Disease: Patau syndrome
- "She was finally mine": the moral experience of families in the context of trisomy 13 and 18- a scoping review with thematic analysis
- A 29-Year-Old Patient With Patau Syndrome: A Case Report on Medical Management
- A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia
- A pilot study to screen the trisomy 13 from the amniotic fluid puncture
- Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT
- Airway findings in trisomy 13 and trisomy 18: A 10-year retrospective review
- An improved deep convolutional neural network architecture for chromosome abnormality detection using hybrid optimization model
- An infant with patau syndrome associated with congenital heart defects
- Analysis of the factors influencing positive predictive value of noninvasive prenatal testing for chromosome aneuploidies
- Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report
- Application of QF-PCR Technology Combined With Early Pregnancy Ultrasound in Prenatal Screening for Fetal Chromosomal Aneuploidy
- Artificial intelligence for prenatal chromosome analysis
- Assessment of a Simplified Cell-Free DNA Method for Prenatal Down Syndrome Screening
- Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study
- Association between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations: A systematic review and meta-analysis
- Bacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia
- Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
- Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA
- Causes of death in children with congenital anomalies up to age 10 in eight European countries
- Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study
- Cell-Free Fetal Deoxyribonucleic Acid (cffDNA) Analysis as a Remarkable Method of Non-Invasive Prenatal Screening
- Circulating Cell-free DNA and Screening for Trisomies
- Cleft lip and/or palate mortality trends in the USA: a retrospective population-based study
- Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13
- Clinical evaluation of true and false positive Z values among high-risk cases screened by non-invasive prenatal testing
- Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes
- Clinical spectrum of orbital and ocular abnormalities on fetal MRI
- Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
- Cochlear Implantation in a Child with Patau Syndrome
- Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21
- Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review
- Congenital Hepatic Cyst in Patients With Patau Syndrome: A Rare Clinical Finding
- Consequences of gaining an extra chromosome
- Constitutional chromosomal anomalies in children, fetal alcohol syndrome, and maternal toxicant exposures: A longitudinal cohort study
- Contemporary Trends in Cardiac Surgical Care for Trisomy 13 and 18 Patients Admitted to Hospitals in the United States
- COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease
- Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21
- Detection rates of a national fetal anomaly screening programme: A national cohort study
- Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand
- Evaluation of The Relationship between Cell-Free DNA Fetal Fraction of The Circulatory System and Fetal and Maternal Pregnancy Prognosis: A Prospective Study
- False positive non-invasive prenatal testing (NIPT) for trisomy 12 in a pregnancy associated with a favorable fetal outcome and normal hemogram in the pregnant woman
- False positive non-invasive prenatal testing (NIPT) for trisomy 21 in vanishing twin syndrome pregnancy: A comparison of the NIPT results performed in different gestations
- Fetal Cyclopia, Proboscis, Holoprosencephaly, and Polydactyly: A Case Report With Review of Literature
- Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies
- First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array
- First Trimester Screening Tests Pregnancy and Trisomy 13 Syndrome, Sex Chromosome Aneuploidy in Iran: A Cross-Sectional Study
- Gabapentin for treatment of apnea in infants with trisomy 13 and 18
- Holoprosencephaly in Patau Syndrome
- Impact of tracheostomies on the long-term survival of patients with trisomy 13 syndrome
- Intermittent Volvulus with Obstruction Due to a Meckel's Diverticulum and Band Presenting as Feeding Intolerance in a Neonate with Trisomy 13
- Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia
- Late first-trimester ultrasound findings can alter management after high-risk NIPT result
- Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results
- Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
- Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome
- Maternal MTHFR 677C>T, 1298A>C gene polymorphisms and risk of offspring aneuploidy
- Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated
- Mosaicism for trisomy 13 in a single colony at amniocentesis in a pregnancy associated with a favorable outcome
- Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review
- Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature
- Non-invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins
- Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions
- Non-Invasive prenatal testing with rolling circle amplification: Real-world clinical experience in a non-molecular laboratory
- Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin
- Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients
- Outcomes of 8 Years of Noninvasive Prenatal Testing at Nippon Medical School Hospital
- Patau and Edwards Syndromes in a University Hospital: beyond palliative care
- Patau Syndrome
- Patau Syndrome
- Pericentric Inversion of Chromosome 9 in Twins With Cyclopia: A Rare Entity
- Positive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly
- Positive predictive value of a single nucleotide polymorphism (SNP)-based NIPT for aneuploidy in twins: Experience from clinical practice
- Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
- Pregnancy outcomes and prenatal traditional karyotype analysis with fetal omphalocele
- Prenatal and fetal diagnosis of trisomy 18 after low-risk cell-free fetal DNA screening: A report of four cases
- Prenatal diagnosis and outcome of pregnancy for women with high risks by screening of fetal free DNA from peripheral blood samples
- Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand
- Prognostic factors, psychomotor development and life of trisomy 13 patients
- Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft
- Rapid diagnosis of maternal origin of fetal trisomy 13 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with young maternal age and omphalocele on prenatal ultrasound
- Rare autosomal trisomies detected by non-invasive prenatal testing
- Retrospective analysis of cell-free fetal DNA prenatal testing of maternal peripheral blood
- Ruptured Sinus of Valsalva Aneurysm Diagnosed on Coronary Computed Tomography Angiography in a Patient With Trisomy 13 Syndrome
- Screen-positive rate in cell free DNA screening for trisomy 21
- Successful use of trichlormethiazide for diazoxide-related water retention in an infant with trisomy 13
- Surgical History and Outcomes in Trisomy 13 and 18: A Thirty-year Review
- Surgical outcomes in children with Trisomy 13: An ACS NSQIP - Pediatric review
- Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry
- Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study
- The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect
- The Clinical Application and Accuracy Evaluation of Noninvasive Prenatal Testing for Common Trisomy and Sex Chromosome Aneuploidy
- The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report
- The common trisomy syndromes, their cardiac implications, and ethical considerations in care
- The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis
- The Use of Caffeine for Apnoea Associated with Trisomy 13 and Trisomy 18
- Trisomies Reorganize Human 3D Genome
- Trisomy 13
- Trisomy 13: Survival beyond the NICU
- Very low birth weight infants with congenital heart disease: A multicenter cohort study in Japan
- Young adolescent with trisomy 13