Treatment courses and outcomes of oesophageal atresia in patients with trisomy 18: a case series of 271 patients from a nationwide database in Japan
Conclusion This study provides information that will aid the clinical decision-making process for patients with oesophageal atresia and trisomy 18. Radical surgery may be a safe and feasible treatment option. (Source: Archives of Disease in Childhood - Fetal and Neonatal Edition)
Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - April 18, 2024 Category: Perinatology & Neonatology Authors: Kutsukake, M., Konishi, T., Fujiogi, M., Takamoto, N., Morita, K., Yasuhisa, I., Hashimoto, Y., Matsui, H., Fushimi, K., Fujishiro, J., Yasunaga, H. Tags: Original research Source Type: research

Genes, Vol. 15, Pages 463: Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome
andowska The mosaic form of Edwards syndrome affects 5% of all children with Edwards syndrome. The clinical phenotype is highly variable, ranging from the full spectrum of trisomy 18 to the normal phenotype. The purpose of this publication was to present the therapeutic process in an 18-month-old girl with the mosaic form of Edwards syndrome and hepatoblastoma, against the background of other cases of simultaneous occurrence of this syndrome and hepatoblastoma described so far. It appears that this particular group of patients with hepatoblastoma and Edwards syndrome can have good outcomes, provided they do not have li...
Source: Genes - April 7, 2024 Category: Genetics & Stem Cells Authors: Patrycja Sosnowska-Sienkiewicz Alicja Kami ńska Iwona Anderko Gabriela Telman-Ko łodziejczyk Przemys ław Mańkowski Danuta Januszkiewicz-Lewandowska Tags: Case Report Source Type: research

Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study
Choroid plexus cyst (CPC) is a cystic anechoic region in choroid plexus of fetal lateral ventricle. It is one of the common sonographic soft markers in the second trimester, which was first reported by Chudleigh et al. in 1984. Later, Nicolaides et al. pointed out that CPC is related to trisomy 18 [1,2]. In the second trimester, CPC can be found in 1  %-2% of normal fetuses, of which more than 90 % disappear after 28 weeks of gestation and only a few show progressive enlargement [3,4]. CPC is not equivalent to fetal malformation. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - April 6, 2024 Category: OBGYN Authors: Linlin Wang, Ping Liang, Pingshan Pan, Jiasun Su, Jiayi Qin, Zhaoxia Chen, Dongbing Huang, Weijia Sun, Pengshu Song, Hongwei Wei Tags: Full length article Source Type: research

Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort
AbstractTo estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed. A total of 190 cases of fetal AVSD were analyzed. Complete AVSDs comprised 141 (74.2%) of the cohort, wh...
Source: Mammalian Genome - April 3, 2024 Category: Genetics & Stem Cells Source Type: research

Contemporary Trends in Cardiac Surgical Care for Trisomy 13 and 18 Patients Admitted to Hospitals in the United States
To assess rates of cardiac surgery and the clinical and demographic features that influence surgical vs. non-surgical treatment of congenital heart disease (CHD) in patients with trisomy 13 (T13) and trisomy 18 (T18) in the United States. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - February 7, 2024 Category: Pediatrics Authors: Jason W. Greenberg, Kevin Kulshrestha, Aadhyasri Ramineni, David S. Winlaw, David G. Lehenbauer, Farhan Zafar, David S. Cooper, David L.S. Morales Tags: Original Articles Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clin Med Res)
Source: Clin Med Res - January 31, 2024 Category: Research Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit
Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.PMID:38296637 | DOI:10.3121/cmr.2023.1775 (Source: Clinical Medicine and Research)
Source: Clinical Medicine and Research - January 31, 2024 Category: General Medicine Authors: J ános Levente Turos Emmanuel Ladanyi Tam ás Szabó B éla Szabó Source Type: research