الملخص
Objetivo: estimar a prevalência de Aleitamento Materno Exclusivo (AME) entre gemelares pré-termos e investigar o efeito de nascer gemelar e pré-termo no AME na alta hospitalar. Método: coorte prospectiva de recém-nascidos em uma instituição localizada no Rio de Janeiro, no período de 13 de março de 2017 a 12 de outubro de 2018. Dados coletados em questionário e prontuário médico. Foi utilizado DAG para construção do modelo conceitual, análise exploratória dos dados e regressão logística múltipla. Resultados: a prevalência de AME na alta hospitalar de gemelares pré-termos foi de 47,8%. Pré-termos apresentaram maior chance de não estarem em AME na alta hospitalar. Não gemelares apresentaram maior chance de não estarem em AME na alta hospitalar. Conclusão: pouco mais da metade dos gemelares pré-termo não estavam em AME na alta hospitalar. Prematuros tiveram maior chance de não estarem em AME. Não gemelares pré-termo apresentaram maior chance de não estarem em AME.
Objective: to estimate the prevalence of Exclusive Breastfeeding (EBF) in preterm twins and to investigate the effect of twin and preterm birth on EBF at hospital discharge. Method: prospective cohort of newborns in an institution located in Rio de Janeiro, from March 13, 2017, to October 12, 2018. Data collected through a questionnaire and medical records. A DAG was used to build the conceptual model, exploratory data analysis and multiple logistic regression. Results: prevalence of EBF at hospital discharge of preterm twins of 47.8%. Preterm infants were more likely to not be on EBF at hospital discharge. Non-twins were more likely to not be on EBF at hospital discharge. Conclusion: just over half of preterm twins were not on EBF at hospital discharge. Preterm infants had a greater chance of not being on EBF. Preterm non-twins were more likely to not be on EBF.
Objetivo: estimar la prevalencia de Lactancia Materna Exclusiva (LME) entre gemelos prematuros y investigar el efecto de nacer gemelo y prematuro en la LME al momento del alta hospitalaria. Método: cohorte prospectiva de recién nacidos en una institución ubicada en Rio de Janeiro, entre 13//marzo/2017 y 12/octubre/2018. Los datos se recolectaron mediante cuestionario y expediente médico. Se utilizó DAG para la construcción del modelo conceptual, análisis exploratorio de los datos y regresión logística múltiple. Resultados: la prevalencia de LME en el alta hospitalaria de gemelos prematuros fue del 47,8%. Los prematuros tuvieron mayor probabilidad de no estar en LME en el alta hospitalaria. Los no gemelares tuvieron mayor probabilidad de no estar en LME en el alta hospitalaria. Conclusión: poco más de la mitad de los gemelos prematuros no estaban en LME en el alta hospitalaria. Los prematuros tuvieron mayor probabilidad de no estar en LME. Los no gemelos prematuros presentaron mayor probabilidad de no estar en LME.
الملخص
A conjoined twin is a complex process end-result considered to be caused by either delayed splitting of the fertilized ovum or fusion of the embryonic stem cells. Disorganization of mutant genes is believed to be a cause in some cases. Conjoined twins are described as having been physically fused during pregnancy and delivery. Division after 14th day of fertilization, results in an incomplete division, because once it becomes an embryo, it is incapable of fusion. The later the division, the more severe the effect. Conjoined twins were first mentioned a long time ago when there was not much known about this. They share some organs that are vital for survival, like the heart; these twins are almost impossible to save, but there are some cases wherein there is evidence of their survival. Current technology is providing a basis for earlier diagnosis and a better prognosis. MRI and CT scan provide excellent anatomic details later in pregnancy, demonstrating organ position, shared viscera, and vascular anatomy. We present a case of live Terata Catadidyma (which refers to twins joined in the lower portion of their body, or they may appear to be two bodies on top and one body on the bottom), diagnosed at 7 weeks and 3 days by non-invasive ultrasonography, hardly reported previously so early in the literature. This reported conjoined twin were having defect in occipital region of neurocranium (forming calvarium) which should have produced encephalocele later. So, early diagnosis inflicts much less physical and psychological trauma to parents concerning viability and pregnancy outcome in long run.
الملخص
Previable preterm premature rupture of membranes (PPROM) between 14 and 24 weeks of gestation complicates < 1% of pregnancies. Previable PPROM in dichorionic diamniotic (DCDA) twin pregnancies are even rarer, and there is no consensus in the literature on outcomes and management due to scarcity of reports. With the recent advances in obstetrics and neonatal care, expectant management is a ray of hope for such precious pregnancies. We presented a case report of a 27 years old lady with previous two abortions with an IVF conceived DCDA twin pregnancy. We were able to extend the latency period by 95 days with our expectant management with favourable outcomes both mother and the baby. To the best of our knowledge, this is the longest case of successful expectant management of IVF conceived twins with PV-PPROM reported in India.
الملخص
Objective:To study the clinical characteristics and risk factors of necrotizing enterocolitis (NEC) in one of the premature twins.Methods:A retrospective study was conducted on twin premature infants who were admitted to the Department of Neonatology at the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2022 and only one got NEC. The twins were divided into NEC group and control group, the clinical data were collected and analyzed by SPSS 26.0 statistical software.Results:This study enrolled 109 pairs of premature twins, 109 cases in the NEC group, and 109 cases in the control group. Univariate analysis showed that birth weight, pre NEC white blood cell count were lower in NEC group than those in the control group, while the proportion of smaller than gestational age (SGA), donor of twin-to-twin transfusion syndrome, feeding intolerance, incomplete enteral feeding, start feeding time >48 h, red blood cell transfusion 72 h before NEC onset and the neutrophils ratio were higher in the NEC group than that of the control group, the difference was statistically significant ( P<0.05). Multivariate logistic analysis showed that low birth weight ( OR=1.558, 95% CI1.197-2.142), SGA ( OR=1.721, 95% CI 1.217-2.536), feeding intolerance ( OR=3.798, 95% CI 1.347-10.706), and incomplete enteral feeding ( OR=4.319, 95% CI 1.673-11.149) were independent risk factors for NEC ( P<0.05). Conclusions:Low birth weight, small for gestational age, feeding intolerance, and incomplete enteral feeding are independent risk factors for NEC in one of the premature twins.
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As a “double-edged sword” in emerging medical science and technology， medical digital twins not only bring good news to clinical diagnosis and treatment， but also have a certain impact on the medical ethics system. This paper mainly discussed the ethical risks and challenges involved in the application of digital twins technology in the medical field， such as the scientificity and effectiveness of simulation experimental results， the autonomy of both doctors and patients， issues of privacy and life safety， and potential social injustice. Starting from the four principles of bioethics， such as respect， benefit， non-harm， and justice， this paper analyzed the current situation and explored prevention and treatment countermeasures or suggestions for solving the ethical issues of medical digital twins， with a view to achieving timely， accurate， and effective detection， prevention， and control， to better promote the rational development， innovative application， and healthy development of digital twins technology in the medical field.
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@#Objective To determine different patterns of fetal growth dissonance in twin pregnancies and their predictive role in obstetric adverse outcomes.Methods The medical records of 531cases of twin-pregnancy women who underwent labor examination and delivery in our hospital from January 2014 to december 2021 were retrospectively analyzed.According to the ultrasound parameters during the prenatal examination,the inconsistencies between twins were divided into four modes:mode 1:no significant inconsistencies group(268cases),Mode 2:early progressive inconsistencies(23cases),mode 3:early inconsistencies with plinosis(91cases)and mode 4:late inconsistencies(149cases).The dynamic changes of each model and its correlation with adverse outcomes were investigated.Results Pattern 2 and Pattern 3 inconsistencies>10%(20.5 and 20.7 weeks of gestation)and>20%(27.7 and 26.3weeks of gestation)occurred at similar times.Mode 2 had the highest rate of inconsistent progression(0.92%/week),which peaked at 23.7%at 36weeks of gestation.Mode 3 progressed at a slower rate(0.49%/week),with a smaller variance after 20weeks(from 13.3%at 20weeks to 16%at 36weeks).The onset time of pattern 4 inconsistencies was>10%at 29.8weeks of gestation,and the peak inconsistencies(14.8%)were lower than pattern 2 and pattern Using mode 1(no significant inconsistency)as a reference,after adjusting for relevant covariates,mode 2 and 3 were risk factors for preterm birth and preeclampsia at 34 and 32weeks of gestation,mode 2 was a risk factor for 5-minute Apgar score<7,and mode 2,3,and 4 were risk factors for newborn birth weight<10th percentile.Conclusion According to the occurrence,development and intensity of neonatal growth dissonance,four different dissonance patterns were identified to be associated with different obstetric outcomes.These models provide more predictive information than the single point in time when measurements of fetal size are inconsistent,which is commonly used.
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ABSTRACT Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.
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Monoamniotic twins are identical twins sharing the same amniotic sac and placenta, with two separate umbilical cords. Although uncommon, monoamniotic twins are associated with high antenatal and perinatal morbidity and mortality. We present here a series of three cases of monoamniotic twin gestations with fetal complications who delivered in our hospital over a period of one month. Our first case Mrs. ABC with 33 weeks of gestation with Monoamniotic twins presented with twin anemia polycythemia sequence, second case, Mrs XYZ presented as primigravida with 35 weeks of gestational age with monoamniotic twins with severe preeclampsia presented with Cord entanglement who went into postpartum hemorrhage and was conservatively managed for the same. Our third case, Mrs. DEF G2P1L1 with previous scar 1.5 years back with 23 weeks of gestation with monoamniotic twins presented with Twin reversal arterial perfusion sequence and underwent medical termination of pregnancy.
الملخص
Fetal reduction is a novel method that aims to reduce a higher-order gestation to lower-order pregnancy to reduce both maternal and perinatal adverse outcomes. One of the methods of fetal reduction is by intracardiac injection of KCl under ultrasound guidance. Here, we present a case series ofeight women who had undergone fetal reduction. All of them were trichorionic triamniotic triplets at the time of reduction. In seven women, the reduction was done to twin gestation, whereas one reduction was to singleton pregnancy. Out of eight cases, only one carried to full term and underwent vaginal delivery. One case was lost to follow-up and 2 women underwent expulsion. A total of nine live births were reported with 8 babies going to the neonatal intensive care unit for low birth weight and preterm care. Fetal reduction is an important method that needs to be widely practiced and reported to improve maternal and perinatal outcomes in multifetal gestation.
الملخص
Background: Twin pregnancies are found to be associated with greater risks to the mother and the babies. The normal length of gestation for an average pregnancy is around 40 weeks however in multiple pregnancies (twins, triplets, quadruplets, etc) it is usually shorter.Methods: A prospective observational study of women with twin pregnancy was carried out in a tertiary care hospital, in Maharashtra, from October 2020 to October 2022 with the purpose to assess the maternal and neonatal outcomes. 100 women with twin pregnancies who were registered to the hospital were selected for the study as per the inclusion and exclusion criteria.Results: 64% of women with twin pregnancies were in the age group of 21-30 years. Most of them had pregnancy as a result of the spontaneous type of conception. It was found that the vaginally delivered twins (20%) were at gestational age above 37 weeks and 8% at less than 32 weeks. 38% of twins were delivered by LSCS (elective LSCS 6% and emergency LSCS 38%). The gestational age at the time of delivery was found as 35-37 weeks (Mean 盨D 36 � 1.2). 46% of neonates were shifted to NICU. The incidence of low birth weight and respiratory distress was more in babies born at 37 weeks and below. It was also observed that the as gestational age increased the perinatal deaths decreased.Conclusions: Regular follow-up of women with twin pregnancies is necessary for attainment of positive outcomes.
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Diprosopus is an extremely rare form of conjoined twins which is found in newborns where there is partial or complete duplication of face. The etiology and pathophysiology remain unknown and no genetic mutations have definitively associated with the condition so far. This article described a case of an infant born at 33.4 weeks gestation with multiple congenital anomalies including diprosopus tetraophthalmos and discussed the possible hypothesis and implications of prenatal diagnosis.
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Background: In modern obstetrics with advanced ultrasonographic techniques and color Doppler, multiple pregnancy and associated condition like chorionicity, growth discordance, vascular complications, twin to twin transfusion syndrome, intrauterine death of one or more fetus and congenital anomalies can now be diagnosed at early stage of gestation. Vigilant obstetric care during antepartum, intrapartum and postpartum period decreases maternal morbidity and mortality as well as improves fetal outcome in twin pregnancy.Methods: This is a randomized prospective study of 250 patients of multiple pregnancy admitted at our institute from July 2020 to June 2022 including all emergency as well as registered patients. In all cases a detailed history was taken and all routine investigations were done. All information was entered in a proforma and the fetomaternal outcome of twin pregnancy was analysed.Results: Around 67% patients had onset of labor after 32 weeks of gestation, rest 32% patients had onset of labor at or before 32 weeks of gestation. The 55% patients underwent lower segment caesarean section and 45% patients delivered vaginally. We observed highest incidence of twins in age group 21-30 years. Maximum number of patients 59% were multigravida compared to primigravida.Conclusions: Multiple pregnancy is considered as “high risk pregnancy”. hence early diagnosis of multiple pregnancy is essential in reducing maternal and perinatal morbidity and mortality.
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A perfusão arterial reversa gemelar é uma anormalidade rara que pode ocorrer em gestações gemelares monocoriônicas. Consiste em uma alteração na circulação fetoplacentária, com desvio de sangue de um dos gemelares para o outro, por meio de anastomoses arterioarteriais e venovenosas na superfície placentária e anastomoses arteriovenosas em áreas de circulação placentária compartilhada. O feto bombeador pode desenvolver insuficiência cardíaca devido ao aumento do débito cardíaco, e o feto receptor, perfundido por sangue pobre em oxigênio por meio do fluxo reverso, é severamente malformado, incompatível com a vida extrauterina. Este artigo apresenta o caso de uma gestação gemelar monocoriônica diamniótica, com manejo clínico conservador. O objetivo é relatar um caso de complicação rara de gestações monozigóticas e revisar condutas para diagnóstico e manejo adequado.(AU)
Twin reverse arterial perfusion is a rare abnormality that can occur in monochorionic twin pregnancies. It consists of an alteration in the fetal-placental circulation, with blood diversion from one of the twins to the other, through arterio-arterial and veno- venous anastomosis on the placental surface and arterio-venous anastomosis in areas of shared placental circulation. The pumping fetus may develop heart failure due to increased cardiac output, and the recipient fetus, perfused by oxygen-poor blood through reverse flow, is severely malformed, incompatible with extrauterine life. This article presents the case of a monochorionic diamniotic twin pregnancy, with conservative clinical management. The objective is to report a case of rare complication of monozygotic pregnancies and review procedures for diagnosis and adequate management.(AU)
الموضوعات
Humans , Female , Pregnancy , Infant, Newborn , Pregnancy Complications/physiopathology , Arteriovenous Anastomosis/abnormalities , Umbilical Arteries/abnormalities , Congenital Abnormalities/diagnostic imaging , Pregnancy, High-Risk , Twinning, Monozygotic , Fetofetal Transfusion/complications , Brazil , Placental Circulation , Fetal Death , Fetal Monitoring , Umbilical Cord Clamping , Obstetric Labor, Prematureالملخص
Objective:To study the incidences of complications in twins with birth weight discordance (BWD) during hospitalization.Methods:From January 2011 to December 2020, twins born in the Department of Obstetrics and hospitalized in NICU of our hospital were retrospectively studied. Twins with BWD>15% were assigned into BWDT group and BWD≤15% into twins with birth weight concordant (BWCT) group. Complications during hospitalization were compared between the two groups.Results:A total of 1 546 pairs of twins were enrolled, including 486 (31.4%) in BWDT group and 1 060 (68.6%) in BWCT group. Compared with BWCT group, BWDT group had significantly higher incidences of pulmonary surfactant (PS) utilization (47.7% vs. 42.2%), continuous positive airway pressure ≥ 24 h (40.5% vs. 35.0%), high-flow nasal cannula ≥ 24 h (22.8% vs. 16.3%), neonatal respiratory distress syndrome (52.9% vs. 47.1%), bronchopulmonary dysplasia (BPD) (15.6% vs. 11.1%), persistent pulmonary hypertension of the newborn (3.1% vs. 1.4%) and anemia (79.6% vs. 70.1%) (all P<0.05). After adjusting for confounding factors, the risks of pulmonary hemorrhage ( OR=2.036, 95% CI 1.119-3.703, P=0.020) and BPD ( OR=2.960, 95% CI 1.656-5.219, P=0.010) in BWDT group were higher than BWCT group. Conclusions:BWD twins has higher incidences of complications during hospitalization than BWC twins.
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Objective:To evaluate the systolic function of 24 segments in dichorionic diamniotic (DCDA) twin pregnancy by fetal heart qualification (fetal HQ) analysis, and to compare the difference with singleton pregnancies.Methods:Thirty-one cases of DCDA twin pregnancy (observation group) and 100 cases of singleton pregnancy (control group) matched in gestational age were enrolled. They underwent perinatal health care in the Third Affiliated Hospital of Zhengzhou University from February 2022 to February 2023.Fetal HQ was applied to track endocardial motion trajectories and automatically calculate the global strain (GS), fractional area change (FAC) and fractional shortening (FS) of 24 segments of left and right ventricles in order to compare the difference between DCDA fetuses and singleton fetuses. One case of twins with growth discordance were selected to demonstrate the utility of this technique.Results:①There were no statistically significant differences in GS, FAC and 24-segments FS of left and right ventricles between the two fetuses in the observation group (all P>0.05). ②The LV-FS of segments 1-10 were higher in the observation group than the control group, and the differences were statistically significant (all P<0.05). However, there were no statistically significant differences in GS and FAC of left and right ventricles, LV-FS of segments 11-24 and RV-FS of segments 1-24 between the observation group and the control group (all P>0.05). The intraclass correlation coefficient(ICC) was greater than 0.75, indicating good repeatability. ③Two fetuses with discordant growth in dichorionic diamniotic twins had abnormal FS in some segments of the left and right ventricles. Conclusions:Fetal HQ technology could easily and reliably evaluate fetal heart function in DCDA pregnancy with good repeatability. The changes of fetal cardiac function in twin pregnancy did not always follow the same pattern as in singleton pregnancy. The related data of singleton pregnancy should not be blindly used in the clinical management and scientific research of twin pregnancy.
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To summarize the experience of perinatal nursing for 27 days of delayed delivery of the second fetus of a twin pregnancy with placenta previa.Key nursing points include:the start of high risk warning during delayed delivery,and being alert to placenta previa hemorrhage;effective prevention of infection,reducing the incidence of maternal sepsis and chorioamnionitis;actively inhibiting the contractions to prolong gestational age and improving the perinatal survival rate of the second fetus;strengthening in utero fetal monitoring,identifying the early signs of fetal distress;targeted implementation of personalized psychological nursing,to ensure the mental health of patients.The rescue plan during delivery should be improved to ensure the safety of mother and child.Postpartum prevention and treatment of massive bleeding was actively conducted,as well as the prevention of puerperal infection.After 79 d of active treatment and intensive nursing care,the patient was treated and discharged from the hospital without any signs of infection or a massive bleeding.The second newborn,whose delivery was delayed,was discharged from the hospital 59 d after birth,and the follow up was continued for a month until the reach to the standard growth development parameters and the overall physical examination was good.
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Urorectal septum malformation sequence (URSMS) is a rare congenital complex malformation characterized by severe abnormalities in the urinary, reproductive and digestive systems. It is difficult to diagnose URSMS by prenatal ultrasound due to its complex and variable manifestations. This paper reported a twin with partial URSMS. Prenatal ultrasound findings included pelvic "trilobe" cystic masses, sacrococcygeal hemivertebral malformations, imperforate anus, and transient ascites. Postnatal examination confirmed the diagnosis of URSMS, as the baby girl was born with anal atresia. Her colon, urethra, and vagina converged and formed a common tract with a single perineal opening. The baby died after her parents' refusal to surgical treatment.
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Objective:To study the factors influencing transient hypothyroxinemia (TH) in one premature twin.Methods:This retrospective study enrolled 283 sets of preterm twins who were born at the gestational age of 26-36 weeks and admitted to the Neonatology Department of the Second Affiliated Hospital of Wenzhou Medical University from June 2009 to September 2021. The levels of thyroxine (T 4), triiodothyronine (T 3) and thyroid stimulating hormone (TSH) were detected at 11-20 d after birth. Finally, 47 sets of twins were further analyzed, in which one twin met the diagnostic criteria of TH (TH group, n=47) and the other twin with exclusion of the diagnosis (control group, n=47). Pearson correlation was used to analyze the correlation of T 4 with gestational age and birth weight. Paired t test, Wilcoxon signed-rank test or McNemar test, and conditional logistic regression were used to analyze the factors influencing TH in premature twins. Results:The gestational age and birth weight of the 47 sets of preterm twins (94 cases) were (31.4±2.3) weeks (26-36 weeks) and (1 611.9±389.3) g (800-2 510 g), respectively. There were 35 sets of dizygotic twins, 11 sets of monozygotic twins, and one set of twins with unknown zygosity. The serum T 4 level in premature infants was positively correlated with the gestational age and birth weight (the correlation coefficients were 0.209 and 0.376, respectively, both P<0.05). Univariate analysis showed that compared with the control group, the factors influencing TH in premature infants ( P<0.1) included female [29.8% (14/47) vs 14.9% (7/47), χ2=3.27 ], bronchopulmonary dysplasia [31.9% (15/47) vs 19.1% (9/47), χ2=3.13], birth weight [(1 547.9±348.0) vs (1 676.0±420.5) g, t=－3.61], white blood cell count [(10.0±3.3)×10 9/L vs (10.9±3.3)×10 9/L, t=－2.19] and vitamin D level [(42.8±12.1) vs (45.9±16.6) nmol/L, t=－1.76]. The data on vitamin D were incomplete and after excluding the factor, the logistic regression showed that female was a risk factor ( OR=18.388 95% CI: 1.317-256.743); while higher birth weight was a protective factor ( OR=0.996, 95% CI: 0.993-0.999). In order to exclude the influence of monozygotic twins on gender, 11 sets of monozygotic twins and one set with unknown zygosity were excluded from multivariate analysis. The results suggested that female was a risk factor ( OR=18.527, 95% CI: 1.209-283.820), while higher birth weight was a protective factor ( OR=0.996, 95% CI: 0.992-1.000). Conclusion:Female and birth weight are the factors influencing TH at 11-20 d after birth in one preterm twin.
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Objective:To summarize the clinical manifestations, treatment and outcome of neonatal pseudo-Bartter syndrome caused by maternal hyperemesis gravidarum.Methods:This retrospective study collected the clinical data of a set of premature twins with pseudo-Bartter syndrome who were admitted to Hebei Children's Hospital in September 2022. Clinical features of the cases were summarized with descriptive analysis.Results:The twins born with a gestational age of 30 +3 weeks required tracheal intubation and mechanical ventilation due to premature birth and respiratory distress. They were transferred to our hospital 2 h after birth. The mother suffered from hyperemesis gravidarum and even had severe vomiting complicated by hypokalemia 3 d before delivery. The blood gas analysis of the twins at 2 h after birth showed severe metabolic alkalosis, hyponatremia, hypokalemia, hypochloremia and hyperlactatemia. Hyperglycemia appeared at 6 h after birth, and scleredema neonatorum at 24 h after birth. No significant abnormalities were found in the tandem mass spectrometer analysis of blood or urine samples. Whole-exome sequencing showed no abnormalities in the genes related to the phenotype. The twins were diagnosed with neonatal pseudo-Bartter syndrome. After symptomatic and supportive treatment, metabolic alkalosis and electrolyte disorders in the twins were completely resolved 4 d after birth. They were cured and discharged 51 d after birth without recurrence. Follow-up revealed no abnormalities in the physical or neurological development of the twins at 11 months after birth. Conclusions:Maternal hyperemesis gravidarum can lead to neonatal pseudo-Bartter syndrome, characterized by severe metabolic disorders as well as respiratory and circulatory dysfunction at the early stage after birth. Timely diagnosis and treatment are conducive to good prognosis in the affected neonates.
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Objective:To investigate the clinical, genetic, and pathological features of nemaline myopathy type 8 (NEM8) caused by KLHL40 gene variation. Methods:The clinical data, gene sequencing results, and musculoskeletal pathophysiology of two cases (a pair of twins) with NEM8 admitted to our hospital in July 2022 were collected. CNKI, VIP, Wanfang, Yiigle, PubMed, Embase, and Web of Science Database were searched with the English and Chinese terms "nemaline myopathy type 8", "nemaline body myopathy type 8", and " KLHL40" from January 2007 to February 2023. The clinical, genetic, and musculoskeletal characteristics of the NEM8 cases were summarized using the descriptive statistical analysis method. Results:(1) Case report: The mother (G2P2) of the twins (Ⅳ-2 and Ⅳ-3) was conceived by IVF-embryo transfer and delivered at 37 +1 gestational weeks. The two cases were dizygotic twins whose maternal grandmother had lip and palate cleft. The first baby (Ⅳ-1) of the woman exhibited absent left pinna, contracture at the end of both fingers, talipes equinovarus in both feet and died of respiratory failure two hours after birth. Fetal edema and fetal movement delay in the twins and varus right foot in one twin were found during pregnancy. Both cases developed intrapartum asphyxia with the clinical manifestations of generalized muscle weakness, respiratory failure, dysphagia, multiple joint contractures, and fractures. The families withdrew the treatment and the twins died after maintaining life with ventilators for 53 days after birth. Whole exome sequencing of the pedigree found c.1779G>T (p.W593C) homozygous variants of the KLHL40 gene in the twins and c.1779G>T (p.W593C) heterozygous variants of the KLHL40 gene in the parents, both were de novo. Musculoskeletal pathophysiology indicated that muscle fibers are thin and round with a fetal shape and absent rod. (2) Literature review: Among the 29 cases of NEM8, including two current cases and 27 cases retrieved from 15 papers, eight cases terminated the pregnancies, and 21 were live births; seven cases (24.1%) with positive family history; 19 cases (65.5%) were found with abnormalities during pregnancy, including abnormal fetal movements, polyhydramnios, joint contracture, and fetal edema. Of the 21 live births, 20 cases had intrapartum asphyxia, 21 had postnatal respiratory failure, 20 had generalized muscle weakness, and 19 had dysphagia. Among the 29 cases, 17 cases (58.6%) were homozygous variants of the KLHL40 gene, and 12 cases (41.4%) were compound heterozygous variants. The detection rate of c.1516A>C(p.Thr506Pro) was the highest [72.4% (21/29)], followed by c.602G>A(p.Trp201*) [17.2% (5/29)]. Out of the 15 cases who underwent musculoskeletal pathological examination, all had abnormal muscle fiber size and morphology; 10 cases had rods. Conclusions:NEM8 should be considered for those with abnormal fetal movements, polyhydramnios, joint malformation, fetal edema during the fetal period and failure to establish respiration at birth as well as postnatal generalized muscle weakness, respiratory failure, dysphagia, multiple joint contractures, and fracture. Moreover, genetic detection should be performed as soon as possible. NEM8 can be diagnosed in ones with KLHL40 gene homozygous or compound heterozygous variants and musculoskeletal pathological results of abnormal size and shape of muscle fibers, regardless of the presence of rods.