Research Topic · Peer-Reviewed

Prenatal Diagnosis

Prenatal diagnosis is the antenatal detection and characterization of structural, chromosomal, genetic, and functional abnormalities in the fetus, enabling informed counseling, pregnancy management, and planning for delivery and postnatal or fetal therapy. It combines imaging with sampling and molecular techniques: …

Curated from this journal's research 📚 12 peer-reviewed articles cited Cited 6× across the literature 🔖 ISSN 2997-2086 🗓 Reviewed June 2026

Overview

Prenatal diagnosis is the antenatal detection and characterization of structural, chromosomal, genetic, and functional abnormalities in the fetus, enabling informed counseling, pregnancy management, and planning for delivery and postnatal or fetal therapy. It combines imaging with sampling and molecular techniques: detailed and three-dimensional ultrasonography and Doppler angiography assess fetal anatomy, growth, and circulation, while invasive procedures such as amniocentesis and chorionic villus sampling provide fetal cells for cytogenetic and molecular testing. Increasingly, gene-level diagnosis—trio sequencing and identification of pathogenic mutations in disorders such as junctional epidermolysis bullosa, Tay-Sachs disease, inherited bleeding disorders, and multiple endocrine neoplasia—refines risk assessment and reproductive decision-making, raising attendant ethical considerations. Prenatal recognition of surgically relevant conditions, including congenital diaphragmatic hernia and fetal cystic lesions, allows prognostic stratification and identification of candidates for fetal intervention, linking diagnosis directly to Fetal Surgery and perinatal management. Accurate prognostication of malformations and assessment of fetal nutritional and physiological status further guide multidisciplinary planning. The journal publishes peer-reviewed research on fetal diagnosis, imaging, genetics, and the prenatal evaluation of conditions amenable to intervention, supporting the integration of diagnostic findings with maternal-fetal and surgical care across a range of congenital and inherited disorders.

Research published in this journal

12 peer-reviewed articles, ranked by relevance. Each links to its DOI.

2020

The Genetic Multiplicity- Multiple Endocrine Neoplasia type I

Bajaj AnubhaCorresponding author
MD. (Pathology) Panjab University, Department of Histopathology, A.B. Diagnostics, A-1, Ring Road, Rajouri Garden, New Delhi, 110027, India.
Exact topic International Journal of Infection Prevention doi:10.14302/issn.2690-4837.ijip-20-3176
2017

The Evolution of Fetal Surgery

Knezevich MichelleCorresponding author
Division of Pediatric Surgery, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI.
Fetal Surgery doi:10.14302/issn.2997-2086.jfs-17-1663

How this research is being cited

The 12 articles above have been cited 6 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.

A sample of recent works citing this journal's research on Prenatal Diagnosis, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in Fetal Surgery (ISSN 2997-2086).

This page summarises published research for orientation; it is not medical or professional advice.