DOI: 10.1055/s-00057371

Journal of Fetal Medicine

Ausgabe 01 · Volume 12 · März 2025 DOI: 10.1055/s-015-62097

SFM Practice Guidelines

  • 001
    Pal, Swasti; Bhatia, Sameer; Ranganath, Priya; Lallar, Meenakshi; Saini, Neelam; Datar, Chaitanya; Sait, Haseena; Srivastava, Somya; Dalal, Ashwin; Aggarwal, Shagun; Puri, Ratna Dua; members of Society for Indian Academy of Medical Genetics Executive Committee:

    Carrier Screening for Genetic Disorders: Recommendations by the Society for Indian Academy of Medical Genetics

    Open Access

    • Editorial

  • 003
    Khurana, Ashok; Khan, Mohd Faisal:

    Carrier Screening Guidelines in India: The Way Forward

    Open Access

    • Original Article

  • 005
    Magar, Suvarna; Magar, Ghansham; Kotecha, Dheeraj; Deshmukh, Ashwini; Rachkonda, Laxmi; Malhotra, Mehak; Agrawal, Aarti:

    Targeted Whole-Exome Sequencing for Carrier Screening of Couples Having Previously Affected Pregnancies with Suspected Autosomal Recessive Diseases

    Open Access
  • 015
    Routhu, Madhavi Latha:

    Role of First-Trimester Ultrasound Screening for Central Nervous System Anomalies: A Single Center Study

    Open Access
  • 023
    Kantarcı, Sercan; Karabulut, Alaattin; Bulut, Sertaç; Bölükbaşı, Mehmet; Kaygun, Bilgesu Çetinel; Ekin, Atalay:

    Determination of Factors Affecting the Latent Period of Periviable Premature Rupture of Membranes: Cases and Evaluation of Newborn Outcomes

    Open Access

    • Pictorial Essay

  • 032
    Scalia, Maria S.; Hezelgrave, Natasha L.; Cerdeira, A. Sofia; Tapon, Dagmar; Lees, Christopher C.; Cobben, Jan M.:

    FGFR2 Genetic Variant C.1019A > G p.(Tyr340Cys) in a Fetus with Pfeiffer Type II Syndrome Diagnosed by a Combination of 3D Ultrasound Phenotyping and DNA Sequencing

    Open Access

    • Case Series

  • 035
    Desai, Purvi; Kathrotiya, Kalpana; Mehta, Dipti; Patel, Shimolee; Chauhan, Binodini:

    Case Series of Fraser Syndrome

    Open Access

    • Case Report

  • 040
    Pancholi, Alpesh D.; Makam, Adinarayana:

    Atretic Parietal Cephalocele with Persistent Falcine Sinus and Sinus Pericranii: A Rare Case Diagnosed on Prenatal Ultrasound

    Open Access
  • 044
    Eka, Sowjanya; Vikraman, Seneesh Kumar; Puthenveettil, Shanas Kangatt; Chandran, Pillai Divya; Urangat, Prashobh Raj; Chandran, Rijil; Murugan, Smitha:

    A Case of Recurrent Schizencephaly with Prenatal and Postnatal Ultrasound and Magnetic Resonance Imaging Details

    Open Access
  • 049
    Sri Sai Lakshmi, Bacchu Jagannatha; Chintala, Jitender Reddy:

    Prenatal Diagnosis of Cardiac Rhabdomyoma and Cortical Tubers Proven as Tuberous Sclerosis Complex

    Open Access
  • 053
    Gupta, Ruchi; Singh, Aishwerya; Yadav, Priyanshi; Tiwari, Richa; Ahmad, Zohra:

    Prenatal Diagnosis of Aortopulmonary Window: A Case Report

    Open Access Video vorhanden