Analyze indications and type of prenatal diagnostic procedures performed. Method: This retrospective audit was conducted at a dedicated fetal medicine center in Petaling Jaya. All invasive prenatal diagnosis procedures performed from 2003 up until 2010 (amniocentesis, chorionic villous sampling and fetal blood sampling) were analyzed.

INTRODUCTIONHoloprosencephaly (HPE) is an uncommon congenital failure of forebrain development. Although the aetiology is heterogeneous, chromosomal abnormalities or a monogenic defect are the major causes, accounting for about 40% to 50% of HPE cases. At least 7 genes have been positively implicated, including SHH, ZIC2, SIX3, TGIF, PTCH1, GLI2, and TDGF1.

CLINICAL PICTURETwelve antenatally- and 1 postnatally-diagnosed cases are presented in this study. These comprised 6 amniotic fluid, 3 chorionic villus, 2 fetal blood, 1 peripheral blood, and 1 product of conception.

OUTCOMEThe total chromosome abnormality rate was 92.3%, comprising predominantly trisomy 13 (66.7%). There was 1 case of trisomy 18, and 3 cases of structural abnormalities, including del13q, del18p, and add4q.

CONCLUSIONDespite the poor outcome of an antenatally-diagnosed HPE and the likely decision by parents to opt for a termination of pregnancy, karyotyping and/or genetic studies should be performed to determine if a specific familial genetic or chromosomal abnormality is the cause. At the very least, a detailed chromosome analysis should be carried out on the affected individual. If the result of high resolution karyotyping is normal, Fluorescence in situ hybridisation (FISH) and/or syndrome-specific testing or isolated holoprosencephaly genetic testing may be performed. This information can be useful in making a prognosis and predicting the risk of recurrence.

Adult ; Chromosome Aberrations ; Female ; Holoprosencephaly ; diagnosis ; genetics ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; Trisomy

BACKGROUND/OBJECTIVES: Recently, the recommended nutrient intakes (RNI) for vitamin D for Malaysian aged 1–70 yrs has been revised from 5 µg/day to 15 µg/day. This study is aimed to assess the adequacy of vitamin D intake based on revised RNI and to recommend several dietary strategies to increase total vitamin D intake. SUBJECTS/METHODS: Vitamin D intake from both food and supplement of 217 pregnant women was assessed using a validated food frequency questionnaire. Hypothetical effect of expanded supplementation and food fortifications strategies were modelled using the consumption data. RESULTS: The results revealed that more than half (67.7%) of pregnant women had inadequate vitamin D intake (RNI < 15 µg/day). The modelling results demonstrated the potential of universal provision of 10 µg/day of multivitamins supplements in increasing vitamin D intake.Moreover, mandatory fortification of both milk and malted drink at single level of 5 µg/serving would lead to increase in vitamin D intake of Malaysians, particularly pregnant women. CONCLUSIONS The outcome of this study can be used as a reference for public health professionals to re-evaluate the existing Malaysian food fortification policies and supplementation recommendation for vitamin D for pregnant women.

BACKGROUND/OBJECTIVES: Recently, the recommended nutrient intakes (RNI) for vitamin D for Malaysian aged 1–70 yrs has been revised from 5 µg/day to 15 µg/day. This study is aimed to assess the adequacy of vitamin D intake based on revised RNI and to recommend several dietary strategies to increase total vitamin D intake. SUBJECTS/METHODS: Vitamin D intake from both food and supplement of 217 pregnant women was assessed using a validated food frequency questionnaire. Hypothetical effect of expanded supplementation and food fortifications strategies were modelled using the consumption data. RESULTS: The results revealed that more than half (67.7%) of pregnant women had inadequate vitamin D intake (RNI < 15 µg/day). The modelling results demonstrated the potential of universal provision of 10 µg/day of multivitamins supplements in increasing vitamin D intake.Moreover, mandatory fortification of both milk and malted drink at single level of 5 µg/serving would lead to increase in vitamin D intake of Malaysians, particularly pregnant women. CONCLUSIONS The outcome of this study can be used as a reference for public health professionals to re-evaluate the existing Malaysian food fortification policies and supplementation recommendation for vitamin D for pregnant women.