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  1. Advancing fetal diagnosis and prognostication using comprehensive prenatal phenoty** and genetic testing

    Abstract

    Prenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging....

    Olivier Fortin, Sarah B. Mulkey, Jamie L. Fraser in Pediatric Research
    Article 27 June 2024
  2. Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

    Background

    Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening...

    **ying Yuan, Weinan Wang, ... Lingqian Wu in BMC Pregnancy and Childbirth
    Article Open access 13 May 2023
  3. Prenatal diagnosis of hereditary diffuse gastric cancer: a case report

    Background

    Hereditary diffuse gastric cancer(HDGC) is a kind of malignant gastric cancer that is difficult to find in the early stage. However, this...

    Jun **ao, Hui Li, ... Yanyang Pang in BMC Pregnancy and Childbirth
    Article Open access 01 July 2023
  4. Experience of Antenatal Thalassemia Screening and Prenatal Diagnosis from a Tertiary Care Teaching Hospital in Punjab

    Prevention of birth of thalassemia major children by identification of risk couples and prenatal diagnosis has been recommended as a realistic and...

    Ranjeet Singh Mashon, Kavita Mandrelle, Naveen Kakkar in Indian Journal of Hematology and Blood Transfusion
    Article 08 May 2024
  5. Does prenatal diagnosis of meconium peritonitis have the better recovery? A single-center over 10 years of experience

    Objective

    To evaluate whether infants with prenatal diagnosis of meconium peritonitis (MP) have a poorer prognosis.

    Methods

    A retrospective analysis...

    Mingming Li, Chaoxiang Lu, ... Qi Gao in Pediatric Surgery International
    Article 29 March 2024
  6. Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging

    We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of...

    Granlee V. Nguyen, Luis F. Goncalves, ... Patricia Cornejo in Pediatric Radiology
    Article 10 July 2023
  7. Prenatal Diagnosis of Diastematomyelia: a Case Report and Literature Review

    Diastematomyelia is a type of closed spinal dysraphism in which there is splitting of the spinal cord. It is a rare entity that accounts for less...

    Paula Arbelo-Pérez, Tania de Ganzo-Suárez, José Fernando de Luis-Escudero in Reproductive Sciences
    Article 25 July 2023
  8. Prenatal Diagnosis of Fetal Osteopathologies

    The main aim of this book is to help obstetricians and gynecologists recognize prenatal skeletal anomalies. Bone dysplasias alone represent about a...

    Aniello Di Meglio
    Book 2024
  9. Impact of Prenatal Diagnosis of Critical Congenital Heart Disease on Preoperative and Postoperative Outcomes

    The objective of this study was to assess the relationship of prenatal diagnosis of critical congenital heart disease (CHD) to preoperative and...

    Ashley N. Dischinger, Jennifer S. Li, ... Neeta J. Sethi in Pediatric Cardiology
    Article 08 June 2023
  10. Periventricular nodular heterotopia in patients with a prenatal diagnosis of myelomeningocele/myeloschisis: associations with seizures and neurodevelopmental outcomes during early childhood

    Purpose

    Historically, the presence of gray matter heterotopia was a concern for adverse postnatal neurocognitive status in patients undergoing fetal...

    Tracy M. Flanders, Jane E. Schreiber, ... Gregory G. Heuer in Child's Nervous System
    Article 27 April 2024
  11. Enteric tube position on preoperative radiographs predicts clinical outcomes in neonatal congenital diaphragmatic hernia with and without prenatal diagnosis

    Objective

    Congenital Diaphragmatic Hernia (CDH) is diagnosed prenatally in ~60% of cases. Prenatal measures typically guide management and...

    Marshall W. Wallace, Jan A. Niec, ... Harold N. Lovvorn III in Journal of Perinatology
    Article 30 June 2023
  12. Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report

    Background

    Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3

    Hua **e, Yulin Chen, ... Fan Yang in BMC Pediatrics
    Article Open access 02 March 2023
  13. Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case

    18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome...

    Maria Papamichail, Anna Eleftheriades, ... Makarios Eleftheriades in BMC Women's Health
    Article Open access 15 April 2024
  14. Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing

    Purpose

    To report a rare type of Pallister-Killian syndrome (PKS) diagnosed prenatally by the utility of non-invasive prenatal testing (NIPT).

    ...
    Fang Zhang, Ting Yin, ... Leilei Wang in Journal of Assisted Reproduction and Genetics
    Article 28 July 2023
  15. Ultrasound scoring system for prenatal diagnosis of placenta accreta spectrum

    Background

    To develop an ultrasound scoring system for placenta accreta spectrum (PAS), evaluate its diagnostic value, and provide a practical...

    Junling Zhang, Hezhou Li, ... Fan Feng in BMC Pregnancy and Childbirth
    Article Open access 07 August 2023
  16. Prenatal ultrasonic diagnosis of esophageal atresia and tracheoesophageal fistula combined with interrupted inferior vena cava: a rare case report

    Purpose

    This is an extremely rare case of complicated fetal esophageal atresia (EA) with tracheoesophageal fistula (TEF) and interrupted inferior vena...

    Yun He, **ao-yu Song, ... Wen-jun Zhang in Journal of Ultrasound
    Article 21 June 2024
  17. Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyoty**, interphase FISH, and MS-MLPA, which technique to choose?

    Objective

    This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing...

    **aoyi Cong, Tong Zhang, ... Weiqiang Liu in BMC Pregnancy and Childbirth
    Article Open access 03 May 2024
  18. Ten years’ experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities

    Objective

    This study reviewed and analyzed the prenatal diagnosis experience of thalassemia in our center over the past decade and the abnormal...

    Haijun Li, **hua Wang, ... Yi **ong in International Journal of Hematology
    Article 21 July 2023
  19. Prenatal diagnosis of fetal midgut volvulus: a case report

    Background

    Fetal midgut volvulus is an uncommon yet potentially life-threatening condition. Prenatal diagnosis may pose a challenge, due to the...

    Neelam Jain, Sandeep Singh Awal, ... Tanushree Ghosh in Journal of Medical Case Reports
    Article Open access 28 December 2022
  20. Vascular ring: prenatal diagnosis and prognostic management based on sequential cross-sectional scanning by ultrasound

    Background

    In terms of embryonic origin, vascular ring is a congenital anomaly in which the aortic arch and its branches completely or incompletely...

    Yi Zhou, Yuanyuan Zhou, ... Chaoxue Zhang in BMC Pregnancy and Childbirth
    Article Open access 02 May 2023
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