Threshold for neural tube defect risk by accumulated singleton loss-of-function variants

Neural Tube Defect and Folic Acid

نقص لوله عصبی یکی از ناهنجاریهای مادرزادی مهم و شایع می باشد که شیوع آن بیش از ۵/ ۴ در ۱۰۰۰ تولد زنده است. اتیولوژی و پاتوژنز بیماری هنوز ناشناخته است. مطالعات اخیر بر روی حیوانات نشان می دهد که این ناهنجاری ممکن است، ناشی از متابولیسم غیر طبیعی هموسیستئین باشد. در مطالعات اخیر مشخص شده است که پیشگیری از نقص لوله عصبی (NTD) بوسیله اسیدفولیک مؤثر می باشد.

caudal anesthesia for open bladder surgery in high-risk adolescent with scoliosis and neural tube defect

Prenatal Screening for Neural Tube Defect

Neural tube defect (NTD) is a serious congenital defect, but current methods for identifying NTD are limited. We used proteomic analysis of maternal serum to identify NTD-specific proteins whose levels differed between women with NTD fetuses (n = 50) and those with healthy fetuses (n = 40). Three NTD-specific protein peaks (8,130.6, 15,941.7, and 3,960.3 m/z) were identified using MALDI-TOF-mas...

Bringing clarity to the role of MTHFR variants in neural tube defect prevention.

The WHO recently released an evidence-informed guideline, “Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects” (1), for use in the implementation, monitoring, and impact evaluation of interventions for preventing neural tube defects (NTDs). The guideline reports the threshold values of red blood cell folate concentrations re...

normative values of intracranial translucency (it) thickness as an ultrasonographic marker for neural tube defect (ntd) screening in the iranian singleton pregnancies

conclusions we determined the normative values of it thickness for the iranian fetuses in a pilot study, which may be considered for ntd screening during the first-trimester in the national and international guidelines. it is important to determine normal measurements of different ultrasonographic and biochemistry markers nationally, since there are significant differences among various ethnici...