Dataset Information

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

ABSTRACT: Alpha feto-protein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal period. During the second trimester of pregnancy, APF and betahCG serum concentrations are commonly used for screening Down syndrome. AFP deficiency is rare (estimated to be 1/105,000 newborns) and only one sequence alteration has previously been reported in the AFP gene. We report a new mutation in exon 5 of the AFP gene, leading to a total absence of AFP on 2nd-trimester maternal serum screening for Down syndrome, confirmed on the amniotic fluid. Despite this, fetal development and birth were normal. After PCR-amplification, the whole AFP gene was sequenced. The new mutation was a guanine to adenine transition in position 543 creating a premature stop codon in position 181. In order to search for eventual modifications of the amniotic fluid profile, proteins were separated by electrophoresis and compared with 10 normal amniotic fluids sampled at the same developmental age (18 weeks). In the amniotic fluid of our patient albumin rate was reduced whereas alpha1 and beta protein fractions were increased, suggesting that AFP deficiency may modify the distribution of protein fractions. This observation emphasizes the complex molecular mechanisms of compensation of serum protein deficiency. Studies on other families with AFP deficiency are necessary to confirm this observation.

SUBMITTER: Petit FM

PROVIDER: S-EPMC2986178 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Petit François M FM Hébert Marylise M Picone Olivier O Brisset Sophie S Maurin Marie-Laure ML Parisot Frédéric F Capel Liliane L Benattar Clarisse C Sénat Marie-Victoire MV Tachdjian Gérard G Labrune Philippe P

European journal of human genetics : EJHG 20081015 3

Alpha feto-protein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal period. During the second trimester of pregnancy, APF and betahCG serum concentrations are commonly used for screening Down syndrome. AFP deficiency is rare (estimated to be 1/105,000 newborns) and only one sequence alteration has previously been reported in the AFP gene. We report a new mutation in exon 5 of the AFP gene, leading to a total absence of AFP on 2nd-trimester maternal serum sc ...[more]

PMID: 18854864

Similar Datasets

Project description:BackgroundThere are controversies over the effects of Ramadan fasting on pregnancy outcomes, and women's perspectives of fasting are diverse. This study aimed to assess the perspectives and pregnancy outcomes of maternal Ramadan fasting in the second trimester of pregnancy.MethodsA case-control study was conducted at Hawler Maternity Teaching Hospital of Erbil, Iraq from October 2017 to January 2018. Out of 301 participating women, 155 fasted during the second trimester of their current pregnancy, while the remaining 146 did not. Mothers were asked concerning their fasting behaviors and perception of fasting during pregnancy. The main outcomes of this study were gestational diabetes, preterm labour, preeclampsia, low birth weight, Apgar score, height, weight, and head circumference of the newborn.ResultsAbout 80% of the women in the fasting group fasted for 21-29 days during Ramadan, out of whom 38.7% completed fasting for the entire Ramadan period. The results revealed that the decision to fast during pregnancy was negatively associated with the mother's educational level and occupation. Weight gain during pregnancy in the fasting women was approximately 0.4 kg less than those who did not fast. The incidence of gestational diabetes was 2.6% in the fasting women, while it was 8.3% in the non-fasting mothers (P = 0.02). Regression analysis showed that women who did not fast during the second trimester of pregnancy were 1.51 times more likely to develop gestational diabetes [odd ratio (OR) 1.51; 95% confidence intervals (CI) 0.06, 0.74, P = 0.01]. It was also found that among the women in the fasting categories, those who fasted for 21-29 days during pregnancy had a lower risk of gestational diabetes compared to the other groups. More than half of the mothers in the fasting group (60%) perceived that fasting during pregnancy was compulsory for healthy and non-healthy women, comparing with those who did not fast.ConclusionIt was found that fasting during the second trimester of the pregnancy decreased the risk of gestational diabetes and excessive weight gain during pregnancy. Most of Iraqi women did not fully recognize their right to be exempted from fasting during pregnancy by the Islamic law.

Dataset Information

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Publications

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets