Screening and Diagnostics of Fetal and Neonatal Malformations
A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Neonatology".
Deadline for manuscript submissions: 15 May 2026 | Viewed by 33
Special Issue Editor
Interests: perinatology; prenatal diagnostics; obstetric genetics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The diagnosis of fetal developmental disorders differs from diagnosis in the neonatal period. We have less information about the fetal phenotype in utero, based on ultrasound, possibly MRI, and various screenings, so only the suspicion of certain disorders arises. Therefore, phenotype–genotype matching is much more difficult. The appropriate diagnostics must be selected based on the uncertain phenotype: traditional karyotyping, FISH, F-PCR, CMA, WES, or targeted sequencing.
After birth, examinations of the newborn—and in the case of miscarriage or stillbirth, pathological and fetopathological examinations—provide the opportunity for more detailed, accurate, and deep phenotyping.
A lot of useful information comes from comparing the results of intrauterine examination and those of examinations after delivery or miscarriage.
Dr. Artur Beke
Guest Editor
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Keywords
- obstetric ultrasound
- fetal malformations
- genetic examinations
- neonatal malformations
- fetopatology
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