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 First Trimester Ultrasound Screening: An Update

2010 ◽  
Vol 4 (2) ◽  
pp. 97-116 ◽  
Author(s):  
JD Sonek ◽  
M Glover ◽  
M Zhou ◽  
KH Nicolaides
Keyword(s):  
Gestational Age ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Great Promise ◽  
Ultrasound Screening ◽  
Detection Rates ◽  
Crown Rump Length

Abstract For many years, the main use of ultrasound in the first trimester of pregnancy was to confirm viability and to establish gestational age. Indeed, the crown-rump length measurement in the first trimester remains the most accurate method to estimate the gestational age even today. However, improvements in ultrasound equipment and improvement in our understanding of normal and abnormal fetal development allows us now to perform a much more complete first trimester fetal evaluation. This pertains not only to the diagnosis of fetal anomalies but also to screening for fetal defects. The combination of the nuchal translucency measurement and maternal serum biochemistries (free β-hCG and PAPP-A) has been shown to be an extremely efficient way to screen for fetal aneuploidy. The addition of other first trimester markers such as the nasal bone evaluation, frontomaxillary facial angle measurement, and Doppler evaluation of blood flow across the tricuspid valve and through the ductus venosus improves the screening performance even further by increasing the detection rates and decreasing the false positive rates. Several of the first trimester markers also are useful in screening for cardiac defects. Furthermore, significant nuchal translucency thickening has been associated with a variety of genetic and nongenetic syndromes. A recently described first trimester marker called the intracerebral translucency appears to hold great promise in screening for open spine defects. Finally, it appears that a first trimester evaluation (uterine artery Doppler and the measurement of certain biochemical markers in the maternal serum) significantly improves the assessment of the risk of preeclampsia.

scholarly journals Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck

2013 ◽  
Vol 7 (4) ◽  
pp. 359-368 ◽  
Author(s):  
Tamara Illescas ◽  
Waldo Sepulveda ◽  
Begona Adiego ◽  
Pilar Martinez-Ten
Keyword(s):  
Fetal Brain ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ultrasound Screening ◽  
Second Trimester ◽  
Fetal Anomalies ◽  
Prenatal Detection ◽  
Ultrasound Findings ◽  
First Trimester Of Pregnancy ◽  
Structural Anomalies

ABSTRACT In the last 20 years, the role of first-trimester ultrasound screening has expanded from individual calculation of the risk of aneuploidy through measurement of the nuchal translucency to a powerful technique to evaluate important aspects of the fetal anatomy. Traditionally, the full anatomy scan for detection of structural anomalies has been performed in the second trimester of pregnancy. However, with the implementation of the first-trimester scan at 11 to 13 weeks of gestation many of the structural anomalies traditionally detected in the second trimester can now be identified earlier in pregnancy. In the first part of this review we discuss the main ultrasound findings that may facilitate the prenatal detection of fetal brain, face and neck abnormalities in the first trimester of pregnancy. How to cite this article Sepulveda W, Illescas T, Adiego B, Martinez-Ten P. Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck. Donald School J Ultrasound Obstet Gynecol 2013;7(4):359-368.

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.

scholarly journals The Relationship Between First-Trimester Aneuploidy Markers and Birth Weight

2021 ◽  
pp. 1-6
Author(s):  
Cenk Soysal ◽  
İsmail Biyik ◽  
Özlem Erten ◽  
Onur Ince ◽  
Hatice Sari ◽  
...  
Keyword(s):  
Plasma Protein ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Protein A ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Large For Gestational Age ◽  
Aneuploidy Screening ◽  
Beta Human Chorionic Gonadotropin

OBJECTIVE: We aimed to determine the relationship between the first-trimester aneuploidy screeningma and the predicted weight at birth: Small for gestational age and large for gestational age. STUDY DESIGN: 594 low-risk pregnant women with a singleton pregnancy, who underwent first-trimester aneuploidy screening by measuring nuchal translucency, maternal serum free beta-human chorionic gonadotropin, and pregnancy-associated plasma protein-A were included in the study. Those weighing above the 3rd percentile and below the 10th percentile were defined as small for gestational age, and those over the 90th percentile were defined as large for gestational age. RESULTS: A total of 594 pregnant women were enrolled. The mean maternal age of the studied group was 28.8±5.5 years. Low maternal serum pregnancy-associated plasma protein-A levels and decreased nuchal translucency measurements were associated with the small for gestational age newborn (p<0.001 and p=0.001, respectively). There is a significant correlation with large for gestational age for newborns only with an increase in maternal serum pregnancy-associated plasma protein-A levels (p=0.001). beta-human chorionic gonadotropin levels were not associated with the birth weight (p=0.735). CONCLUSION: Maternal serum pregnancy-associated plasma protein-A levels, one of the markers in first-trimester aneuploidy screening, can be used in the prediction of small for gestational age and large for gestational age However, due to its low correlation, it is not a suitable screening test for clinical practice.

scholarly journals SPINA BIFIDA;

2016 ◽  
Vol 23 (08) ◽  
pp. 893-901
Author(s):  
Muhammad Arslan Iqbal ◽  
Muhammad Zohaib Chaudhary ◽  
Muhammad Waseem Abbas ◽  
Faiza Maqsood ◽  
Fiza Fatima ◽  
...  
Keyword(s):  
Folic Acid ◽  
Environmental Factors ◽  
Spina Bifida ◽  
Neural Tube ◽  
Maternal Obesity ◽  
First Trimester ◽  
Developed Countries ◽  
Maternal Serum ◽  
Ultrasound Screening ◽  
Spina Bifida Aperta

Spina Bifida (SB) is a neural tube defect (NTD) due defect in neural tube,characterized by incomplete closure of spinal column. Occurrence of SB varies in differentcountries. In developed countries, it is about 0.4 per 1000 births, in US 0.7 per 1000 births and inAsia 1.9 per 1000 births. SB mostly occurs during first trimester of pregnancy. Variants of SB areSpina bifida Occulata, Spina bifida Cystica [meningocele and myelomeningocele], Spina bifidaManifesta and Spina bifida Aperta. Among these myelomeningocele is the most common type.Causing agents of SB may be genetic, non-genetic or environmental factors. Non-genetic factorsinvolve anti-convulsant drugs, anti-epileptic drugs, maternal obesity, maternal diabetes andpoor nutritional status (folate and vitamin B12 deficiency). Environmental factors are pesticides,nitrated compounds and air pollution. Common manifestations are brain malformations (ArnoldChiari II malformation and hydrocephalus), spinal cord abnormalities, latex allergy, breathingproblems, urological abnormalities and cardio-metabolic dysfunction. Diagnostic techniquesfor Spina bifida are ultrasound screening, Magnetic Resonance Imagining (MRI), amniocentesisand maternal serum alpha-fetoprotein. To prevent the risk of Spina bifida, it is recommended forthe mother to use 0.4mg of folic acid per day or in mothers affected with multiple pregnanciesrecommended dose of folic acid is 4mg per day.

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