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A STILL BORN BABY WITH CRANIAL VAULT DEFECTS

KY Loh¹ MMed(FamMed); I Nazimah² MOG
¹Department of Clinical Science, Universiti Tunku Abdul Rahman, Bandar Sungai Long, 43000 Kajang, Malaysia  (Loh Keng Yin)
²Department of Obstetric & Gynecology, International Medical University, 70300 Seremban, Malaysia (Nazimah  Idris)

Address for correspondence: Dr Loh Keng Yin, Department of Clinical Science, Universiti Tunku Abdul Rahman, Bandar Sungai Long, 43000 Kajang, Selangor, Malaysia. Tel: 012-237 3328, Email: manjusri_loh@yahoo.com, nazimahidris@hotmail.com

Loh KY, Nazimah I. A still born baby with cranial vault defects. Malaysian Family Physician. 2011;6(1):38-39

CASE HISTORY

A 40-year-old-mother presents to the antenatal clinic with uterus size larger than gestational age. The gestational age is 32 weeks but uterine size corresponds to term size. She comes from a rural village without any early antenatal booking. Ultrasound confirmed polyhydramnios and fetal abnormality. She has no significant past medical history. Two weeks later she delivers her baby via spontaneous vaginal delivery. The baby is still born (Figure 1).

QUESTION

1. Describe the abnormalities present in the newborn and state the diagnosis.
2. What is the pathogenesis of this condition?
3. What are the risk factors for this condition?
4. What are the preventive measures which can be implemented prior to pregnancy?

(Original photo taken by the authors)

ANSWER:

1. The photo shows a developmental defect of the baby’s skull. The brain and cranial vault are severely deformed. The fore brain (Cerebrum) appears hypoplastic and malformed and it is exposed without the covering of the cranial vault. The diagnosis is anencephaly. The reported prevalence of anencephaly was 1.29 per 1000 births in Malaysia which is not different from that reported in developed countries.¹
2. Anencephaly is a form of neural tube defects which usually occurred during the 3rd to 4th week of embryo development. It is caused by the failure of closure of the neural tube at the cranial end of the embryo.² It is usually multifactorial but genetic factors such as MTHFR gene (5,10-methylenetetrahydrofolate reductase) and VANGL1 (Vang-like 1) protein have been known to be associated with this condition.^3,4
3. Among the common risk factors for anencephaly are: maternal diabetes mellitus, previous history and family history of neural tube defect, folate deficiency and valproic acid treatment of epilepsy in pregnancy. ^1,4,5
4. There is enough evidence that adequate intake of folic acid prior to pregnancy can minimize the risk of anencephaly. Women of reproductive age are recommended to consume 0.4 mg folic acid daily.^1,5,6 The dosage should be increased in pregnant mother who are in the high risk group especially those with past history and family history of anencephaly. Folic acid is best to be consumed three months prior to conception and continue through first trimester. Study has shown that women who consume adequate folic acid has reduce incidence of open neural tube defect up to 25%.^5,6

REFERENCES

1. Ho JJ. Folic acid in the prevention of neural tube defect – a programme for Malaysia? Med J Malaysia. 2004;59(1):94-9. [PubMed]
2. Campbell LR, Dayton DH, Sohal GS. Neural tube defects: a review of human and animal studies on the etiology of neural tube defects. Teratology. 1986;34(2):171-87. [PubMed]
3. Kibar Z, Torban E, McDearmid JR, et al. Mutations in VANGL1 associated with neural-tube defects. N Engl J Med. 2007;356(14):1432-7. [PubMed] [Full text]
4. Oakley GP Jr. The scientific basis for eliminating folic acid-preventable spina bifida: a modern miracle from epidemiology. Ann Epidemiol. 2009;19(4):226-30. [PubMed]
5. Berry RJ, Li Z, Erickson JD, et al. Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med. 1999;341(20):1485-90. [PubMed] [Full text]
6. Centers for Disease Control and Prevention (CDC). Spina bifida and anencephaly before and after folic acid mandate - United States, 1995-1996 and 1999-2000. MMWR Morb Mortal Wkly Rep. 2004;53(17):362-5. [PubMed] [Link]