Zentrum für Pränataldiagnostik

Recent papers from Zentrum für Pränataldiagnostik

1. Detection of Nuchal Cord Based on Specific CTG Patterns Intrapartum – A Myth?Geburtshilfe und Frauenheilkunde · 2025
2. Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratoriesFrontiers in Neurology · 2023
3. Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous SclerosisPediatric Reports · 2023
4. Routine Screening for Peripartum Depression in the Gynecologic and Pediatric Setting – Evaluation of an Adapted EPDS VersionZeitschrift für Geburtshilfe und Neonatologie · 2023
5. PHIP-associated Chung-Jansen syndrome: Report of 23 new individualsFrontiers in Cell and Developmental Biology · 2023
6. Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal LesionsAnnals of Neurology · 2022
7. Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesNature Communications · 2022
8. Treatment of Classic Mid-Trimester Preterm Premature Rupture of Membranes (PPROM) with Oligo/Anhydramnion between 22 and 26 Weeks of Gestation by Means of Continuous Amnioinfusion: Protocol of a Randomized Multicentric Prospective Controlled TRIAL and Review of the LiteratureLife · 2022
9. Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?Journal of Clinical Medicine · 2022
10. Basic Gynecologic Ultrasound Examination (Level I): DEGUM, ÖGUM, and SGUM RecommendationsUltraschall in der Medizin - European Journal of Ultrasound · 2022
11. Recommendations for whole genome sequencing in diagnostics for rare diseasesEuropean Journal of Human Genetics · 2022
12. Diagnosis, Therapy and Follow-up of Cervical Cancer. Guideline of the DGGG, DKG and DKH (S3-Level, AWMF Registry No. 032/033OL, May 2021) – Part 2 with Recommendations on Psycho-oncology, Rehabilitation, Follow-up, Recurrence, Palliative Therapy and Healthcare FacilitiesGeburtshilfe und Frauenheilkunde · 2022
13. Diagnosis, Therapy and Follow-up of Cervical Cancer. Guideline of the DGGG, DKG and DKH (S3-Level, AWMF Registry No. 032/033OL, May 2021) – Part 1 with Recommendations on Epidemiology, Screening, Diagnostics and TherapyGeburtshilfe und Frauenheilkunde · 2022
14. Intersexual Twins due to Tetragametic ChimerismCytogenetic and Genome Research · 2022
15. Trio exome sequencing is highly relevant in prenatal diagnosticsPrenatal Diagnosis · 2021
16. The Use of Artificial Intelligence in Automation in the Fields of Gynaecology and Obstetrics – an Assessment of the State of PlayGeburtshilfe und Frauenheilkunde · 2021
17. Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohortUltrasound in Obstetrics and Gynecology · 2021
18. Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disabilityHuman Mutation · 2021
19. Furcate insertion of the umbilical cord: pathological and clinical characteristics in 132 casesJournal of Perinatal Medicine · 2020
20. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsyGenetics in Medicine · 2020