Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objectives: The aim of our study was to describe outcomes of fetuses with cystic hygromas (CH) based on results of non-invasive prenatal testing (NIPT), nuchal translucency (NT) size, and spontaneous hygroma regression.
Methods: This was a retrospective cohort study of all patients with a CH diagnosed on first trimester ultrasound at our institution over a 9-year period. The primary outcomes were pathogenic genetic abnormalities, structural malformations and perinatal loss. Secondary outcomes included pregnancy termination, live birth, and a composite of primary outcomes.
Results: Of 294 fetuses with CH, 184 (64%) had a genetic abnormality, and among the fetuses with no known genetic diagnosis, 26 (25%) had at least one structural anomaly. Low risk NIPT result was associated with a 19% (13/71) residual risk of aneuploidy, copy number variant, or other pathogenic genetic finding and the frequency of all adverse outcomes rose with increasing NT size. Finally, of 31 cases of expectantly managed CH cases that resolved in the second trimester, only 4 (13%) had a genetic abnormality.
Conclusion: NIPT results, nuchal translucency size, and early resolution are modifiers in the outcomes associated with CH in the first trimester.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.6791 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications.
Front Genet
August 2025
Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Objective: The aim of this study was to determine the diagnostic value of prenatal chromosomal microarray analysis (CMA) for fetuses at high risk for various conditions on chromosomal abnormalities.
Methods: In the study, 8,560 clinical samples were collected from pregnant women between February 2018 and June 2022, including 75 villus, 7,642 amniotic fluid, and 843 umbilical cord blood samples. All samples were screening for chromosomal abnormalities using both CMA and karyotyping.
Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0.
Mol Genet Genomic Med
September 2025
Department of Maternal-Fetal Medicine, Augusta University, Augusta, Georgia, USA.
Introduction: Spinal muscular atrophy (SMA), caused by pathogenic variants in the survival motor neuron (SMN) gene, is the most common genetic cause of mortality in children under the age of two. Prior reports of obstetric sonograms performed in pregnancies with severe forms of fetal SMA have discrepant findings that may stem from a failure to account for the SMN2 copy number.
Methods: We present a neonate diagnosed with SMA type 0 postnatally (0SMN1/1SMN2 genotype).
A retrospective analysis of 38,652 amniotic fluid karyotype.
Front Genet
August 2025
Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Healthcare Hospital, Beijing, China.
Background: Chromosomal karyotype analysis remains a classical and frontline method in prenatal diagnosis, capable of detecting balanced chromosomal abnormalities and providing insights distinct from high-resolution molecular techniques such as CMA and CNV-Seq. However, large-scale studies on the distribution of structural abnormalities and mosaicism in amniotic fluid karyotypes are scarce, with most previous research focusing on common aneuploidies.
Objective: The study aimed to elucidate the relationship between chromosomal structural abnormalities and specific chromosomes.
Feasibility of Ductus Venosus Doppler Screening During First Trimester Ultrasound: Prospective Multicenter Study.
Medicina (Kaunas)
July 2025
Department of Obstetrics and Gynecology, Paule de Viguier Hospital, CHU, 31300 Toulouse, France.
: Doppler abnormalities in the ductus venosus (DV) during the first trimester can serve as an early marker for the detection of congenital heart defects (CHDs), but the feasibility of systematically assessing the DV remains underexplored. This study aimed to evaluate the feasibility of performing DV assessments during routine first-trimester ultrasound screenings. : A multicenter, prospective, and descriptive study was conducted, including singleton pregnancies undergoing routine ultrasound screening between 11 + 0 and 13 + 6 weeks of gestation.
View Article and Find Full Text PDFPrenatal Rare 16q24.1 Deletion Between Genomics and Epigenetics: A Review.
Genes (Basel)
July 2025
Medical Genetics and Genomic Unit, San Bortolo Hospital, 36100 Vicenza, Italy.
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, often fatal congenital disorder characterized by severe neonatal respiratory distress and associated with complex multisystem malformations. In approximately 90% of cases, the condition is linked to deletions or mutations affecting the gene or its upstream enhancer region on chromosome 16q24.1.
View Article and Find Full Text PDF