DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype-phenotype variability in fetal ultrasound and MRI.

Objective: The aim of the study was to assess genotype-phenotype correlation of prenatally diagnosed fetal DGS and dup22q11 syndrome by fetal molecular genetic analysis, fetal ultrasound, and/or MRI.

Methods: In this retrospective consecutive case series, pregnant women were screened for fetal anomalies during a period of 10 years. Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal phenotypic features: cardiac anomalies, hypo/aplastic thymus, craniofacial malformations, urinary abnormalities, or IUGR; genotype-phenotype correlation was tested to potentially improve prenatal diagnosis of fetal DGS and dup22q11 syndrome.

Combination of first trimester serum afamin levels and three-dimensional placental bed vascularization as a possible screening method to detect women at-risk for adverse pregnancy complications like pre-eclampsia and gestational diabetes mellitus in low-risk pregnancies.

Objective: Aim of the study was to assess the correlation of first trimester serum afamin levels with three-dimensional placental bed vascularization in pregnant women and its prognostic value for predicting pre-eclampsia and future fetal and maternal complications during pregnancy.

Methods: In this nested case-control study all pregnant women registered for delivery during a period of 3 years were routinely screened in the first trimester. Serum afamin levels were assessed in 764 women and correlated to 5 pregnancy outcome groups: gestational hypertension (n = 76), pre-eclampsia (n = 33), intrauterine growth restriction (n = 91), pre-term birth (n = 39), gestational diabetes mellitus (n = 170); In addition, measurements of first trimester myometrial vascularization index were performed and, in combination with afamin tested as a possible screening method to detect women at-risk for the development of adverse complications in low-risk pregnancies at the time of the first trimester.

First trimester serum afamin concentrations are associated with the development of pre-eclampsia and gestational diabetes mellitus in pregnant women.

Objective: Aim of this study was to assess the prognostic capability of afamin to predict pregnancy complications.

Method: First-trimester screening was consecutively performed in 4948 pregnant women, of whom 474 women developed pregnancy complications [gestational hypertension (n=84), pre-eclampsia (n=30), intrauterine growth restriction (n=107), preterm birth (n=44), and gestational diabetes mellitus (n=209)]. To each woman with pregnancy complications an uncomplicated pregnancy was matched for body mass index.

First Trimester Vaginal Ureaplasma Biovar Colonization and Preterm Birth: Results of a Prospective Multicenter Study.

Background: While there is a proven association of upper genital tract Ureaplasma infection during pregnancy with adverse pregnancy outcome, the effect of vaginal Ureaplasma colonization on preterm delivery has been controversially debated.

Objectives: We hypothesized that women with isolation of vaginal U. parvum but not U.

MATERNAL HEIGHT AND PRE-PREGNANCY WEIGHT STATUS ARE ASSOCIATED WITH FETAL GROWTH PATTERNS AND NEWBORN SIZE.

The impact of maternal height, pre-pregnancy weight status and gestational weight gain on fetal growth patterns and newborn size was analysed using a dataset of 4261 singleton term births taking place at the Viennese Danube Hospital between 2005 and 2013. Fetal growth patterns were reconstructed from three ultrasound examinations carried out at the 11th/12th, 20th/21th and 32th/33th weeks of gestation. Crown-rump length, biparietal diameter, fronto-occipital diameter, head circumference, abdominal transverse diameter, abdominal anterior-posterior diameter, abdominal circumference and femur length were determined.

Smoking prevalence among pregnant women from 2007 to 2012 at a tertiary-care hospital.

Unlabelled: The harmful effects of smoking during pregnancy are well known, but we lack prevalence data concerning this subject in Austria. The aim ofz the present study was to determine the prevalence and any changes in the prevalence of smoking during pregnancy in the last few years. The investigation was conducted at a perinatal center in Vienna, Austria.

The vitamin E-binding protein afamin increases in maternal serum during pregnancy.

Background: Afamin is a liver-derived plasma glycoprotein with vitamin E-binding properties and a putative function in fertility. This study evaluated serum afamin concentrations during and postpartum to uncomplicated pregnancies and investigated a potential association between afamin concentrations and pregnancy outcome.

Methods: Afamin serum concentrations were measured in women with uncomplicated pregnancies in a retrospective cohort (n=466) at different gestational ages and a prospective observational study (n=76) in the first, second and third trimester.

Carriage of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism does not influence the first and second trimester uterine artery Doppler flow.

Objective: MTHFR C677T polymorphism is a genetic factor increasing both risk factors for atherosclerotic vascular diseases and obstetric complications like preeclampsia (PE) and fetal growth restriction (FGR). Increased uterine artery impedance, measured by uterine artery Doppler in the second trimester of pregnancy is also associated with PE and FGR. In this study we aimed to analyze whether MTHFR influences first and second trimester uterine artery impedance.

Interleukin-10 -1082 G/A promoter polymorphism and pregnancy complications: results of a prospective cohort study in 1,616 pregnant women.

Objective: To investigate the frequency of the interleukin-10 (IL-10)-1082 G/A single nucleotide polymorphism in women with intrauterine fetal death (IUFD), pre-eclampsia (PE), preterm delivery (PD), and small for gestational age (SGA) infants.

Methods: In a prospective cohort study, DNA from 1,616 consecutive pregnant women was analyzed for IL-10 -1082 G/A by polymerase chain reaction. Women who developed at least one of the predefined pregnancy complications were used as cases and compared to women without pregnancy complications.

Interleukin 6-174 G/C promoter polymorphism and pregnancy complications: results of a prospective cohort study in 1626 pregnant women.

Problem: To investigate the frequency of the interleukin-6 (IL-6) -174 G/C single nucleotide polymorphism (SNP) in women with intrauterine fetal death (IUFD), pre-eclampsia (PE), preterm delivery (PD), and small for gestational age (SGA) infants.

Method Of Study: In a prospective cohort study, DNA from 1626 consecutive pregnant women was analyzed for IL-6 -174 G/C. Women who developed at least one of the predefined pregnancy complications were used as cases and compared with women without pregnancy complications.

A tumor necrosis factor-alpha promoter polymorphism and pregnancy complications: results of a prospective cohort study in 1652 pregnant women.

The purpose of this article is to investigate the frequency of the tumor necrosis factor-alpha (TNF-alpha) -308 G/A single nucleotide polymorphism in women with intrauterine fetal death, preeclampsia, preterm delivery, and small-for-gestational-age (SGA) infants. In a prospective cohort study, DNA from 1652 consecutive pregnant women was analyzed for TNF-alpha -308 G/A by polymerase chain reaction. Women who developed at least 1 of the predefined pregnancy complications were used as cases and compared to women without pregnancy complications.

Methylenetetrahydrofolate reductase C677T polymorphism and pregnancy complications.

Objective: To investigate the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in women with intrauterine fetal death, preeclampsia, preterm delivery, and small for gestational age (SGA) infants.

Methods: In a prospective cohort study, DNA from 2,000 pregnant women were analyzed for MTHFR C677T by DNA microarray (wild-type allele, C; mutant allele, T).

Results: One thousand six hundred seventy-five women completed the study.

Absence of an association of tumor necrosis factor (TNF)-alpha G308A, interleukin-6 (IL-6) G174C and interleukin-10 (IL-10) G1082A polymorphism in women with preeclampsia.

Objective: TNF-alpha G308A, IL-6 G174C and IL-10 G1082A polymorphisms have recently been associated with preeclampsia (PE). The aim of this study was to clarify whether the occurrence of TNF-alpha, IL-6 and IL-10 polymorphisms is increased in women of our population with PE in a previous pregnancy.

Methods: A retrospective, controlled, open, multicenter study was carried out in 107 women with a history of PE and 107 women with uncomplicated pregnancies.

Association of congenital cardiac defects and the C677T methylenetetrahydrofolate reductase polymorphism.

Objective: MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects. A common missense mutation in the MTHFR gene (C to T substitution at position 677) produces a variant with reduced enzymatic action. The aim of this retrospective case control study was to investigate whether the occurrence of the MTHFR polymorphism is increased in mothers and fathers of children with a congenital heart disease (CHD) in our population.

Postdelivery levels of anti-D IgG prophylaxis in D- mothers depend on maternal body weight.

Background: Current recommendations for anti-D prophylaxis for women who deliver a D+ offspring vary from country to country, and the introduction of new reagents require pharmacokinetic studies that show serum levels after the injection. Serum levels of anti-D may depend on the maternal body mass index (BMI).

Study Design And Methods: Serum concentrations of total anti-D IgG and IgG1-4 subclasses were determined by flow cytometry in 26 D- women, who had received prophylaxis after delivery of a D+ offspring.

A sonographic study of perinatal hip development: from 34 weeks of gestation to 6 weeks of age.

A sonographic study of perinatal hip development was performed by consecutive measurement of Graf's alpha and beta angles in fetal and newborn hips. The study group consisted of infants with sonographically normal hip findings at birth. Forty fetuses were examined by fetal hip sonography at 34, 36 and 38 weeks of gestation.

Triploidy in a twin pregnancy: small placenta volume as an early sonographical marker.

Introduction: We report a case of a twin pregnancy with triploidy of maternal phenotype of one foetus and no chromosomal anomaly of the other twin and the role of sonographical placental volumetry.

Case: At 12 weeks of gestation, a dichorionic twin pregnancy discordant in growth is diagnosed. 3D ultrasound reveals a distinctly small placental volume of foetus II.