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Open research questions in Prenatal Screening and Diagnostics

201 unresolved questions extracted from the limitations and future-work sections of 962 Prenatal Screening and Diagnostics papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • Longitudinal studies to assess the outcomes of pregnancies with structural anomalies, - Studies to evaluate the effectiveness of different screening protocols, - Research to improve the accuracy of diagnosis and non-directive counselling

    Structural Fetal Anomalies Identified During First-Trimester Screening: A Single-Centre Experience in Romania · 2026 · DOI

  • The study faced challenges in terms of the limited number of poor-quality blastocysts in the PGT-FET cycle, which were excluded from the statistical analysis. The study had to account for various factors, including embryo quality and maternal age, when comparing the outcomes of day 5 and day 6 blastocyst biopsies. The study did not explicitly state the challenges it faced, but it had to address the controversy surrounding the optimal timing for blastocyst biopsy during PGT.

    Evaluation of day 5 versus day 6 blastocyst biopsy in preimplantation genetic testing: clinical and neonatal outcomes · 2025 · DOI

  • the study was retrospective, - the sample size for poorly developed blastocysts was limited, - the study only included patients with common indications for PGT

    Evaluation of day 5 versus day 6 blastocyst biopsy in preimplantation genetic testing: clinical and neonatal outcomes · 2025 · DOI

  • However, the impact of early versus late TOP due to fetal anomalies remains unclear.

    Early versus late termination for fetal anomalies: Women's perspectives and psychological impact in a mixed methods study · 2026 · DOI

  • Case series and reports regarding pregnancies in individuals with specific RD exist, but there is no data on the outcome of pregnancies in the overall group.

    Pregnancies in women with rare diseases: Selected maternal and perinatal outcomes · 2026 · DOI

  • However, limited information is available regarding the impact of thalassemia carrier status on embryo euploidy, developmental competence, and embryo availability.

    Thalassemia does not significantly affect embryo ploidy outcomes in women undergoing IVF with preimplantation genetic testing · 2026 · DOI

  • 4 mm remain controversial, particularly regarding whether to first calculate the combined first trimester screening test or to proceed directly with invasive testing.

    Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester · 2025 · DOI

  • At present, whole exome sequencing (WES) has been applied in SD fetuses, but there is still a lack of data accumulation.

    Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study · 2025 · DOI

  • Little is known about how much people from Black communities have contributed to this research.

    Are People From Black Communities Proportionately Represented in UK and US Studies Examining Views on Screening and Diagnostic Genetic Testing in Pregnancy? A Scoping Review · 2025 · DOI

  • The relationship between these biomarkers and embryo chromosomal status remains complex and poorly understood.

    Diminished ovarian reserve is associated to euploidy rate: a single center study · 2025 · DOI

  • Very little is known about RT control in early mouse embryos, and how it correlates with the start of transcription during zygote gene activation (ZGA), at the 2-cell stage.

    Single cell multiomics approach to analyze replication timing and gene expression in mouse preimplantation embryos · 2025 · DOI

  • However, despite the limited sample size, our findings may not be applicable to those aged 35 or over; therefore, larger cohort studies are imperative for the validation of our results.

    Impact of blastocyst biopsy for preimplantation genetic testing on maternal and neonatal outcomes following single frozen embryo transfer cycles · 2025 · DOI

  • Cardiac and vascular anomalies are common in ART derived neonates but have not been described in calves.

    Cardiovascular phenotype analysis in large and abnormal offspring calves in relation to assisted reproductive technology · 2025 · DOI

  • A patent ductus arteriosus (PDA) was seen in 6/7 calves and could not be evaluated in one calf but auscultation was consistent with a PDA.

    Cardiovascular phenotype analysis in large and abnormal offspring calves in relation to assisted reproductive technology · 2025 · DOI

  • Background Male sperm DNA fragmentation (SDF) may be associated with assisted reproductive technology (ART) outcomes, but the impact of SDF on the occurrence of aneuploid-related miscarriage remains controversial.

    Elevated sperm DNA fragmentation is correlated with an increased chromosomal aneuploidy rate of miscarried conceptus in women of advanced age undergoing fresh embryo transfer cycle · 2024 · DOI

  • Background Optimal protocols for frozen-thawed embryo transfer (FET) after preimplantation genetic testing (PGT) remain unclear.

    Comparing Day 5 versus Day 6 euploid blastocyst in frozen embryo transfer and developing a predictive model for optimizing outcomes: a retrospective cohort study · 2024 · DOI

  • There are multiple fates for MN, including sequestration into CFs, but the molecular mechanism(s) by which this occurs remains unclear.

    Insights into embryonic chromosomal instability: mechanisms of DNA elimination during mammalian preimplantation development · 2024 · DOI

  • Our results suggest that re-analysis of sequencing data from routine WGS assays has the potential to obtain large-scale CNV population frequencies, which are not well known and may provide valuable information to support the classification and interpretation of this type of genetic variation.

    Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations · 2024 · DOI

  • These observations suggest a selective loss of aneuploid cells from human embryos, but the underlying mechanisms are not yet fully understood.

    Complex aneuploidy triggers autophagy and p53-mediated apoptosis and impairs the second lineage segregation in human preimplantation embryos · 2024 · DOI

  • However, the molecular mechanism underlying this morphologic anomaly and head-to-tail coupling apparatus remains elusive.

    Loss of CCDC188 causes male infertility with defects in the sperm head–neck connection in mice · 2024 · DOI

  • The minimum fetal fraction (FF) threshold at which dPCR retains diagnostic accuracy remains unknown. Further studies should address this by evaluating performance at lower FF to better define the assay's limitations and potential in early gestation or in individuals with high maternal BMI.

    Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR · 2026 · DOI

  • The current framework for determining the legal and ethical status of a fetus is limited and does not fully reflect contemporary clinical realities. The paper identifies a need for a flexible ethical framework that can accommodate both medical realities and patient-centered values.

    Is a Fetus a Living Entity? Reframing the Question of Its Right to Survive in Contemporary Maternal–Fetal Medicine · 2026 · DOI

  • Monogenic recessive diseases have not previously benefited from NIPD due to the inability to separate maternal and fetal DNA. There is a need for a minimally invasive approach for NIPD of SCD.

    Implementation of third-generation digital PCR for non-invasive prenatal diagnosis of sickle cell disease and early detection. Pilot study · 2026 · DOI

  • Investigation of the relationship between NIPT results and maternal malignancy, - Development of standardized protocols for reporting NIPT results, - Improvement of fetal fraction calculation methods

    Recurrent Hodgkin’s Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review · 2026 · DOI

  • The paper identifies a gap in the lack of standardized protocols for reporting abnormal NIPT results. It highlights the need for further investigation into the association between abnormal NIPT results and maternal malignancy.

    Recurrent Hodgkin’s Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review · 2026 · DOI

Most-cited papers in Prenatal Screening and Diagnostics

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201 open questions have been extracted from the limitations and future-work passages of 962 Prenatal Screening and Diagnostics papers in our library. Each one below links back to the study that raised it, so you can read the original claim in context.

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