Aneuploidies
- 2p duplication syndrome presenting with multiple anomalies
- A national first trimester screening program using the FMF algorithm in a public setting - still going strong after 17 years
- Cell-free DNA test for fetal chromosomal abnormalities in multiple pregnancies
- Chorionic Villus Sampling: feasibility of this technique in our center
- Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
- Contribution of the exome sequencing in the context of prenatal diagnosis in our environment
- Defining “hypoplasia of the fetal nasal bone” as a marker for aneuploidies
- Deletion in the 15q11.2 region in a fetus with pulmonary agenesis: case report and literature review
- Detecting fetuses with major Trisomies – can we rely on ultrasound only?
- Does the prenatal phenotype of charge syndrome overlap with the postnatal phenotype?
- Efficacy of the noninvasive prenatal test (NIPT Cell-free DNA): The experience of a portuguese hospital
- Fetal aneuploidy with dual‐probe fluorescence in situ hybridization analysis in circulating trophoblasts after enrichment using a high‐sensitivity microfluidic platform
- High rate of abnormal findings in prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
- Impact of ethnicity and maternal age in the uptake of invasive prenatal testing for high-risk first trimester combined aneuploidy screening
- Impact of increased nuchal translucency values on pregnancy outcomes
- Is prenatal genetic testing essential in fetuses with structural anomalies and / or soft markers?
- Isolated Aberrant Right Subclavian Artery: Does It Increase the Risk of Aneuploidy?
- Klippel-Trenaunay syndrome
- Nance-Horan syndrome – Cataract 40, x-linked in a male fetus
- Non-invasive prenatal diagnosis of a fetus with hypohidrotic ectodermal dysplasia (HED)
- Non-invasive prenatal testing (NIPT) for common chromosomal aneuploidies: data from a single center in a routine screening population
- Novel NSDHL mutation as a rare cause of fetal cortical malformation – First prenatal description of CK syndrome
- Outcome of fetuses with NT above the 95th percentile in an resource limited population to enable effective counselling of couples
- Paternal age over 40 years is associated with increased trisomy 21 risk independently of maternal age: a retrospective cohort study
- Performance of the non-invasive prenatal test in vanishing twin pregnancies: a systematic review
- Prediction of small-for-gestational-age (SGA) infants within a high-risk population of confined placental mosaicism pregnancies
- Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies
- Prenatal Cell-free DNA testing: Analysis of “No Call” and Low Fetal Fraction Results
- Prenatal exome sequencing and women’s choices for termination of pregnancy after 22 weeks gestation: A cohort study
- Prenatal invasive diagnostic tests: diagnostic performance according to procedure indication
- Prenatal screening for aneuploidy in Catalonia with incorporation of cell-free fetal DNA in maternal blood
- Prenatal WES for rapid detection of copy number variants and single gene disorders in uncultured samples
- Sensitivity of first trimester biochemical and biophysical multiple markers in fetal aneuploidy detection
- Stuve-Wiedemann syndrome in one family: diagnosis and outcome
- SURF1 knockout pig: a powerful model to implement In Utero Fetal Gene Therapy for Leigh Syndrome
- The challenge of fetal phenotyping
- The presentation and Investigation of single gene causes of lymphatic-related fetal hydrops
- Two cases of the Prenatal Diagnosis of Accidental Findings of X Chromosome Microduplications
- Unusual findings in Down’s syndrome: hand agenesis and hypospadias