Craniorachischisis: first case reported in Madagascar

Rabarikoto, Hary Fanambinantsoa; Rakotozanany, P.; Tsifiregna, Rosa L.; Willy, Ratovondrainy; Randriambololona, Domoina Malala Aurelia

doi:10.18203/2320-6012.ijrms20181044

Cited by 2 publications

(12 citation statements)

References 12 publications

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“…Since it occurs at a very early gestational age, prenatal ultrasound assumes a crucial role in its prompt diagnosis. It constitutes a lethal congenital malformation with affected fetuses often miscarrying during the pregnancy or dying shortly after birth 1…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, association with other malformations or chromosomal abnormalities has been reported, such as trisomy 18, trisomy 11, Fryns syndrome and conjoined twins 1 2. While most cases of craniorachischisis reported in the literature are in association with syndromes, few cases are illustrated without further abnormalities 2 5…”

Section: Discussionmentioning

confidence: 99%

“…Before another pregnancy, parents were advised to undergo genetic counselling regarding the risk of recurrence of NTD. The couple was also referred to a preconceptive appointment and counselling was given regarding preventive measures in future pregnancies, namely on folic acid supplementation at a dose of 4 mg/day before conception and throughout the pregnancy to prevent recurrence of NTD 1 2…”

Section: Outcome and Follow-upmentioning

confidence: 99%

“…Craniorachischisis totalis is an extreme and rare example of defective closure of the neural tube during early embryogenesis where the entire brain and spinal cord remain open. It is the most severe form of neural tube defects (NTD) and is incompatible with life 1 2. Its prevalence is still unknown and there are only a few cases reported 1–3.…”

Section: Introductionmentioning

confidence: 99%

“…It is the most severe form of neural tube defects (NTD) and is incompatible with life 1 2. Its prevalence is still unknown and there are only a few cases reported 1–3. Several risk factors related to neural tube defects are known; however, the exact aetiology of this condition remains poorly understood due to its rarity.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of craniorachischisis totalis

2022

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Craniorachischisis totalis (anencephaly with total open spina biﬁda) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Outcome and Follow-upmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Prenatal diagnosis of craniorachischisis totalis

2022

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Craniorachischisis in a 33-week-old Female Fetus: A Case Report

2023

Acta Med Philipp

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We report the case of a 33-week-old female fetus born with craniorachischisis to a gravida 5, para 4 (3104) mother with no previous history of conceiving a child with a neural tube defect. Craniorachischisis is characterized by anencephaly and an open defect extending from the brain to the spine and is the most severe and fatal type of neural tube defect. Although the cause of neural tube defects is hypothesized to be multifactorial and is usually sporadic, the risk is increased in neonates born to mothers with a family history or a previous pregnancy with neural tube defect, both of which are not present in the index case. This case is unique in that only during the fifth pregnancy did the couple conceive a child with a neural tube defect, emphasizing that folic acid supplementation, the sole preventive measure proven to decrease the risk of neural tube defects, remains to be important in the periconceptual period for all women of childbearing age.

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Craniorachischisis: first case reported in Madagascar

Cited by 2 publications

References 12 publications

Prenatal diagnosis of craniorachischisis totalis

Prenatal diagnosis of craniorachischisis totalis

Craniorachischisis in a 33-week-old Female Fetus: A Case Report

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