scholarly journals Diagnostic value of systematic ultrasonography for trisomy 18 syndrome in fetuses before 16 weeks gestation

2021 ◽  
Author(s):  
Jie Zhou ◽  
Xiaohui Dai ◽  
Hanmin Liu ◽  
Yiping Li ◽  
Ling Luo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Birth Rate ◽  
Nuchal Translucency ◽  
Diagnostic Value ◽  
Cystic Hygroma ◽  
Trisomy 18 ◽  
Ductus Venosus ◽  
Research Subjects ◽  
Fetal Ultrasonography ◽  
Cardiac Defects

Abstract Purpose To explore the diagnostic value of systematic fetal ultrasonography for trisomy 18 (T18) syndrome before 16 weeks gestation. Methods A total of 12 fetuses with T18 were selected as research subjects and their nuchal translucency (NT) screening and fetal systematic ultrasonographic images acquired at 11–15 weeks were retrospectively analyzed. Results In the 12 fetuses’ NT screening, ten fetuses showed NT thickening, one showed nuchal cystic hygroma, four showed reversed a-wave ductus venosus flow, and three showed omphalocele. The most common anomalies on the systematic ultrasonography before 16 weeks gestation were cardiac defects (12/12, 100%), omphalocele (4/12, 33.3%), limb anomalies (5/12, 41.7%), and facial anomalies (3/12, 25.0%). Seven of the 12 fetuses had multiple structural malformations: three had two structural malformations (25.0%), three had three structural malformations (25.0%), and one had four structural malformations (8.3%). Conclusion Systematic fetal ultrasonography before 16 weeks gestation can detect most of the structural malformations of T18, effectively shortening the prenatal diagnosis time. It is therefore of great importance for reducing the birth rate of children with T18 and minimizing the physical and mental damage to mothers and their families.

scholarly journals Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

2019 ◽  
Vol 56 (10) ◽  
pp. 654-661 ◽  
Author(s):  
Kyra E Stuurman ◽  
Marieke Joosten ◽  
Ineke van der Burgt ◽  
Mariet Elting ◽  
Helger G Yntema ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Clinical Information ◽  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Hydrops Fetalis ◽  
Common Finding ◽  
Variable Degree ◽  
Renal Anomalies ◽  
Cardiac Defects ◽  
Ultrasound Findings

BackgroundThis study evaluates 6 years of prenatal rasopathy testing in the Netherlands, updates on previous data and gives recommendations for prenatal rasopathy testing.Methods424 fetal samples, sent in for prenatal rasopathy testing in 2011–2016, were collected. Cohort 1 included 231 samples that were sequenced for 1–5 rasopathy genes. Cohort 2 included 193 samples that were analysed with a 14-gene next generation sequencing (NGS) panel. For all mutation-positive samples in both cohorts, the referring physician provided detailed ultrasound findings and postnatal follow-up. For 168 mutation-negative samples in cohort 2, solely clinical information on the requisition form was collected.ResultsIn total, 40 (likely) pathogenic variants were detected (9.4%). All fetuses showed a variable degree of involvement of prenatal findings: increased nuchal translucency (NT)/cystic hygroma, distended jugular lymph sacs (JLS), hydrops fetalis, polyhydramnios, pleural effusion, ascites, cardiac defects and renal anomalies. An increased NT was the most common finding. Eight fetuses showed solely an increased NT/cystic hygroma, which were all larger than 5.5 mm. Ascites and renal anomalies appeared to be poor predictors of pathogenic outcome.ConclusionFetuses with a rasopathy show in general multiple ultrasound findings. The larger the NT and the longer it persists, the more likely it is to find a pathogenic variant. Rasopathy testing is recommended when the fetus shows an isolated increased NT ≥5.0 mm or when NT of ≥3.5 mm and at least one of the following ultrasound anomalies is present: distended JLS, hydrops fetalis, polyhydramnios, pleural effusion, ascites, cardiac defects and renal anomalies.

Ductus venosus flow velocities in relation to the cardiac defects in first-trimester fetuses with enlarged nuchal translucency

2003 ◽  
Vol 188 (3) ◽  
pp. 727-733 ◽  
Author(s):  
Monique C. Haak ◽  
Jos W.W.R. Twisk ◽  
Margot M. Bartelings ◽  
Adriana C. Gittenberger-de Groot ◽  
John M.G. van Vugt
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Cardiac Defects ◽  
Flow Velocities

scholarly journals CYSTIC HYGROMA AND THE IMPORTANCE OF THE PRENATAL DIAGNOSIS: ABOUT A CASE

2020 ◽  
Vol 31 (Issue 2) ◽  
pp. 39-44
Author(s):  
I. Almonacid ◽  
P. Zuleta ◽  
C. Neri ◽  
A. Zannin ◽  
M. Garzón ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Developmental Disorders ◽  
Antenatal Diagnosis ◽  
Histological Study ◽  
Fatal Outcome ◽  
First Trimester ◽  
Vascular Tumor ◽  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Cystic Lymphangioma

The cystic hygroma is the malformation of the lymphatic system that is most frequently observed in the prenatal period and is located mainly in the neck and/or the nape of the neck. Its detection rate has increased since the implementation of fetal nuchal translucency (NT) in the first trimester of pregnancy and its presence has been associated with congenital abnormalities, aneuploidies, pregnancy loss, and developmental disorders. The aim of this case is to highlight the importance of antenatal diagnosis of cystic hygroma in order to perform early intervention and avoid fetal death. It is received, for anatomopathological study, a fetus of undetermined sex product of the first pregnancy of a 19 year-old mother without previous prenatal controls, with the presence of a large cystic mass that extends from the face to the neck. The histological study confirms the diagnosis of cystic hygroma. As there was no karyotype analysis, it was not possible to establish the preexistence of any genetic abnormality. Also known as cystic lymphangioma, is a benign vascular tumor whose antenatal diagnosis by ultrasonography is essential in the evolution and prognosis of the disease. Unfortunately in our case, the lack of prenatal controls and the absence of ultrasonographic studies that would allow knowing the characteristics of this lymphangioma, could significantly impact in the fatal outcome. Key words: lymphangioma; prenatal diagnosis; fetal nuchal translucency.

Abnormal first-trimester ductus venosus blood flow: a marker of cardiac defects in fetuses with normal karyotype and nuchal translucency

2010 ◽  
Vol 35 (3) ◽  
pp. 267-272 ◽  
Author(s):  
J. M. Martínez ◽  
M. Comas ◽  
A. Borrell ◽  
M. Bennasar ◽  
O. Gómez ◽  
...  
Keyword(s):  
Blood Flow ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Cardiac Defects

PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK

2018 ◽  
Vol 8 (4) ◽  
pp. 88-95
Author(s):  
Thi Ha Thi Minh ◽  
Nghia Le Trung ◽  
Nhan Nguyen Viet ◽  
Duc Vo Van ◽  
Uyen Le Thanh Nha ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Β Hcg

Introduction: Prenatal diagnosis of trisomy 21, 18 and 13 plays a very important role in the improving population quality. This study was aimed at (1) Identifying the prevalence of trisomy 21, 18 and 13 by QFPCR from amniotic cells of high-risk pregnancies; and (2) Evaluating the association between diagnosed trisomies and some characteristics of mother and fetus. Objectives and methods: 170 pregnant women with high risk of having trisomy 21, 18 or 13 fetuses during first trimester screening (gestation age from 11 weeks to 13 weeks 6 days). DNA was extracted from amniocytes for prenatal diagnosis using QF-PCR. Results: The prevalence of trisomies was 9.4%, among which trisomy 21 and trisomy 18 accounted for 68.8% and 31.2%, respectively; none of them was trisomy 13. There was the significant association between diagnosed trisomies and maternal age (cut-off 30.5 years old) and nuchal translucency thickness (cut-off 1.95 mm). MoM median of free β-hCG increased in trisomy 21 group (4.35, p = 0.021) and decreased in trisomy 18 group (0.13, p < 0.001) as compared to the non-trisomy group (2.28). MoM median of serum PAPP-A decreased in trisomy 18 group (0.14, p = 0.004) as compared to the non-trisomy group (0.54). Conclusion: Prenatal diagnosis by QF-PCR detected remarkable prevalence of fetuses with trisomy 21 và 18. There was the significant association between diagnosed trisomies and maternal age, nuchal translucency thickness, free β-hCG and serum PAPP-A. Key words: prenatal diagnosis, trisomy, QF-PCR

P01.40: Prenatal diagnosis of trisomy 21 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow

2006 ◽  
Vol 28 (4) ◽  
pp. 521-521
Author(s):  
E. Cordioli ◽  
C. G. V. Murta ◽  
A. F. Moron ◽  
I. C. Nogueira ◽  
L. C. S. Bussamra ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Nuchal Translucency ◽  
Ductus Venosus
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