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Case 402


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Pregnant, 34-years-old, in her fourth pregnancy, gestational age of 24 weeks, with no remarkable medical history, showing well development of pregnancy, of habitual risk. Folic acid was not supplemented in pre-conceptional period. The patient was referred to Fetal Medicine service due to ultrasound finding in the second trimester, performed in the 22º week. No other structural abnormality was observed.

Considering the clinical history and images presented, what is the better medical conduct?

a) To maintain ultrasound follow-up to assess the condition and monitor the level of folate in maternal blood.

25%

b) To request amniocentesis to evaluate the fetal karyotype due to the high probability of genetic syndrome.

25%

c) To advise the patient on the possibility of intrauterine correction of the pathology.

25%

d) To request maternal measurement of serum alpha-protein to assist the confirmation of the diagnosis.

25%
   

Image analysis

Image 1: Ultrasound of fetal vertebral column, showing lumbosacral portion, performed in 24º week. It was revealed a neural tube protrusion (red arrows) in direction to amniotic cavity due to failure in the posterior arch fusion after L4 (blue arrow). It is notable the anechoic presence in the protrusion, what is related to the presence of cerebrospinal fluid. Such findings indicate the diagnosis of myelomeningocele.

Highlights

- Myelomeningocele, or Spina Bifida, is the most common neural tube defect, with estimated incidence of 1 to 1000 newborns in Brazil;

- The etiology is multifactorial, and involves factors such as hyperthermia in the beginning of pregnancy, diabetes, maternal obesity, and acid folic inadequate metabolism;

- The lesion occurs between the third and fourth weeks of gestation, due to the lack of closure of the posterior arch of neural tube;

- Prenatal follow-up is essential to prevent and detect precociously maternal-fetal pathologies, allowing a good fetal development and lower risks for the pregnant woman;

- Fetal surgery of myelomeningocele has evolving in the last years, demanding a critical evaluation of the benefits of the procedures and the possible risks to maternal and fetal health.

References

- “MOMS trial”:Adzick NS, Thom EA, Spong CY, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011;364(11):993-1004. doi:10.1056/NEJMoa1014379

- Botelho RD, Imada V, Rodrigues da Costa KJ, et al. Fetal Myelomeningocele Repair through a Mini-Hysterotomy. Fetal Diagn Ther. 2017;42(1):28-34. doi:10.1159/000449382

- Bizzi JWJ, Machado A - Mielomeningocele: conceitos básicos e avanços recentes. J Bras Neurocirurg 23(2):138-151, 2012

- Wilkins-Haug L; Dukhovny S. Open neural tube defects: Risk factors, prenatal screening and diagnosis, and pregnancy management. Post TW, ed. UpToDate. Waltham, MA: UpToDate Inc. https://www.uptodate.com (Accessed on August 01, 2020.)

Author

Marcela Chagas Lima Mussi, 4th year medical student at Universidade Federal de Minas Gerais.

Mail: marcela.mussi[at]hotmail.com

Supervisors

Marianna Amaral Pedroso, Gynaecologist and Obstetrician, specialist in Fetal Medicine.

mp[at]nestmedicinafetal.com

 

Júlio Guerra Domingues, radiologist and professor of the Department of Anatomy and Image at Universidade Federal de Minas Gerais.

Mail: jgdjulio[at]gmail.com.br

Acknowledgement

To Dr. Fábio Batistuta, for the photographs kindly sent for the illustration of the conduct stablished in this case.

Reviewers

Lara Hemerly De Mori, Rafael Arantes, Mariana Mestriner, Ana Clara Caldas, Camila Storch.

Translated by

Marcela Chagas Lima Mussi, 4th year medical student at Universidade Federal de Minas Gerais.

Mail: marcela.mussi[at]hotmail.com

Test question

(USP – 2020) Medical residency

Patient with one 1-year-old son, desires new pregnancy and demands preconception counseling. A photograph of the child, as newborn, is observed:

What is the specific orientation related to this case?

a) Genetic counseling with karyotype of the couple.

25%

b) Serology for cytomegalovirus, toxoplasmosis, herpes.

25%

c) Research on methylene tetrahydrofolate reductase mutation.

25%

d) Pre-conceptional folic acid supplementation.

25%

e)

25%
   

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