Neural tube defects: A need for population-based prevention program

نویسندگان

  • Shubha Phadke
  • Meenal Agarwal
چکیده

through spinal defect and histopathological fi ndings.[2] Majority of NTDs are isolated/non-syndromic and are not associated with other congenital malformations. However in about 10% of the cases, NTD can be a part of genetic syndrome hence may follow Mendelian inheritance. The syndromes associated with neural tube defects include Walker-Warburg syndrome, Jarcho-Levin syndrome, Robert syndrome and Meckel-Gruber syndrome. Rarely, NTD can be associated with chromosomal abnormalities including trisomy 13 and 18, triploidy and other chromosomal rearrangement.[2] Association of these genetic syndromes are important to assess as fi nal outcome and risk of recurrence in these families depends upon the individual syndrome. In syndromes with autosomal recessive inheritance, risk of recurrence in the siblings of affected individual is 25% while isolated NTD follow multifactorial inheritance pattern. Risk of recurrence in the siblings of isolated cases of NTD is 2%-5% after one affected child and 10% after the birth of two affected children.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Population red blood cell folate concentrations for prevention of neural tube defects: bayesian model

OBJECTIVE To determine an optimal population red blood cell (RBC) folate concentration for the prevention of neural tube birth defects. DESIGN Bayesian model. SETTING Data from two population based studies in China. PARTICIPANTS 247,831 participants in a prospective community intervention project in China (1993-95) to prevent neural tube defects with 400 μg/day folic acid supplementation ...

متن کامل

Birth prevalence of selected external structural birth defects at four hospitals in Dar es Salaam, Tanzania, 2011–2012

BACKGROUND 94% of all birth defects (BD) and 95% of deaths due to the BD occur in low and middle income countries, many of which are preventable. In Tanzania, there is currently a paucity of BD data necessary to develop data informed prevention activities. METHODS A cross-sectional analysis was conducted of deliveries identified with BD in the labor ward registers at four Dar es Salaam hospit...

متن کامل

The Metropolitan Atlanta Congenital Defects Program: 35 years of birth defects surveillance at the Centers for Disease Control and Prevention.

BACKGROUND The Metropolitan Atlanta Congenital Defects Program (MACDP) is a population-based birth defects surveillance program administered by the Centers for Disease Control and Prevention (CDC) that has been collecting, analyzing, and interpreting birth defects surveillance data since 1967. This paper presents an overview of MACDP current methods and accomplishments over the past 35 years. ...

متن کامل

Preventing neural tube defects in Europe: population based study.

Each year, more than 4500 pregnancies in the European Union are affected by neural tube defects. Unambiguous evidence of the effectiveness of periconceptional folic acid in preventing neural tube defects has been available since 1991, and improving folate status sufficiently could result in the prevention of more than two thirds of all neural tube defects. We report on trends in the prevalence ...

متن کامل

I-8: Folic Acid and Female Fertility in Natural and Assisted Reproduction

Background Pre-conceptional supplementation with folic acid is recognized as essential for the prevention of neural tube defects. However, the reproductive effects of folic acid may extend well beyond this well-recognized effect and may have an important role in improving fertility and survival of the conceptus and fetus. MaterialsAndMethods We evaluated the association between pre-conceptional...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 18  شماره 

صفحات  -

تاریخ انتشار 2012