Prenatal diagnosis of a neural tube defect: Meckel syndrome.
نویسندگان
چکیده
منابع مشابه
Meckel syndrome and the prenatal diagnosis of neural tube defects.
Two fetuses, terminated after prenatal diagnosis of aneural tube defect, had Meckel syndrome. There have now been three fetuses with this syndrome in a series of 35 terminated because of open lesions of the neural tube. It is suggested that such therapeutically aborted fetuses represent a highly selected group, among which a rare condition like Meckel syndrome will be concentrated. The need for...
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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...
متن کاملPrenatal diagnosis of neural tube defects.
A prospective program for the prenatal detection of neural tube defects in a high-risk pregnancy group has been under way for one year. Twenty high-risk mothers have undergone a complete prenatal work-up, including sonography, amniocentesis, and amniotic fluid and maternal serum alpha-fetoprotein quantitation. Within this group, two cases were prospectively diagnosed and were later confirmed.
متن کاملNeural tube defects--prenatal diagnosis and management.
Neural tube defects rank second to congenital heart disease as a major cause of congenital malformation. Recent developments in ultrasound have improved prenatal diagnosis. Due to anomaly scans at 18 weeks gestation and the availability of a genetic clinic, prenatal diagnosis of neural tube defects at the Royal Maternity Hospital was 91.2% during 1987-1989. However, only 50% of parents accept t...
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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.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1975
ISSN: 1468-6244
DOI: 10.1136/jmg.12.1.109