First-trimester biochemical screening for fetal chromosome abnormalities and neural tube defects

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.

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First-Trimester Screening for Neural Tube Defects Using Alpha-Fetoprotein

Fetal Diagnosis and Therapy ◽

10.1159/000335677 ◽

2012 ◽

Vol 31 (2) ◽

pp. 109-114 ◽

Cited By ~ 29

Author(s):

F.E. Bredaki ◽

L.C. Poon ◽

C. Birdir ◽

D. Escalante ◽

K.H. Nicolaides

Keyword(s):

Neural Tube ◽

Neural Tube Defects ◽

First Trimester ◽

Alpha Fetoprotein ◽

First Trimester Screening ◽

Trimester Screening

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Folic acid, periconceptional multivitamin supplementation and pregnancy: modern aspects

Medical Council ◽

10.21518/2079-701x-2021-3-50-53 ◽

2021 ◽

pp. 50-53

Author(s):

A. Yu. Romanov ◽

N. V. Dolgushina

Keyword(s):

Folic Acid ◽

Neural Tube ◽

Neural Tube Defects ◽

Significant Risk ◽

Significant Risk Factor ◽

First Trimester ◽

Water Soluble ◽

Multivitamin Supplementation ◽

Vitamin B9 ◽

Urinary Tract Malformations

Folic acid (vitamin B9) is a water-soluble vitamin, essential for the growth and development of the blood and immune systems. Its deficiency is a significant risk factor for fetal neural tube defects. The widespread implementation of drugs and food supplements containing folic acid in preparation for pregnancy and in its first trimester has significantly reduced the incidence of fetal neural tube defects.According to current recommendations, taking 0.4 mg of folic acid per day is indicated within 6 months before conception and in the first trimester of pregnancy. Taking folic acid at a dosage of 4 mg is indicated for patients with a history of a fetal neural tube defect.There are also other risk factors for developing fetal neural tube defects. These include family history, obesity, malabsorption syndrome, folate cycle gene polymorphisms, smoking, drug use, diabetes mellitus (pre-gestational), and other chronic diseases. Determination of the required dosage of folic acid in these categories of patients still requires discussion and clinical trials. Also, folic acid intake is associated with a decreased risk of esophageal atresia, conotruncal heart disease, cleft palate, urinary tract malformations, and omphalocele, reduces the incidence of some behavioral anomalies, in particular, hyperactivity, the need for planning a pregnancy.

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

Diagnostics ◽

10.3390/diagnostics10110986 ◽

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.

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Valproate Teratogenicity

PEDIATRICS ◽

10.1542/peds.71.6.980 ◽

1983 ◽

Vol 71 (6) ◽

pp. 980-980

Author(s):

Keyword(s):

Valproic Acid ◽

Disease Control ◽

Neural Tube ◽

Neural Tube Defects ◽

Prenatal Testing ◽

First Trimester ◽

Teratogenic Effects ◽

Recent Statement ◽

Estimated Risk ◽

First Trimester Of Pregnancy

In a recent statement entitled, "Valproic Acid: Benefits and Risks" we reported that despite the presence of teratogenic effects in animals there existed only one possible case in man.1 Recently the Centers for Disease Control has reported that the use of valproic acid (Depakene), during the first trimester of pregnancy, may increase the risk of having a child with spina bifids.2 The report, based upon a study undertaken in Rhône-Alpes, France,3,4 quotes an estimated risk of 1.2%. Based upon this information, we believe that a woman who becomes pregnant while on valproic acid should consult with her physician about prenatal testing for neural tube defects. Additional recommendations for the counseling of women who require anticounvulsant treatment during pregnancy have been published previously.5

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Maternal flu or fever, medications use in the first trimester and the risk for neural tube defects: a hospital-based case–control study in China

Child s Nervous System ◽

10.1007/s00381-013-2305-3 ◽

2013 ◽

Vol 30 (4) ◽

pp. 665-671 ◽

Cited By ~ 5

Author(s):

Meng Wang ◽

Zhi-Ping Wang ◽

Rui Gong ◽

Zhong-Tang Zhao

Keyword(s):

Neural Tube ◽

Neural Tube Defects ◽

Case Control Study ◽

First Trimester ◽

Case Control ◽

Control Study

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

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2010.10.362 ◽

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

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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?

Fetal Diagnosis and Therapy ◽

10.1159/000363654 ◽

2014 ◽

Vol 37 (3) ◽

pp. 206-210 ◽

Cited By ~ 6

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.

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