Dataset Information

Elevated maternal serum ?-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

ABSTRACT: BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by macrosomia, macroglossia, visceromegaly, and omphalocele and an increased risk of growing tumors. Prenatal and postnatal high levels of serum alpha-fetoprotein are associated with several diseases and neoplasms including hepatoblastomas and other hepatic tumors. The diagnosis of BWS is usually made in the postnatal period on the basis of physical exam features and hypermethylation of the H19 gene. CASE:A 30-year-old woman gravida 3, para 2, underwent maternal serum screening at 15 weeks' gestation. The screening was negative for Down's syn drome (risk 1/6085), but positive for NTDs. Further ultrasound examination at 20 and 30 weeks' evidenced a fetal overgrowth and a 3-D scan at 33 weeks' gestation presented a protruding tongue, and a fixed opened mouth caused by macroglossia. CONCLUSIONS:BWS was suspected on the basis of clinical features, and molecular analysis of critical region 11p15.5 revealing the hypermethylation of H19 gene supported the diagnosis.

SUBMITTER: Guanciali-Franchi P

PROVIDER: S-EPMC3414244 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

Guanciali-Franchi Paolo P Di Luzio Luisa L Iezzi Irene I Celentano Claudio C Matarrelli Barbara B Liberati Marco M Palka Giandomenico G

Journal of prenatal medicine 20120101 1

<h4>Background</h4>Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by macrosomia, macroglossia, visceromegaly, and omphalocele and an increased risk of growing tumors. Prenatal and postnatal high levels of serum alpha-fetoprotein are associated with several diseases and neoplasms including hepatoblastomas and other hepatic tumors. The diagnosis of BWS is usually made in the postnatal period on the basis of physical exam features and hypermethylation of the H19 gene.<h4>Case</h ...[more]

PMID: 22905304

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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

Elevated maternal serum ?-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

Publications

Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

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