Monochorionic Research Articles

Identification of risk factors for necrotizing enterocolitis in twins: a case-control matching analysis of over ten-years' experience.

The identification of risk factors is crucial for the clinical prevention and diagnosis of necrotizing enterocolitis (NEC). Monochorionic twins (MCT), due to the high genetic homogeneity, provided a valuable model for investigating the risk factors of various diseases. This study aimed to explore the risk factors for NEC using MCT. A retrospective review was conducted on the medical records of monochorionic twins (MCT) treated at Guangzhou Women and Children's Medical Center from January 2012 to March 2023. We compared perinatal condition, feeding and preceding condition between MCT pairs with NEC (NEC MCT) and without NEC(No NEC MCT).Logistic regression analysis was utilized to identify independent risk factors. In 85 pairs of monochorionic twins (MCT), NEC occurred in one twin in 78.8% of cases, whereas both twins were affected in 21.2% of cases. In the final cohort of 60 pairs of MCT, several parameters were found to differ significantly between NEC MCT group and No NEC MCT group. Compared to No NEC MCT group, the incidence of umbilical cord abnormalities was significantly higher in the NEC MCT group (25% vs. 8.3%, P = 0.014). Meanwhile, NEC MCT group showed higher prevalence of SGA infants (48.3% vs. 21.7%, P = 0.002) and sFGR (38.3% vs. 6.7%, P = 0.000). Furthermore, TTTs (13.3% vs. 3.3%, P = 0.027) and septicemia (25% vs. 5%, P = 0.002) were more common in NEC MCT group. In a multivariable logistic regression model, sFGR (OR 6.81,95%CI 2.1-21.9, p = 0.001) was eventually output as an independent risk factor. Non-genetic factors play a predominant role in the pathogenesis of NEC. Umbilical cord abnormalities, SGA, sFGR, TTTs and septicemia significantly increase the risk of NEC. sFGR is an independent risk factor of NEC.

Increased risk of persistent pulmonary hypertension of the newborn in twin anaemia polycythaemia sequence donors.

Introduction This study aimed to describe the prevalence and risk factors for respiratory complications in monochorionic twins with twin anaemia polycythaemia sequence (TAPS). Methods All neonates diagnosed with postnatal TAPS at our centre between 2002 and 2023 were included in this retrospective study. The primary outcome was the prevalence of respiratory complications, including respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD) and persistent pulmonary hypertension of the newborn (PPHN). Secondary outcomes included need of respiratory support during admission and a risk-factor analysis for adverse respiratory outcome. Results In our study of 100 postnatally diagnosed TAPS pregnancies, 32% (62/199) experienced RDS and 13% (25/199) had BPD, with no difference between donors and recipients. PPHN occurred in 7% of cases, more frequently in donors (11%, 11/100) than in recipients (3%, 3/100) (OR = 1.3, 95%CI 0.2-2.6). Lower gestational age at birth and severe fetal anaemia were found to be significant independent risk factors associated with PPHN in TAPS twins (OR = 0.3, 95%CI 0.1-0.5), respectively (OR = 1.9, 95%CI 0.8-3.1). Conclusion TAPS donor twins have a four-fold increased risk of PPHN due to anaemia compared to recipient twins. Given the life-threatening nature of PPHN, TAPS twins should be born in hospitals equipped to treat it.

Development and validation of an ultrasound-based estimated fetal weight reference for Chinese twin pregnancy: a retrospective cohort study

BackgroundFetal growth monitoring is important for twin pregnancies. However, there has been no clinically validated tool for monitoring fetal growth of twin pregnancies in China. This study aims to develop and validate a chorionicity-specific growth chart of ultrasound estimated fetal weight (EFW) for Chinese twin pregnancies.MethodsThis retrospective cohort study included all twin pregnancies who delivered two live fetuses with gestational age ≥ 34 weeks without severe obstetric complications at a tertiary hospital from January 2007 to March 2021. The participants were divided into a development set (delivered in or before December 2017) and a validation set (delivered in or after January 2018). Chorionicity-specific growth charts were created using the generalized additive models for location, scale, and shape (GAMLSS) based on the development set. The fetuses from the validation set were classified into three groups based on the last EFW: small-for-gestational-age (SGA) indicated by both the newly established twin charts and the Hadlock singleton chart currently used for twin pregnancies in China, suspected SGA indicated by only the singleton chart, and no SGA indicated by either chart. The incidence of neonatal outcomes among the three groups was then compared accordingly, including intensive care unit (NICU) stay length, respiratory diseases, and neurological disorders.ResultsThe development set included 883 twin pregnancies and a total of 6374 EFW measurements between 16 and 38 weeks of gestation, and the validation set included 801 twin pregnancies and 7630 EFW measurements. In the development set, monochorionic diamniotic (MCDA) twins had a significantly lower EFW compared to dichorionic diamniotic (DCDA) twins beginning at 26 weeks, with the difference gradually increasing thereafter, supporting the establishment of chorionicity-specific growth charts. Of the 1,602 twin neonates in the validation set, 103 (6.4%) were classified into the SGA group, 164 (10.2%) into the suspected SGA group, and 1335 (83.3%) into the no SGA group. The incidence of respiratory diseases and neurological disorders was comparable between the suspected SGA group and the no SGA group, but apparently higher in the SGA group. Meanwhile, NICU stay lengths were consistently longer for twins in the SGA group compared to the no SGA group (difference: 0.57, 95% CI: 0.31–0.83), with no significant differences observed between the suspected SGA and no SGA groups.ConclusionsThe fetal growth trajectories differed by chorionicity, with a lower EFW for MCDA twins beginning at 26 weeks. The establishment of chorionicity-specific growth chart could reduce overdiagnosis of SGA and improve fetal growth monitoring of twin pregnancies.

Catheter ablation in a monochorionic diamniotic twin pregnancy: A case report and literature review.

Preexcitation syndrome is an uncommon congenital cardiac disorder that impairs the normal cardiac conduction system. Radiofrequency ablation is one of the most effective treatments for this condition. Nevertheless, radiofrequency ablation is rare in women with preexcitation syndrome during pregnancy. A 33-year-old woman with monochorionic diamniotic twin pregnancy complicated by sinus arrhythmia with ventricular preexcitation at 14 weeks and 5 days of gestation, with paroxysmal palpitations and shortness of breath at 16 weeks with paroxysmal supraventricular tachycardia with preexcitation syndrome and a heart rate ranging from 180 to 225 beats per minute. The pregnant occurred sudden palpitations and shortness of breath in the shower. Electrocardiography revealed paroxysmal supraventricular tachycardia, and electrophysiological study revealed preexcitation syndrome (dominant accessory route of the left free wall) with atrioventricular reentrant tachycardia. Radiofrequency catheter ablation was performed at 20 weeks. Symptoms of preexcitation syndrome resolved after the radiofrequency catheter ablation, and 2 healthy infants were delivered at 36 weeks and 2 days of gestation by cesarean section. Preexcitation syndrome may result in life-threatening arrhythmias such as supraventricular tachycardia during pregnancy and delivery. It might be efficiently controlled through optimal treatment by a multidisciplinary team, which would effectively minimize arrhythmia risk events during pregnancy and improve maternal-fetal outcomes. Based on the patient's individual situation, radiofrequency ablation may be a procedure in pregnant women with preexcitation syndrome.

Chorionicity and Psychomotor Development From Infancy to Childhood: The Japan Environment and Children's Study.

Twins lag behind singletons in their early psychomotor development, but little is known about how chorionicity affects this difference. We compared early psychomotor development in singletons, monochorionic (MC) twins and dichorionic (DC) twins. Our longitudinal data from the Japan Environment and Children's Study (JECS; see Appendix) included 98,042 singletons, 577 MC twins and 1051 DC twins representing the general Japanese population. Chorionicity was evaluated by ultrasound images and complemented by postnatal pathological examinations. Five domains of psychomotor development were evaluated at 6 time points from 6 months to 3 years of age using the Ages and Stages Questionnaires (ASQ-3). The data were analyzed using linear regression models. Twins lagged behind singletons in all areas of psychomotor development during infancy. This gap decreased over time but was still noticeable at 3 years of age. More than half of this difference was attributed to twins having lower birth weight and being born earlier in gestation. MC twins showed slightly delayed development compared to DC twins, but this difference was minor compared to the overall gap between twins and singletons. Twins delay singletons in their early psychomotor development, and this delay is not specific to MC twinning.

Validation of Fetal Medicine Foundation charts for fetal growth in twins: nationwide Danish cohort study.

To assess the validity of the Fetal Medicine Foundation (FMF) chorionicity-specific models for fetal growth in twin pregnancy. This was an external validation study of the FMF models using a nationwide Danish cohort of twin pregnancies. The cohort included all dichorionic (DC) and monochorionic diamniotic (MCDA) twin pregnancies with an estimated delivery date between 2008 and 2018, which satisfied the following inclusion criteria: two live fetuses at the first-trimester ultrasound scan (11-14 weeks' gestation); biometric measurements available for the calculation of estimated fetal weight (EFW) using the Hadlock-3 formula; and delivery of two liveborn infants. Validation involved assessing the distributional properties of the models and estimating the mean EFW Z-score deviations. Additionally, the models were applied to pregnancies that delivered preterm and attended non-scheduled visits (complicated pregnancies). Overall, 8542 DC and 1675 MCDA twin pregnancies met the inclusion criteria. In DC twins, 17 084 fetuses were evaluated at a total of 95 346 ultrasound scans, of which 44.5% were performed at scheduled visits in pregnancies carried to 37 + 0 weeks or later. The median number of growth scans per DC twin fetus from 20 + 0 weeks onwards was four. The model showed good agreement with the validation cohort for scheduled visits in DC twins delivered at 37 + 0 weeks or later (mean EFW Z-score, -0.14 ± 1.05). In MCDA twins, 3350 fetuses underwent 31 632 eligible ultrasound scans, of which 59.5% were performed at scheduled visits in pregnancies carried to 36 + 0 weeks or later. The median number of growth scans per MCDA twin fetus from 16 + 0 weeks onwards was 10. The model showed favorable agreement with the validation cohort for scheduled visits in MCDA twins delivered at 36 + 0 weeks or later (mean EFW Z-score, -0.09 ± 1.01). Non-scheduled visits and preterm delivery before 37 + 0 weeks for DC twins and before 36 + 0 weeks for MCDA twins corresponded with smaller weight estimates, which was consistent with the study's definition of complicated pregnancy. The FMF models provide a good fit for EFW measurements in our Danish national cohort of uncomplicated twin pregnancies assessed at routine scans. Therefore, the FMF models establish robust criteria for subsequent investigations and potential clinical applications. Future research should focus on exploring the consequences of clinical implementation, particularly regarding the identification of twins that are small-for-gestational age, as they are especially susceptible to adverse perinatal outcome. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Features of placental angioarchitectonics with favorable and unfavorable outcome after laser coagulation of placental anastomoses

Background. One of the most common and severe complications of monochorionic pregnancy is feto-fetal transfusion syndrome (FFTS). The incidence of transfusion syndrome in monochorial diamniotic twins ranges from 10 to 15%.Objective. To analyze the angioarchitecture of the placenta in FFTS, to determine its features with a favorable and unfavorable outcome after laser coagulation of placental anastomoses (LPCA).Materials and methods. Continuous prospective, cohort, comparative study 90 pregnant women with monochorionic diamniotic twins were examined: in 60 people (the main group) the pregnancy was complicated by FFTS, in 30 patients (the comparison group) the pregnancy was characterized by a normal course; their newborns and afterbirths. The main group was divided into 2 subgroups depending on the outcome of LCPA in order to correct FFTS: subgroup 1 — favorable outcome (n=50), subgroup 2 — unfavorable outcome (n=10). Result. The angioarchitecture of the placenta in FFTS with a favorable outcome of LCPA is characterized by the presence of large arteriovenous placental anastomoses in combination with “central-central” and “central-marginal” variants of umbilical cord attachment. A larger number of anastomoses is recorded in monochorionic twins with FFTS and vascular patterns with two or more arteriovenous anastomoses (“Type B” and “Type D”), in our study they were more common with an unfavorable outcome of laser coagulation of placental anastomoses (OR = 5.23 (95%CI 2.13;12.8);p<0.001).Conclusion. Angioarchitectonics of the placenta in feto-fetal transfusion syndrome with a favorable outcome of laser coagulation of placental anastomoses is characterized by the presence of large arteriovenous placental anastomoses in combination with “central-central” and “central-marginal” variants of umbilical cord confluence.

Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome.

This study aims to elucidate two distinct fetal ultrasound features associated with aberrant brain sulcus formation as potential prenatal markers for Sotos syndrome caused by mutations in the NSD1 gene. This retrospective study investigated three fetuses across two pregnancies, including a pair of monochorionic diamniotic twins, all diagnosed with Sotos syndrome via whole exome sequencing (WES). Comprehensive clinical and laboratory data were collected and analyzed. Each fetus underwent a series of specialized neurosonographic assessments to evaluate the development of the cerebral cortex. All three fetuses exhibited aberrant brain sulcus formation characterized by Sylvian fissure (SF) abnormalities and shallow parietooccipital sulcus (POS). WES revealed the presence of two de novo NSD1 variants in these fetuses. Fetal aberrant brain sulcus formation may represent a distinctive ultrasound feature indicative of Sotos syndrome, thereby offering additional diagnostic insights for the identification of this condition.

Selective Extrauterine Placental Perfusion in Monochorionic Twins Is Feasible-A Case Series.

Monochorionic (MC) twins are at risk for severe twin-to-twin transfusion syndrome (TTTS) or twin anemia-polycythemia sequence (TAPS). In the case of preterm delivery, cesarean section (CS) with immediate umbilical cord clamping (ICC) of both twins is usually performed. While the recipient is at risk for polycythemia and may benefit from ICC, this procedure may result in aggravation of anemia with increased morbidity in the anemic donor. The purpose of this study was to demonstrate that the novel approach of selective extrauterine placental perfusion (EPP) with delayed umbilical cord clamping (DCC) in the donor infant is feasible in neonatal resuscitation of MC twins and may prevent severe anemia in donor and polycythemia in the recipient. Preterm MC twins with antenatal suspected severe anemia of the donor as measured by Doppler ultrasound, born with birthweights < 1500 g by CS, were transferred to the neonatal resuscitation unit with placenta and intact umbilical cords. In the donor, the umbilical cord was left intact to provide DCC with parallel respiratory support (EPP approach), while the cord of the recipient was clamped immediately after identification. Selective EPP was performed in three cases of MC twins with TAPS and acute peripartum TTTS. All donor twins had initial hemoglobin levels ≥ 13.0 g/dL, and none of them required red blood cell transfusion on the first day after birth. Selective EPP may be a feasible strategy for neonatal resuscitation of MC preterm twins with high stage TAPS and TTTS to prevent anemia-related morbidities and may improve infant outcome.

A rare cause of respiratory distress in preterm infants: a case report of acquired subglottic cysts

BackgroundThe Subglottic Cysts (SGCs) are a rare cause of respiratory distress in infants. Typical risk factors include male gender, extreme prematurity, gastro-oesophageal reflux and invasive ventilation, the latter being associated with mucosal damage and blockage of the subglottic cysts’ ducts. We describe a case of acquired subglottic cysts in a premature infants presented with respiratory distress.Case presentationA premature male infant was born at 25 weeks + 2 days with a history of monochorionic diamniotic twin pregnancy with twin-to-twin transfusion syndrome. During hospitalization, invasive mechanical ventilation was necessary for a total of 18 days; the patient was discharged at postmenstrual age of 40 weeks + 1 day in good condition. At 43 weeks post-menstrual age, he presented to our department with mixed stridor and worsening of respiratory dynamics. A laryngotracheoscopy evaluation was performed. The exam showed the presence of multiple SGCs causing an almost complete obstruction of the airway. Because of the significant reduction of the airway’s patency, the child underwent a tracheotomy and thereafter cysts’ removal using cold steel microinstruments. A better airway patency was restored although a slight glottic edema persisted. The histopathology confirmed the benign nature of the lesions. Successive controls showed a completely patent airway and absence of SGCs.ConclusionIn conclusion, SGCs should be considered in preterm infants with respiratory distress previously intubated, which cannot be explained by the most common causes. Early diagnosis and treatment are fundamental to reducing the morbidity and mortality associated with this disease.

Twin-to-Twin Transfusion Syndrome in a Dichorionic Diamniotic Pregnancy with Unusual Ultrasound Findings

Abstract Introduction/Objective Twin-to-twin transfusion syndrome (TTTS) is a complication of twin gestations which affects approximately 1-3 per 10,000 births and is most commonly observed in monochorionic diamniotic twins. The authors present a rare case of TTTS occurring in dichorionic diamniotic twins and literature review. Methods/Case Report The patient was initially found to have a twin pregnancy at 12 weeks of gestation with ultrasound findings suggestive of monochorionic diamniotic twins, but subsequent ultrasounds demonstrated a twin- peak sign, indicating a dichorionic diamniotic gestation. Her pregnancy was subsequently complicated by the discovery of TTTS at 26 weeks of gestation leading to her hospitalization for inpatient fetal surveillance and amnioreduction. She was discharged in stable condition. However, despite close follow-up, there was ultimately intrauterine demise of Twin B (donor twin) at 30 weeks and 6 days gestational age. There were no other complications during the course of pregnancy. Examination of the placenta at autopsy was consistent with a dichorionic diamniotic pregnancy with anastomoses within the fused placenta and evidence of prolonged oligohydramnios by presence of amnion nodosum, supporting the clinical and sonographic findings of TTTS. Results (if a Case Study enter NA) NA Conclusion In summary, this is a rare case of TTTS occurring in a dichorionic diamniotic twin gestation with clinical, sonographic, and pathologic findings. Only five cases have been reported thus far in the literature.

Lysteria Monocytogenes Infection during Monochorionic Twin Pregnancy: Case Report and Review of the Literature.

Listeriosis is a rare but severe foodborne disease caused by Listeria Monocytogenes (LM), a small facultative intracellular bacillus. When occurring in pregnant women, it can be vertically transmitted to the fetus and the newborn. Infected women usually display aspecific and mild symptoms, and rarely develop the severe forms of the disease (such as neurolisteriosis). On the contrary, fetal and neonatal listeriosis can lead to complications such as fetal loss, preterm birth, neonatal sepsis, and respiratory distress syndrome (RDS). Prompt diagnosis is one of the main challenges because of the aspecific presentation of the disease; therapy relies on antibiotics that reach high intracellular concentration and can penetrate and pass the placenta reaching the fetus. Herein we report an infrequent case of LM infection involving a woman with monochorionic diamniotic twin pregnancy, followed by a comprehensive review of the available literature on listeriosis in pregnancy.

Fetal MRI findings, etiology, and outcome in prenatally diagnosed schizencephaly.

Schizencephaly is a rare brain anomaly which is increasingly detected in utero. There are limited data on the etiology and outcomes in fetal schizencephaly to guide workup and counselling. We aim to determine the associated imaging findings, etiology, and outcomes in schizencephaly detected in utero. This retrospective cohort study included 22 fetuses with a total of 34 schizencephaly defects identified by keyword search of fetal MRI reports from 1996-2022 followed by image review. Follow-up fetal and postnatal imaging, when available, were reviewed. Data on demographics, etiology, and outcomes were extracted from the electronic medical record. The schizencephaly defect was open in 28/34, most common in the MCA territory (23/34), and commonly involved the frontal (16/34) lobe. Additional intracranial abnormalities were seen in all fetuses including other cortical malformations (CM, 13/22), abnormal posterior fossa (12/22), abnormal corpus callosum (10/20), and intraparenchymal hemorrhage (9/22).The cause of schizencephaly was classified as secondary (as evidenced by intraparenchymal hemorrhage at schizencephaly, monochorionic twin gestation, infection, or maternal/placental risk factor) in 64% (14/22), potentially genetic in 9% (2/22), and unknown in 27% (6/22). Among those liveborn (n=8), the following outcomes were observed: postnatal death (1/8), tube feeding (1/7), shunted hydrocephalus (1/7), epilepsy (4/7). Among those >1 year of age, cerebral palsy (4/5) and speech delay or intellectual disability (3/5) were common. CM remote from schizencephaly was associated with epilepsy (p=0.03). On postnatal imaging, open defects often involuted (8/11) and there were high rates of new/additional findings (4/6). In this cohort, fetal schizencephaly was always associated with additional intracranial abnormalities. In most cases, there was evidence that schizencephaly was likely secondary to prior injury. Imaging characteristics may provide clues regarding neurodevelopmental outcome. Postnatal imaging is crucial in assessing evolution as well as for detection of additional abnormalities. ICH = intracranial hemorrhage; CM = cortical malformation; VM = ventriculomegaly; DGN = deep grey nuclei; SP = septum pellucidum; IPH = intraparenchymal hemorrhage; CC = corpus callosum; PMG = polymicrogyria; PVNH = periventricular nodular heterotopia; TTTS = twin-twin transfusion syndrome; GA = gestational age; CP = cerebral palsy.

Prenatal ultrasound detection of fetal amniotic band ingestion in monochorionic diamniotic twin pregnancy: a rare case report

BackgroundAmniotic Band Syndrome (ABS) is a rare congenital condition characterized by the formation of fibrous bands within the amniotic sac that can entangle and restrict fetal development, leading to various deformities. In this report, we present an unprecedented case of fetal amniotic band ingestion in a monochorionic diamniotic (MCDA) twin pregnancy. Reporting this case is essential for expanding the understanding of the diverse presentations of amniotic bands, considering this rare entity in the differential diagnosis of prenatal ultrasound findings, and emphasizing the importance of vigilant prenatal monitoring and individualized management strategies.Case PresentationA 35-year-old gravida 2, para 1 woman with an MCDA twin pregnancy experienced an uneventful pregnancy until the 33rd week, when routine ultrasonography revealed mild intrauterine growth restriction in both twins. At 35 weeks and 5 days gestation, the patient presented with mild abdominal pain. An emergency ultrasound revealed that Twin A ingested an amniotic band. Despite the absence of overt fetal distress, a comprehensive risk assessment was conducted, taking into account potential complications, such as airway obstruction and gastrointestinal issues due to prolonged amniotic band ingestion. Considering the risks versus the benefits of continued gestation and the near-term status, an emergency cesarean section was performed. The procedure resulted in the successful delivery of both twins with satisfactory Apgar scores. A 9-cm fibrous strand was promptly extracted from Twin A’s oral cavity after delivery, confirming prenatal diagnosis. Both neonates underwent thorough examinations, revealing no additional anomalies, and demonstrated normal development during the nine-month follow-up.ConclusionThis case highlights the inherent challenges in diagnosing and managing the rare presentations of amniotic band-related complications, particularly in MCDA twin pregnancies. The instance of fetal amniotic band ingestion underscores the vital role of comprehensive prenatal imaging in ensuring accurate diagnosis and tailoring individualized risk assessments throughout the pregnancy in such rare and complex situations.

Like and share: A mixed-methods cross-sectional survey of social media use during monochorionic diamniotic twin pregnancies

ProblemMonochorionic-diamniotic (MCDA) twin pregnancies are high-risk, requiring specialized monitoring and procedures to screen for and treat potential complications. AimThis study examined decisions to use social media among those who have experienced MCDA pregnancies and how these groups influenced treatment and management decisions for these rare, complicated pregnancies. MethodsAn online mixed-methods, retrospective survey, was completed in 2021 by 624 participants who experienced MCDA pregnancies within 5 years of the study; participants were recruited from online MCDA pregnancy groups on Facebook and Twitter. Data was analyzed using descriptive statistics and thematic analysis. FindingsSixty-nine percent of participants used social media to communicate during their MCDA pregnancies, an 18 increase from before pregnancy, and most (74.2 %) used online support groups during pregnancy. Thematic analysis revealed participants used social media primarily to find others with similar experiences, learn more about MCDA pregnancies, and obtain guidance. Most would also recommend joining social media during a similar pregnancy. Nearly half indicated that social media influenced MCDA pregnancy management and treatment decisions - like decisions regarding birth plans, providers, and MCDA-related complications. Several participants cautioned that support groups can be triggering when negative stories are shared. ConclusionSocial media can provide information, support, and improve advocacy for those experiencing MCDA pregnancies. Providers may consider online groups as another source of support for pregnant people and be prepared to address questions that may arise. This study also reveals opportunities for increased and/or improved patient educational materials and patient-provider communication related to MCDA pregnancies.

Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

BackgroundThe recommended diet attitude in the recently described galactose mutarotase (GALM) deficiency is not yet established. We describe two 9-years twins who remain asymptomatic despite prolonged partial dietary liberalization from 18 months of age, after two periods of galactose-free diet. It represents the second report in Europe of GALM deficiency.Case presentationTwo male monochorionic diamniotic twins were detected through newborn screening by galactosuria and increased total blood galactose. They started galactose dietary restriction with biochemical normalization. After exclusion of the three previously described types of galactosemia, a progressively galactose reintroduction was initiated. The clinical follow-up developed include neurological assessment and intelligence quotient, annual ophthalmological evaluation and biannual abdominal ultrasound; whereas the biochemical assessment comprises quarterly determinations of galactose 1-phosphate and galactosuria and annual determination of liver and renal function, 25-OH-vitamin D and calcium levels. Sanger sequencing of GALM gene was complemented by the study of gene dose using SNPs array and a protein modeling to study the conformational changes induced in GALM protein. In both siblings a novel and complete deletion of exon 4 in GALM gene was detected. Both remained asymptomatic, with normal growth and intellectual development, despite dietary liberalization. Evolutionarily, the biochemical profile in blood remained normal with intermittent galactosuria.ConclusionsThe absence of clinical involvement after 7 years of dietary liberalization is interesting to expand the knowledge about the recommended dietary management in this pathology.

Specific growth velocity reference charts for monochorionic twin pregnancies.

We aimed to create specific growth velocity reference charts for monochorionic (MC) twin pregnancies and provide additional information for assessing fetal growth in MC twins. This retrospective study collected data from uncomplicated MC twins with serial ultrasound parameters. The four ultrasound parameters, including biparietal diameter, femur length, head circumference, and abdominal circumference, were used to calculate the estimated fetal weight (EFW). Multilevel linear regression models were applied to fit growth velocity charts for each biometric parameter and EFW. Analysis of variance was used to examine differences in birthweight by whether EFW velocity and EFW values were <10th or ≥10th percentiles. The final analysis encompassed a total of 5956 ultrasound examinations conducted on 487 MC twins. The growth velocity of four biparietal diameters exhibited a gradual decrease in a nearly linear fashion progressing from 18 to 37 gestational weeks. The EFW velocity increased steadily from 18 to 36 gestational weeks, reaching a peak of 178.2 g/week, and then the velocity gradually decreased until delivery. At 32 weeks for illustration, the lightest birth weight was observed when both EFW and EFW velocity were <10th percentile (1899 g). The study also found that birth weight was higher when EFW velocity was ≥10th percentile compared with <10th percentile, regardless of EFW being below or above the 10th percentile (2263 and 1906 g, respectively; P < 0.001). We developed specific growth velocity reference charts for MC twins, which could provide a valuable reference point for a more precise evaluation of fetal growth in MC twins. Preliminary findings indicate that the inclusion of fetal growth velocity in monitoring fetal growth provides additional information beyond EFW alone.

Innovative study of the fetal heart in monochorionic multiple births

Introduction. Fetal echocardiography is currently one of the main methods of prenatal diagnosis. However, in recent years, attention has shifted towards the use of ultrasound to assess fetal myocardial function.The aim of this study is compare global longitudinal deformation of the myocardium of the left (LV) and right ventricles (RV) of the heart in fetuses with uncomplicated singleton pregnancy, in fetuses from monochorionic twins with transfusion syndrome, selective growth retardation and in uncomplicated monochorionic multiple pregnancy.Material and methods. A prospective cohort study was conducted which included 60 pregnant patients: Group I — patients with an uncomplicated singleton pregnancy (n=25); Group II — 35 patients with monochorionic diamniotic twins, whose pregnancy in 10 cases was complicated by feto-fetal transfusion syndrome (stages I-III according to Quintero R.A.), in 10 cases — selective growth retardation of the second fetus and in 15 cases monochorionic twins without complications. The following parameters were determined: global longitudinal deformation (GLD) of the myocardium of the ventricles of fetal hearts using the speckle tracking method of ejection fraction (EF), end-diastolic and end-systolic volumes of the ventricles of the heart.Results. Significant differences were established in GLD of RV and LV between singleton and monochorionic multiple pregnancies (LV: -21.2 ± 2.03 versus -23.41 ± 0 .25, p = 0.003); RV: — 20.3 ± 2.5 versus -23.3 ± 2.5, p = 0.013). Significant differences were revealed in GLD of the LV and RV in recipient fetuses before and after laser coagulation of placental anastomoses (LPCA) [LV in recipients before LCPA (- 20.4 ± 2.98) versus LV recipient after LCPA (-24.2 ± 3.3), p = 0.018], [RV in recipients before LKPA (- 20.4 ± 2.8) vs. RV in recipients after laser coagulation of placental anastomoses (-23.7 ± 3.4, p = 0.012].Conclusion. Assessment of the cardiac function of fetuses from monochorionic twins using the echocardiographic speckle tracking technique makes it possible to identify early changes in fetal myocardial function in twins from monochorionic diamniotic twins, as well as to carry out reliable testing monitoring changes in cardiac function over time.

The Role of Chorionicity in Placenta-Related Disorders

Introduction: Twin pregnancy is associated with higher rates of maternal morbidities including gestational diabetes and hypertension. Dichorionic twins are believed to have greater placental mass. Our objective was to study the incidence of two placenta-related disorders: gestational diabetes and hypertension, in dichorionic versus monochorionic twin pregnancies. Methods: Patients’ data of all consecutive twin pregnancies over a period of 12 years were collected from medical records. Data on chorionicity were retrieved from 1st trimester ultrasound reports. Maternal complications including gestational hypertension and diabetes were collected, and incidence was compared between dichorionic and monochorionic twin pregnancies. Records lacking chorionicity data and cases with pregestational diabetes were excluded. Results: A total of 960 twin pregnancies, 121 monochorionic and 839 dichorionic, were included. Average maternal age did not differ significantly between the groups. The median gestational age at delivery was 36.0 weeks in monochorionic and 36.7 in dichorionic twins. Primiparity (40.4% vs. 23.1%, p < 0.001) and the rate of infertility treatments (51.5% vs. 7.4%, p < 0.001) were both more common in the dichorionic group. The incidence of gestational hypertension disorders was 14% in monochorionic versus 11% in dichorionic twins (p = 0.36). Gestational diabetes was more common in dichorionic compared to monochorionic twins (9.4% and 2.5%, respectively); however, logistic multivariate analysis showed that gestational diabetes was highly correlated with maternal age (p < 0.001) and infertility treatments (p < 0.001) but not with chorionicity (p = 0.136). Conclusion: Our results may imply that greater placental mass does not increase the risk for gestational hypertension and diabetes. This might support the role of additional multiple maternal factors associated with these complications.

Selective Fetal Growth Restriction: Parts of Pathogenesis

Monochorionic diamniotic twin gestations have a higher risk of perinatal complications than both dichorionic twins and singleton pregnancies. One of the complications of multiple pregnancies is selective fetal growth restriction (sFGR), the incidence of which varies from 10 to 25%. sFGR is a condition of twin pregnancy in which the development of one fetus is restricted, despite normal growth of the other fetus; one of the fetuses is supplied with insufficient nutrient and oxygen content through the placenta to grow at a normal rate. The pathogenesis of sFGR has a multifactorial nature, including disorders of trophoblast invasion, vasculo- and angiogenesis, gestational formation of the placenta with discordant separation of intertwin territories and unbalanced blood flow through interfetal anastomoses oxidative stress, growth factor imbalance, and changes in the metabolomic profile of cord blood and placental tissue. The prenatal diagnosis of sFGR is sometimes problematic and it is not possible to find all the cases. A more detailed study of the various predictors of the occurrence of sFGR will allow the discovery of new markers that will help in early diagnosis, determining the optimal management for pregnancy and predicting perinatal outcome.