A 32 year old woman at 22 weeks gestation underwent fetal magnetic resonance imaging (MRI) after an ultrasound detected corpus callosum agenesis. MRI confirmed complete agenesis and showed an enlarged left temporal lobe, moderate ventriculomegaly, and abnormal hippocampal orientation. The fetal MRI scoring system indicated a poor prognosis. MR tractography revealed abnormal neuronal connections. Parents were counseled and the pregnancy was terminated due to poor prognosis. This case highlights the value of fetal MRI and tractography in assessing agenesis of the corpus callosum and guiding clinical decisions.
{"title":"Agenesis of Corpus Callosum in a Fetus at 22 Weeks: Role of MRI Based Scoring and MR Tractography in Clinical Decision Making","authors":"N. Ghonge","doi":"10.1055/s-0044-1788300","DOIUrl":"https://doi.org/10.1055/s-0044-1788300","url":null,"abstract":"A 32 year old woman at 22 weeks gestation underwent fetal magnetic resonance imaging (MRI) after an ultrasound detected corpus callosum agenesis. MRI confirmed complete agenesis and showed an enlarged left temporal lobe, moderate ventriculomegaly, and abnormal hippocampal orientation. The fetal MRI scoring system indicated a poor prognosis. MR tractography revealed abnormal neuronal connections. Parents were counseled and the pregnancy was terminated due to poor prognosis. This case highlights the value of fetal MRI and tractography in assessing agenesis of the corpus callosum and guiding clinical decisions.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141814808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renal corticomedullary differentiation (CMD) is a crucial indicator of fetal renal health and is detectable as early as 15 to 16 weeks of gestation. Abnormalities in CMD, such as accentuation or loss, may signal underlying renal diseases. CMD assessment via prenatal ultrasound evolves dynamically throughout gestation, reflecting changes in cortical echogenicity and cystic structures. While CMD alterations can indicate conditions like glomerulonephritis or obstructive uropathies, they also offer prognostic insights into future renal function. This case report highlights the importance of early detection and comprehensive evaluation of CMD for optimising prenatal renal care.
{"title":"Corticomedullary Differentiation in Fetal Kidneys: A Necessary Evil?","authors":"Ashutosh Gupta, A. Aneja, Neena Bahl, Rupam Arora, Loveleena Nadir, Pankaj Saini","doi":"10.1055/s-0044-1787665","DOIUrl":"https://doi.org/10.1055/s-0044-1787665","url":null,"abstract":"Renal corticomedullary differentiation (CMD) is a crucial indicator of fetal renal health and is detectable as early as 15 to 16 weeks of gestation. Abnormalities in CMD, such as accentuation or loss, may signal underlying renal diseases. CMD assessment via prenatal ultrasound evolves dynamically throughout gestation, reflecting changes in cortical echogenicity and cystic structures. While CMD alterations can indicate conditions like glomerulonephritis or obstructive uropathies, they also offer prognostic insights into future renal function. This case report highlights the importance of early detection and comprehensive evaluation of CMD for optimising prenatal renal care.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141815644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Noninvasive prenatal testing (NIPT) is a highly specific and sensitive aneuploidy screening method with low false positive results. Sex chromosome aneuploidy (SCA) is not picked up in prenatal ultrasounds, as they may not have antenatally identifiable features, except for hydrops in monosomy X cases. Women with high risk NIPT results for SCAs are recommended to go for invasive prenatal diagnosis for confirmation by diagnostic tests like chromosome microarray, karyotyping, and/or fluorescence in situ hybridization (FISH). We present two cases that showed a high risk for monosomy X on NIPT. Chromosomal microarray was negative for SCA. Further, FISH was done to confirm the results and confirm the presence of low level mosaicism for monosomy X. FISH proves to be the test of choice to detect low level mosaicism in high risk NIPT cases with high positive predictive values.
无创产前检测（NIPT）是一种高度特异性和敏感性的非整倍体筛查方法，其假阳性结果很低。性染色体非整倍体（SCA）不会在产前超声波检查中被发现，因为它们可能没有产前可识别的特征，但 X 单体症的水肿除外。建议 NIPT 结果为高风险 SCA 的妇女进行侵入性产前诊断，通过染色体微阵列、核型和/或荧光原位杂交（FISH）等诊断测试进行确认。我们介绍了两例在 NIPT 中显示为高风险 X 单体的病例。染色体微阵列检测结果显示SCA阴性。事实证明，FISH 是检测高风险 NIPT 病例低水平嵌合的首选检测方法，具有很高的阳性预测值。
{"title":"Detecting Mosaicism of Monosomy X Using FISH in Prenatal Samples: Post High Risk NIPT","authors":"Shiva Murarka, Debaashish Biswas, Samarth Bhatt, Krishna Mistry, U. Kotecha, Parth Shah, Sheetal Sharda","doi":"10.1055/s-0044-1787015","DOIUrl":"https://doi.org/10.1055/s-0044-1787015","url":null,"abstract":"Noninvasive prenatal testing (NIPT) is a highly specific and sensitive aneuploidy screening method with low false positive results. Sex chromosome aneuploidy (SCA) is not picked up in prenatal ultrasounds, as they may not have antenatally identifiable features, except for hydrops in monosomy X cases. Women with high risk NIPT results for SCAs are recommended to go for invasive prenatal diagnosis for confirmation by diagnostic tests like chromosome microarray, karyotyping, and/or fluorescence in situ hybridization (FISH). We present two cases that showed a high risk for monosomy X on NIPT. Chromosomal microarray was negative for SCA. Further, FISH was done to confirm the results and confirm the presence of low level mosaicism for monosomy X. FISH proves to be the test of choice to detect low level mosaicism in high risk NIPT cases with high positive predictive values.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141270007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Komal Rangholiya, Pruthviben K. Ponkiya, P. Desai, B. Chauhan, S. Patel
A 23 week pregnant woman with a history of a child with facial and limb malformations underwent a fetal ultrasound revealing similar abnormalities in the current fetus. Genetic testing confirmed a new IRF6 gene mutation consistent with popliteal pterygium syndrome type 1. This case highlights the potential for recurrence and the role of genetic testing in prenatal diagnosis.
{"title":"Case Report of Recurrent Popliteal Pterygium Syndrome","authors":"Komal Rangholiya, Pruthviben K. Ponkiya, P. Desai, B. Chauhan, S. Patel","doi":"10.1055/s-0044-1787057","DOIUrl":"https://doi.org/10.1055/s-0044-1787057","url":null,"abstract":"A 23 week pregnant woman with a history of a child with facial and limb malformations underwent a fetal ultrasound revealing similar abnormalities in the current fetus. Genetic testing confirmed a new IRF6 gene mutation consistent with popliteal pterygium syndrome type 1. This case highlights the potential for recurrence and the role of genetic testing in prenatal diagnosis.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141272099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
To report our experience with the management of prenatally diagnosed cases of congenital high airway obstruction syndrome (CHAOS) and the postnatal outcome of those who underwent an ex utero intrapartum treatment (EXIT) procedure. This is a single center, retrospective observational study of prenatally diagnosed CHAOS cases using two-dimensional ultrasound from December 2017 to December 2022 in a tertiary care facility. Of the total nine fetuses prenatally diagnosed with CHAOS, three (33.3%) were associated with multiple congenital anomalies, seven out of nine (77.8%) developed ascites, and one had fetal hydrops. Five (55.6%) underwent medical termination of pregnancy and two were lost to follow-up (22.2%). The remaining two continued pregnancy and required EXIT tracheostomy at the time of delivery (22.2%). Microarray was performed in both which was normal. Postnatally, both infants are tracheostomy dependent with one requiring frequent ventilator support. CHAOS even when isolated generally has poor prognosis without intervention. Performing an EXIT procedure at birth can significantly improve postnatal survival by minimizing hypoxic damage. However, the long-term medical and surgical challenges for survivors remain numerous especially speech disorders, even after lifesaving fetal intervention and surgical correction. Therefore, an accurate prenatal diagnosis is necessary to give the couple an option of continuing pregnancy after realistic counseling regarding the prognosis and postnatal outcome.
{"title":"Prenatally Diagnosed Congenital High Airway Obstruction Syndrome: Perinatal Management and Outcome—A Single Tertiary Care Center Experience","authors":"Khushboo Malhotra, Rinshi Abid Elayedatt, Rahul Ashok Mahajan, Vivek Krishnan","doi":"10.1055/s-0044-1786361","DOIUrl":"https://doi.org/10.1055/s-0044-1786361","url":null,"abstract":"To report our experience with the management of prenatally diagnosed cases of congenital high airway obstruction syndrome (CHAOS) and the postnatal outcome of those who underwent an ex utero intrapartum treatment (EXIT) procedure. This is a single center, retrospective observational study of prenatally diagnosed CHAOS cases using two-dimensional ultrasound from December 2017 to December 2022 in a tertiary care facility. Of the total nine fetuses prenatally diagnosed with CHAOS, three (33.3%) were associated with multiple congenital anomalies, seven out of nine (77.8%) developed ascites, and one had fetal hydrops. Five (55.6%) underwent medical termination of pregnancy and two were lost to follow-up (22.2%). The remaining two continued pregnancy and required EXIT tracheostomy at the time of delivery (22.2%). Microarray was performed in both which was normal. Postnatally, both infants are tracheostomy dependent with one requiring frequent ventilator support. CHAOS even when isolated generally has poor prognosis without intervention. Performing an EXIT procedure at birth can significantly improve postnatal survival by minimizing hypoxic damage. However, the long-term medical and surgical challenges for survivors remain numerous especially speech disorders, even after lifesaving fetal intervention and surgical correction. Therefore, an accurate prenatal diagnosis is necessary to give the couple an option of continuing pregnancy after realistic counseling regarding the prognosis and postnatal outcome.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141098656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Congenital fetal oral mass is a very rare entity. A correct ultrasound-based approach on the anatomic location, consistency, and vascularity will help us to narrow down the differentials antenatally but a confirmed diagnosis can be made by histopathological examination postnatally. We describe a case of a fetal oral cyst diagnosed antenatally at 20 weeks of gestation. On follow-up, fetal growth and amniotic fluid volume were normal with no changes in the size or the position of the cyst. The cyst was excised on the first neonatal day. Histopathology was consistent with a mucocele.
{"title":"A Rare Case of Prenatal Diagnosis and Management of Fetal Oral Cystic Mass","authors":"Raksha Shivaramegowda, Arati Singh, Vinitra Dayalan, Geeta Kolar","doi":"10.1055/s-0044-1786168","DOIUrl":"https://doi.org/10.1055/s-0044-1786168","url":null,"abstract":"Congenital fetal oral mass is a very rare entity. A correct ultrasound-based approach on the anatomic location, consistency, and vascularity will help us to narrow down the differentials antenatally but a confirmed diagnosis can be made by histopathological examination postnatally. We describe a case of a fetal oral cyst diagnosed antenatally at 20 weeks of gestation. On follow-up, fetal growth and amniotic fluid volume were normal with no changes in the size or the position of the cyst. The cyst was excised on the first neonatal day. Histopathology was consistent with a mucocele.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141001530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rahul Ashok Mahajan, R. Elayedatt, Khushboo Malhotra, V. Krishnan
Edwards' syndrome (trisomy 18) is the second most common aneuploidy known in humans, with an overall incidence of 1 in 6,000 live births. It occurs due to the presence of complete or part of an extra copy of chromosome 18 in all or a few body cells of the affected fetus, and it causes major anomalies in the organ systems. Despite this, an accurate diagnosis is often not made antenatally due to its very varied phenotype and the subtle nature of some of the common and consistent findings associated with this condition. This leads to lapses or delays in cytogenetic confirmation as well as delays in decision regarding termination of pregnancies with this mostly lethal fetal aneuploidy. We describe the prenatal profile of 45 confirmed cases of trisomy 18 at a tertiary fetal medicine unit. The presence of a combination of ultrasound (US) findings described in these cases will help alert sonologists and clinicians to suspect this condition and offer a confirmative cytogenetic test without delay for prenatal diagnosis. This study describes the prenatal diagnostic profile of cytogenetically confirmed trisomy 18 cases in a tertiary fetal medicine center in India. A retrospective analysis of records of 45 prenatally diagnosed trisomy 18 cases at a single tertiary fetal medicine center over a period of 11 years was done. Data were collected to describe maternal demography, indication for evaluation, major and minor US findings (trimester-wise), type of invasive test, and gestational age at diagnosis. Outcomes in terms of pregnancy termination, miscarriage, stillbirth, or livebirth were documented. Presenting at a mean maternal age and gestation age of 31.7 years and 22 + 5 weeks, respectively, 41/45 (91%) fetuses showed major and 40/45 (89%) showed minor US findings with an overall US sensitivity of 100%. The most common major US finding was a cardiac anomaly in 26 (57.8%) patients, while clenched fist with pointing index finger, observed in 17 (37.8%) cases, was the most common minor US finding. Fetal growth restriction (FGR) was noted in 20 (44.4%) patients. After cytogenetic confirmation, 37.8% underwent termination, 17.8% had a fetal demise, and only 11.1% had live birth with the longest survival noted at 5.5 months postnatally. Gender was documented in 13 fetuses with a male-to-female ratio of 0.6. A meticulously performed US examination can detect a combination of anomalies that could alert the sonologist to the possibility of trisomy 18. While the US profile could vary among fetuses, an understanding of the spectrum of the anomalies commonly seen in these fetuses would enable caregivers to reach an early accurate diagnosis, and offer appropriate genetic counseling and pregnancy decisions in these cases.
{"title":"Trisomy 18: Prenatal Diagnosis and Outcome in a Tertiary Care Fetal Medicine Center in South India","authors":"Rahul Ashok Mahajan, R. Elayedatt, Khushboo Malhotra, V. Krishnan","doi":"10.1055/s-0044-1786355","DOIUrl":"https://doi.org/10.1055/s-0044-1786355","url":null,"abstract":"Edwards' syndrome (trisomy 18) is the second most common aneuploidy known in humans, with an overall incidence of 1 in 6,000 live births. It occurs due to the presence of complete or part of an extra copy of chromosome 18 in all or a few body cells of the affected fetus, and it causes major anomalies in the organ systems. Despite this, an accurate diagnosis is often not made antenatally due to its very varied phenotype and the subtle nature of some of the common and consistent findings associated with this condition. This leads to lapses or delays in cytogenetic confirmation as well as delays in decision regarding termination of pregnancies with this mostly lethal fetal aneuploidy. We describe the prenatal profile of 45 confirmed cases of trisomy 18 at a tertiary fetal medicine unit. The presence of a combination of ultrasound (US) findings described in these cases will help alert sonologists and clinicians to suspect this condition and offer a confirmative cytogenetic test without delay for prenatal diagnosis. This study describes the prenatal diagnostic profile of cytogenetically confirmed trisomy 18 cases in a tertiary fetal medicine center in India. A retrospective analysis of records of 45 prenatally diagnosed trisomy 18 cases at a single tertiary fetal medicine center over a period of 11 years was done. Data were collected to describe maternal demography, indication for evaluation, major and minor US findings (trimester-wise), type of invasive test, and gestational age at diagnosis. Outcomes in terms of pregnancy termination, miscarriage, stillbirth, or livebirth were documented. Presenting at a mean maternal age and gestation age of 31.7 years and 22 + 5 weeks, respectively, 41/45 (91%) fetuses showed major and 40/45 (89%) showed minor US findings with an overall US sensitivity of 100%. The most common major US finding was a cardiac anomaly in 26 (57.8%) patients, while clenched fist with pointing index finger, observed in 17 (37.8%) cases, was the most common minor US finding. Fetal growth restriction (FGR) was noted in 20 (44.4%) patients. After cytogenetic confirmation, 37.8% underwent termination, 17.8% had a fetal demise, and only 11.1% had live birth with the longest survival noted at 5.5 months postnatally. Gender was documented in 13 fetuses with a male-to-female ratio of 0.6. A meticulously performed US examination can detect a combination of anomalies that could alert the sonologist to the possibility of trisomy 18. While the US profile could vary among fetuses, an understanding of the spectrum of the anomalies commonly seen in these fetuses would enable caregivers to reach an early accurate diagnosis, and offer appropriate genetic counseling and pregnancy decisions in these cases.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140671345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cleidocranial dysplasia is a rare autosomal dominant skeletal disorder characterized by clavicular hypoplasia, delayed closure of fontanels, dental abnormalities, and other skeletal anomalies. This case report presents the prenatal detection of cleidocranial dysplasia by exploring a subtle abnormality during routine prenatal ultrasound examination, subsequent genetic confirmation, and postabortal X-ray analysis. The aim is to emphasize the importance of taking into account any apparently insignificant ultrasound finding to diagnose a fetal genetic abnormality.
颅裂发育不良是一种罕见的常染色体显性骨骼疾病，以锁骨发育不良、囟门闭合延迟、牙齿畸形和其他骨骼异常为特征。本病例报告通过产前常规超声波检查、基因确认和死后 X 光分析，发现了一个微小的异常，从而在产前检测出裂颅发育不良。目的是强调在诊断胎儿基因异常时，考虑任何表面上不明显的超声波发现的重要性。
{"title":"Prenatal Detection of Cleidocranial Dysplasia: A Case Report Highlighting the Importance of Exploring Insignificant Ultrasound Signs","authors":"Prasanna Roy, Shankar Dey","doi":"10.1055/s-0044-1786169","DOIUrl":"https://doi.org/10.1055/s-0044-1786169","url":null,"abstract":"Cleidocranial dysplasia is a rare autosomal dominant skeletal disorder characterized by clavicular hypoplasia, delayed closure of fontanels, dental abnormalities, and other skeletal anomalies. This case report presents the prenatal detection of cleidocranial dysplasia by exploring a subtle abnormality during routine prenatal ultrasound examination, subsequent genetic confirmation, and postabortal X-ray analysis. The aim is to emphasize the importance of taking into account any apparently insignificant ultrasound finding to diagnose a fetal genetic abnormality.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140685349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Caudal dysplasia or caudal regression sequence is a congenital malformation that is characterized by maldevelopment of the lower half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous system. Most cases are sporadic and associated with the presence of a single umbilical artery. We report three cases with varying morphological spectrum of caudal dysplasia diagnosed during the first trimester ultrasound.
{"title":"Understanding Caudal Dysplasia Sequence: Three Case Reports","authors":"Monica Kansal, Sanheeta Dasgupta, Tanveer Aujla, Manju Gupta, Gaurav Kumar","doi":"10.1055/s-0044-1786354","DOIUrl":"https://doi.org/10.1055/s-0044-1786354","url":null,"abstract":"Caudal dysplasia or caudal regression sequence is a congenital malformation that is characterized by maldevelopment of the lower half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous system. Most cases are sporadic and associated with the presence of a single umbilical artery. We report three cases with varying morphological spectrum of caudal dysplasia diagnosed during the first trimester ultrasound.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140682815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Cullen, Ericalyn Kasdorf, Sara Cohen, A. Kovanlikaya, Brittany Roser, Corrina Oxford-Horrey, Cynthia Perez, Catherine Chang
Most infants with prenatally diagnosed congenital diaphragmatic hernia (CDH) are intubated rapidly after birth to optimize oxygenation and ventilation while avoiding abdominal distention and high mean airway pressures. A twin pregnancy complicated by one twin with a CDH diagnosis is a rare event and is associated with preterm delivery and low birth weight compared to singletons with CDH. In rare cases of discordant CDH in twin pregnancies with an absence of external distinguishing features (similar weights, fetal presentation, and sex), it may be difficult to quickly determine which twin has CDH in the delivery room (DR), raising ambiguity about the best management of both infants. This case describes the successful use of ultrasound (US) in the DR to rapidly diagnose the presence or absence of CDH in discordant twins. By developing a resuscitation algorithm and using in situ simulations prior to delivery, the twin with CDH was rapidly identified, intubated, and transported to the neonatal intensive care unit (NICU) for further management. The twin without CDH received routine care and was transferred to the well-baby nursery. Interprofessional planning and simulation may be used to design a safe resuscitation plan incorporating US diagnosis of diaphragmatic anomalies into the Neonatal Resuscitation Program (NRP) algorithm.
{"title":"Ultrasound Differentiation of Twins with Discordant Congenital Diaphragmatic Hernia in the Delivery Room","authors":"S. Cullen, Ericalyn Kasdorf, Sara Cohen, A. Kovanlikaya, Brittany Roser, Corrina Oxford-Horrey, Cynthia Perez, Catherine Chang","doi":"10.1055/s-0044-1786166","DOIUrl":"https://doi.org/10.1055/s-0044-1786166","url":null,"abstract":"Most infants with prenatally diagnosed congenital diaphragmatic hernia (CDH) are intubated rapidly after birth to optimize oxygenation and ventilation while avoiding abdominal distention and high mean airway pressures. A twin pregnancy complicated by one twin with a CDH diagnosis is a rare event and is associated with preterm delivery and low birth weight compared to singletons with CDH. In rare cases of discordant CDH in twin pregnancies with an absence of external distinguishing features (similar weights, fetal presentation, and sex), it may be difficult to quickly determine which twin has CDH in the delivery room (DR), raising ambiguity about the best management of both infants. This case describes the successful use of ultrasound (US) in the DR to rapidly diagnose the presence or absence of CDH in discordant twins. By developing a resuscitation algorithm and using in situ simulations prior to delivery, the twin with CDH was rapidly identified, intubated, and transported to the neonatal intensive care unit (NICU) for further management. The twin without CDH received routine care and was transferred to the well-baby nursery. Interprofessional planning and simulation may be used to design a safe resuscitation plan incorporating US diagnosis of diaphragmatic anomalies into the Neonatal Resuscitation Program (NRP) algorithm.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140682624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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