Genetics
- A case of an unexpected reason for a failed prenatal non-invasive test
- A case of early detection of molybdenum cofactor deficiency in prenatal care
- A case of mutation gen PIK3R2 retaled with fetal macrocephaly
- A case of prenatal detection of ultrasound changes - cytogenetic study and genetic counseling
- A case of prenatal diagnosis of deletion in the distal region of the short arm of chromosome 2
- A case of successful pregnancy outcome in turner syndrome
- A case report and literature reivew of 1p34.3 deletion
- A nine-year retrospective study of amniocentesis in a district hospital
- A rare case of trisomy 8 mosaicism
- A spontaneous pregnancy in a patient with turner syndrome with 45, x/47, XXX mosaicism
- Application of Exome Sequencing for perinatal diagnosis in the presence of fetal malformations
- Bartter syndrome type IVa: an unusual cause of polyhydramnios
- Chorion villus sampling for early follow-up diagnostic testing of a subset of NIPT trisomies
- Clinical use of combined first trimester screening for aneuploidy at tertiary centre in low resource setting, Ethiopia
- Diagnosis of Turner syndrome based on ductus venosus agenesis
- Enhancing thalassemia carrier detection: a comprehensive study of prenatal screening methods
- Evaluation of the possibility of ultrasound, biochemical screening and non-invasive prenatal testing for fetal malformations and chromosomal abnormalities
- Fetal exome sequencing for both fetuses having increased nuchal translucency in a DCDA twin pregnancy
- Fetal Marfan's syndrome due to a novel FBN1 mutation
- FLNA de novo pathogenic variant in a fetus with skeletal dysplasia
- From detection to decision: managing variants of uncertain significance in prenatal genetic testing: a report of three cases
- Increased nuchal translucency thickness and normal chromosomal microarray: A Danish nationwide cohort study
- Increased nuchal translucency, beyond Down Syndrome toward the study of RASopathies
- Management of pregnancies complicated by Fabry disease. A case report and literature review
- Novel prenatal phenotype of interstitial deletions in chromosome 2q32-33 [Glass Syndrome]: expanding the phenotypic spectrum
- Nuchal translucency above the 99th percentil with a normal karyotype – what are the outcomes?
- Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for fetal aneuploidies to prediction of adverse pregnancy outcomes
- Polymalformative syndrome with normal genetic study
- Prenatal diagnosis of chromosome 1 monosomy: a case report of phenotypic manifestations including palatal cleft, horseshoe kidney, and cerebellum hypoplasia
- Prenatal diagnosis of poretti-boltshauser - the cerebellum is the key
- Prenatal diagnosis of Wolf-Hirschorn syndrome
- Prenatal exome sequencing for apparently isolated short long bones and small for gestational age
- Prenatal ultrasound abnormalities and dilemmas in genetic counselling in copy number variants of the short arm of chromosome 16
- Prenatal whole genome cell-free DNA testing as an alternative to microarray for isolated increased fetal nuchal translucency between the 95th-99th percentiles: a retrospective analysis
- Rearrangements of 22q11.2 in foetus – ultrasonography and screening tests results
- Residual risk of chromosomal aberrations following normal prenatal screening: Danish nationwide data from 2008-2018
- Residual risks for chromosomal aberrations in patients with normal NIPS (non-invasive prenatal screening) – a retrospective study
- Seek the gene and you shall find: rare hyal2 gene variants associated with complex cardiac defects and orofacial clefting
- Severe and early iugr in pregnancy with a triploid fetus: rare evolution until the end of the second trimester
- Severe intrauterine growth restriction with postnatal diagnosis of triploidy
- Should patients carrying fetuses with known or likely trisomy 21 be managed with dopplers?
- Study of cfDNA kinetics disappearance in vanishing twin pregnancies
- The importance of mutation pattern in genetic counseling while encountering abnormal prenatal single-nucleotide polymorphism array results
- Ultrasound road to chromosomal aberration diagnosis