Neural tube defects

Publication Date: December 1, 2017
Last Updated: March 14, 2022

Summary of Recommendations

The following recommendations are based on good and consistent scientific evidence.

  • All women planning a pregnancy or capable of becoming pregnant should take 400 micrograms of folic acid supplementation daily. Supplementation should begin at least 1 month before pregnancy and continue through the first 12 weeks of pregnancy.
  • Women at high risk of NTDs should take 4 mg (4,000 micrograms) of folic acid daily. The daily supplement should be initiated 3 months before pregnancy and continued until 12 weeks of gestational age.
(A)
574

The following recommendations are based on limited or inconsistent scientific evidence.

  • Ultrasonography in the second trimester is recommended for all pregnant women, The optimal time for a single ultrasound examination is 18–22 weeks, allowing for confirmation of gestational age and screening for anomalies, including NTDs.
  • Although it is possible to detect some NTDs in the first trimester, the detection rate appears to be much lower than with second-trimester ultrasonography. Therefore, a normal first-trimester ultrasound examination should not be substituted for a screening ultrasonography at 18–22 weeks.
  • A patient with a fetus with an NTD should be offered the management options of pregnancy termination, expectant management with neonatal surgical repair, and in utero fetal repair for appropriate candidates.
  • For the patient who elects to continue the pregnancy, genetic evaluation by amniocentesis for chromosomal microarray should be recommended because the identification of a genetic abnormality in a fetus with an NTD has important implications for counseling regarding prognosis, pregnancy management, and determining whether the patient is a candidate for in utero NTD repair.
  • Pregnant women with an ongoing, nonlethal fetal NTD should be referred to a tertiary center for full spectrum care, including maternal–fetal medicine in collaboration with neonatology, pediatric neurosurgery, and genetics.
  • Delivery of a fetus with nonlethal spina bifida should be planned to occur in a hospital that provides tertiary neonatal care and has personnel capable of managing the spinal defect and any immediate complications.
(B)
574

The following recommendations are based primarily on consensus and expert opinion.

  • Because it is not clear whether or how significantly the neurologic outcome is affected by the method of delivery in these infants, decisions about the timing and route of delivery should be made individually in consultation with personnel with experience and knowledge of NTDs.
  • Despite the maternal and obstetric risks, in utero repair is an option for women who meet appropriate criteria. Counseling should be nondirective and include all options, with full disclosure of all poten- tial benefits and risks for the fetus and woman, including the implications for future pregnancies.
(C)
574

Recommendation Grading

Overview

Title

Neural Tube Defects

Authoring Organization

Publication Month/Year

December 1, 2017

Last Updated Month/Year

January 5, 2023

Document Type

Consensus

External Publication Status

Published

Country of Publication

US

Inclusion Criteria

Female, Adolescent, Adult, Child, Infant, Older adult

Health Care Settings

Ambulatory

Intended Users

Physician, nurse midwife, nurse, genetics, nurse practitioner, physician assistant

Scope

Counseling, Assessment and screening, Management

Diseases/Conditions (MeSH)

D054259 - Neural Tube, D009436 - Neural Tube Defects

Keywords

NTD, neural tube defects, congenital anomaly