scholarly journals Intracranial Translucency, Its Use as a Potential First Trimester Ultrasound Marker for Screening of Neural Tube Defects

Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 986
Author(s):  
Gerardo Sepúlveda-González ◽  
Tayde Arroyo-Lemarroy ◽  
David Basurto ◽  
Ivan Davila ◽  
Esteban Lizárraga-Cepeda ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Nasal Bone ◽  
Case Series ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Fetal Head ◽  
Intracranial Translucency ◽  
Spina Bifida Aperta ◽  
First Trimester Ultrasound

The objective of the study was to describe a case-series of neural tube defects (NTD) with an abnormal intracranial translucency (IT) detected during the first-trimester ultrasound scan, performed on a low-risk obstetric population in Mexico. Certified Fetal Medicine specialists performed all US scans; the IT was assessed using the mid-sagittal view of the fetal head, which is already systematically used for nuchal translucency and nasal bone evaluation. During the study, we were able to find that eight fetuses had an absence of the intracranial translucency, out of which two were reassessed at 14 weeks′ gestation and IT was normal, six of them were later diagnosed to have an NTD that consisted in spina bifida aperta (n = 5) and encephalocele (n = 1). Conclusion: As previous studies have shown, IT evaluation during the first-trimester US routine scan may be a useful screening marker for early detection of NTDs.

344: The intracranial translucency as a means of first trimester screening for neural tube defects

2011 ◽  
Vol 204 (1) ◽  
pp. S140
Author(s):  
Jason D. Retzke ◽  
Christine M. Kovac ◽  
David S. McKenna ◽  
Catherine M. Downing ◽  
Jiri D. Sonek
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
First Trimester Screening ◽  
Intracranial Translucency ◽  
Trimester Screening

Is MSAFP Still a Useful Test for Detecting Open Neural Tube Defects and Ventral Wall Defects in the Era of First-Trimester and Early Second-Trimester Fetal Anatomical Ultrasounds?

2014 ◽  
Vol 37 (3) ◽  
pp. 206-210 ◽  
Author(s):  
Ashley S. Roman ◽  
Simi Gupta ◽  
Nathan S. Fox ◽  
Daniel Saltzman ◽  
Chad K. Klauser ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Fisher Exact Test ◽  
Ultrasound Screening ◽  
Second Trimester ◽  
Ventral Wall

Introduction: To evaluate whether maternal serum α-fetoprotein (MSAFP) improves the detection rate for open neural tube defects (ONTDs) and ventral wall defects (VWD) in patients undergoing first-trimester and early second-trimester fetal anatomical survey. Material and Methods: A cohort of women undergoing screening between 2005 and 2012 was identified. All patients were offered an ultrasound at between 11 weeks and 13 weeks and 6 days of gestational age for nuchal translucency/fetal anatomy followed by an early second-trimester ultrasound at between 15 weeks and 17 weeks and 6 days of gestational age for fetal anatomy and MSAFP screening. All cases of ONTD and VWD were identified via query of billing and reporting software. Sensitivity and specificity for detection of ONTD/VWD were calculated, and groups were compared using the Fisher exact test, with p < 0.05 as significance. Results: A total of 23,790 women met the criteria for inclusion. Overall, 15 cases of ONTD and 17 cases of VWD were identified; 100% of cases were diagnosed by ultrasound prior to 18 weeks' gestation; none were diagnosed via MSAFP screening (p < 0.001). First-trimester and early second-trimester ultrasound had 100% sensitivity and 100% specificity for diagnosing ONTD/VWD. Discussion: Ultrasound for fetal anatomy during the first and early second trimester detected 100% of ONTD/VWD in our population. MSAFP is not useful as a screening tool for ONTD and VWD in the setting of this ultrasound screening protocol.

scholarly journals Open Neural Tube Defects: A Case Presentation of 30-year-old Secundigravida with Spina Bifida of the Fetus

2021 ◽  
Vol 4 (1) ◽  
pp. 411-417
Author(s):  
Anzhel S ◽  
Kovachev E ◽  
Tonchev AB ◽  
Georgiev B ◽  
Yaneva G ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Folic Acid ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Folic Acid Supplementation ◽  
Patient Counseling ◽  
Case Presentation ◽  
Spina Bifida Aperta

Spina bifida is a neural tube defect that occurs in about 1 in 1,500 pregnancies. Open spinal defects are associated with paralysis, incontinence and hydrocephalus requiring postnatal shunting of the cerebrospinal fluid. Neural tube defects are preventable through preconceptional folic acid supplementation. Occasionally, the diagnosis is made during routine anomaly scan at 18-20 weeks of gestation, as the earliest signs of the anomaly can be seen at the end of first trimester. The information provided by ultrasound plays a crucial role in patient counseling and pregnancy management. The authors report a case of prenatal diagnosis of spina bifida aperta with focus on detailed ultrasound presentation and difficulties in consulting in relation to the prognosis for the newborns.

Detection of spina bifida in the first trimester of gestation in association with triploidy

2017 ◽  
Author(s):  
K.K. Otaryan , C.G. Gagaev
Keyword(s):  
Spina Bifida ◽  
Early Detection ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Diagnostic Tools ◽  
Prenatal Detection ◽  
Post Abortion

The case of prenatal detection of spina bifida at 12+3 weeks of gestation is described. Termination of pregnancy was performed at 13+3 weeks. Post-abortion karyotyping revealed triploidy (69XXX). Diagnostic tools for early detection of neural tube defects in the 1st trimester of gestation and subsequent appropriate management of pregnancy are discussed.

First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Bartosz Rajs ◽  
Agnieszka Nocuń ◽  
Anna Matyszkiewicz ◽  
Marcin Pasternok ◽  
Michał Kołodziejski ◽  
...  
Keyword(s):  
Heart Defects ◽  
False Positive Rate ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Patau Syndrome ◽  
A Prospective Study ◽  
Cns Anomalies

AbstractObjectivesTo identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. Methods: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. Results: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. Conclusions: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

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