). Fetal morbidity was mainly linked to the consequences of preterm premature rupture of the membranes (38.4%) and preterm birth (34.7 GW). The mortality rate was low (7.7%). This review only describes amniotic bands causing limb constriction, and illustrates that fetoscopic surgery for their release is technically feasible with an acceptable perioperative complication rate. However, the 75% success rate is very likely to be an overestimation of the true success rate. In view of these observations we cannot recommend treatment for cases where the fetus has been extensively affected by the bands. We believe, however, that we could consider this technique for a fraction of amniotic band syndrome cases isolated to the limb constrictions. This kind of surgery should be proposed as a potential treatment for amniotic band syndrome.

Placental mesenchymal dysplasia: An underdiagnosed placental pathology with various clinical outcomes.

BACKGROUND: Placental mesenchymal dysplasia (PMD) is a rare vascular and connective placental anomaly, which is often associated with severe fetal and/or maternal complications. The diversity of presentation of PMD challenges diagnosis and effective pregnancy management. OBJECTIVE: We aimed to review cases presenting at 7 tertiary centers worldwide over the last decade and to study the occurrence of obstetric and neonatal complications. STUDY DESIGN: Pathology databases from 7 tertiary hospitals were screened for cases of PMD (between 2007-2017). Pregnancy history, outcomes and ultrasound images were then reviewed for each case. RESULTS: Twenty-two cases of PMD were identified. Mean gestational age at diagnosis was 23 weeks (16-39 weeks). Prenatal biochemical screening was abnormal in 8 cases (36%). Of the 12 cases that underwent invasive genetic testing, 4 were abnormal. Six patients (27%) developed maternal complications (preeclampsia/gestational hypertension). Fetal growth restriction was identified in 11 cases (50%) and fetal death in 4 (18%). Four (18%) pregnancies were terminated, 9/14 (64%) delivered preterm and only three (14%) progressed normally. Fourteen babies were born alive; 5 (35%) died in the first sixty-one days after birth, 5 (35%) had transient thrombopenia and 1 (7%) had developmental delay at last follow-up. Our series identified four potential new associations with PMD: placental triploidy mosaicism, CHARGE syndrome, fetal pleuropulmonary blastoma and fetal skeletal dysplasia. CONCLUSIONS: PMD was substantially under-diagnosed before delivery in this cohort. Sonographers, fetal medicine specialists, obstetricians and pathologists should all suspect PMD in cases of an enlarged placenta and should look for fetal abnormalities. Diagnostic genetic testing should be discussed to exclude partial molar pregnancy. Close pregnancy follow-up is indicated due to the high risk of associated fetal or maternal adverse outcomes.

Ultrasound characteristics and outcome of prenatally diagnosed fetal cholelithiasis.

AIM: To investigate ultrasound characteristics and outcome in fetuses with cholelithiasis. MATERIALS AND METHODS: We report a small case series of three patients with prenatally diagnosed fetal cholelithiasis. Ultrasound features, pregnancy outcome and neonatal follow-up are presented and discussed. RESULTS: Sonographic pattern associated to fetal cholelithiasis is variable. Pregnancy issue is globally good with no ominous fetal or neonatal events. CONCLUSIONS: Prenatally diagnosed fetal cholelithiasis is a rare finding and doesn't seem to carry an adverse effect on the pregnancy.

Assessment of human placental perfusion by intravoxel incoherent motion MR imaging.

PURPOSE: To provide functional information on the human placenta, including perfusion, and diffusion, with no contrast agent injection, and to study correlations between intravoxel incoherent motion (IVIM) placental parameters and fetal growth. MATERIALS AND METHODS: MRI was performed in women undergoing legal termination of pregnancy at 17-34 weeks, including a 4-b-value and 11-b-value DW sequences. The apparent diffusion coefficient (ADC), the restricted diffusion coefficient (D), the pseudoperfusion coefficient (D*), and the perfusion fraction (f) were calculated. Their relationships with gestational age, Z-scores for fetal and placental weight were evaluated by means of regression analysis. Logistic regression analysis was used to assess the ability of IVIM parameters to predict/detect intrauterine growth retardation (SGA). RESULTS: Fifty-five pregnant women, including nine cases of SGA (16%), were included in the study. The ADC (n = 55) showed a quadratic correlation with gestational age (p < .001) and a linear correlation with the fetal weight Z-score (p = .02). Mean ADC values were significantly different between normally growing and SGA fetuses (2.37 ± 0.25 versus 2.29 ± 0.33 10-3.mm2.s-1, p=.048). The perfusion fraction f (n = 23) showed a quadratic correlation with gestational age (p = .017) and a linear correlation with the fetal weight Z - score (p = .008). Mean f values differed significantly between normally growing and SGA fetuses (42.55 ± 9.30% versus 27.94 ± 8.76%, p = .002). The receiver operating characteristics (ROC) curve for f to predict SGA was produced (area under the ROC curve = 0.9). CONCLUSIONS: The observed association between f and fetal weight suggests that fMRI could be suitable for studying placental insufficiency and for identifying risk of SGA.

When Are Trainees Ready to Perform Transvaginal Ultrasound? An Observational Study.

PURPOSE: The purpose of this study was two-fold: (1) To determine how the number of ultrasound scans a trainee has completed predicts the trainee's diagnostic accuracy when performing transvaginal ultrasound examinations, and (2) to examine the utility of simulation-based assessment of ultrasound competence for determining readiness for independently performing examinations. MATERIALS AND METHODS: 101 OB/GYN trainees were surveyed regarding their clinical experience and the number of scans they had completed. All participants completed five different cases on a transvaginal virtual-reality ultrasound simulator (Scantrainer, Medaphor). The participants' diagnostic accuracy was recorded and expert raters evaluated their performance using the Objective Structured Assessment of Ultrasound Skills (OSAUS) scale. The utility of simulation-based assessments was assessed with respect to reliability, validity, acceptability, and costs. The main outcome was diagnostic accuracy for five different ultrasound cases. RESULTS: Although the number of scans was associated with diagnostic accuracy (p = 0.006), it was a poor predictor (AUC 0.69) of diagnostic accuracy. Only 56.6 % (n = 34) of participants who had more than 100 transvaginal scans demonstrated a diagnostic accuracy of 0.80 or above. The reliability of the OSAUS assessments was high (ICC 0.82) and the majority of participants supported the use of simulation-based assessments for future licensing exams (70.3 %). The running costs of simulation-based assessments (154 EUR per participant) were lower than for practical examinations using real patients. CONCLUSION: The number of completed ultrasound scans was a poor predictor of the trainees' diagnostic accuracy. Instead, simulation-based assessments can be used to ensure that trainees are ready for independently performing future scans.

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

BACKGROUND: According to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS) techniques have significantly improved clinical diagnosis, compared to traditional sequencing methods. METHODS: A total of 213 analyses by NGS (167 by whole exome sequencing (WES) and 46 by multigene panels tests) were performed on pediatric patients across different regions of Lebanon over a period of two years (December 2015-December 2017). RESULTS: Neurological disorders were the most frequent referral demand for both WES and gene panels (122/213). Pathogenic, likely pathogenic, or variants of unknown significance were identified in 69.5% of the WES and panel patients combined. Over half of the patients with such variants had an autosomal recessive disorder. A definite molecular diagnosis (pathogenic or likely pathogenic variants) was achieved in 34.1% and 47.8% of the patients studied by WES and the multigene panels, respectively. Thirty-three novel variants were found in the cases that were molecularly solved; 26 of these being identified by WES and seven by the multigene panels. In three consanguineous families, autosomal recessive inheritance of genes previously reported as showing dominant inheritance patterns were found. Biallelism was found in six cases, digenism in four cases, and one case was trigenic. CONCLUSION: Our study thus suggests that NGS tools are valuable for an improved clinical diagnosis, and highlights that the increased adoption of such techniques will significantly further improve our understanding of the genetic basis of inherited diseases in Lebanon.

Impact of laser therapy for twin-to-twin transfusion syndrome on subsequent pregnancy.

OBJECTIVES: The objective of our study was to determine the impact of laser therapy for twin-to-twin transfusion syndrome (TTTs) on subsequent pregnancies. METHODS: This was a monocentric retrospective observational study. Women treated by laser fetoscopy for TTTs were asked to answer a postal questionnaire about subsequent pregnancies. The primary outcome was fecundity (number of pregnancies and time to pregnancy). We also assessed pregnancy complications, birth weight, and gestational age at delivery. Pregnancy complications included the following: threatened preterm labor, preeclampsia, placenta accreta, postpartum hemorrhage, and psychological disorders. Our study population was compared with an external control group made up of mothers of monochorionic twins without TTTs. RESULTS: We included 122 cases managed at the Necker Hospital between 2008 and 2012 and 39 controls. The median conception time was longer in the TTTs group (6.4 ± 11.1 versus 2 ± 1.6 months, P = .03). The numbers of live childbirths at the end of those pregnancies were equivalent (77.6% versus 66.7%, P = .56). Birth weight (3317 ± 726 versus 3240 ± 382 g, P = .81) and gestational age at delivery (38.2 ± 6.8 WG versus 39.5 ± 1.2 WG, P = .64) were similar, with no increase of obstetrical complications compared with the control group. DISCUSSION: Twin-to-twin transfusion syndrome and its treatment do not seem to impact subsequent pregnancies.