Single-Step First Trimester Screening “Sooner the Better”

Purpose

To evaluate the role of single-step universal screening in first trimester and its effectiveness.

Materials and methods

Three thousand women attending antenatal clinic of Pt JNM Medical College, Raipur, were screened with 75 gm OGTT in their first trimester irrespective of their last meal, and those who were screened negative were again subjected to OGTT at 24–28 weeks. The women were followed throughout pregnancy till delivery. Any maternal or perinatal complications were noted.

Result

Overall incidence of GDM was 5.2 %. About 61.54 % women screened positive in first trimester. At 24–28 weeks, 38.46 % women were diagnosed with GDM. Women diagnosed in first trimester showed significantly low incidence of cesarean section rate (20.83 %), PIH (2.08 %), and macrosomia (14.44 %), in comparison to women diagnosed later in pregnancy.

Conclusion

The role of first trimester screening was found effective in reducing adverse maternal and perinatal outcomes in GDM.

     

Down Syndrome Screening in India: Are We There Yet?

Down syndrome is the most common cause of intellectual disability among live born children and is amenable to prenatal detection. Screening for Down syndrome on a population basis requires a thorough understanding of the principles involved in the screening tests. We discuss the rationale behind the commonly available screening tests and the Indian scenario in this setting.     

Options for Down Syndrome Screening: What Will Women Choose?

Down syndrome screening has been offered to pregnant women since the early 1980s. Protocols have changed as research confirmed improvements that result in higher detection rates and lower false-positive rates. Results from 2 clinical trials evaluating screening protocols that include ultrasound measurement of nuchal translucency and biochemical testing in the first and second trimester are now available. First-trimester screening is an option if there are adequate ultrasound, diagnostic, and counseling services available. Regional variation in the availability of these services may limit the implementation of first-trimester screening. Combining screening tests for Down syndrome from both trimesters as an integrated test offers the highest detection rate with the lowest false-positive rate. The possibility of avoiding a positive screen will make this an attractive option for some. Timing, detection rate, false-positive rates, and personal factors influence the decision women make regarding screening versus diagnostic testing. This article reviews the efficacy of current protocols for Down syndrome screening. Accurate information about available screening tests will facilitate informed decisions about screening and testing.     

Serum 25-Hydroxy Vitamin D Levels in Turkish Adolescent Girls with Polycystic Ovary Syndrome and the Correlation with Clinical/Biochemical Parameters

Study Objective

Polycystic ovary syndrome (PCOS) is a common endocrinopathy among female adolescents and young women. The aim of this study was to investigate the relationship between serum 25-hydroxy vitamin D (25[OH] D) levels and metabolic parameters and other characteristics of PCOS and non-PCOS adolescents.

First birth and the trajectory of women’s empowerment in Egypt

Background

Women’s empowerment is often used to explain changes in reproductive behavior, but no consideration is given to how reproductive events can shape women’s empowerment over time. Fertility may cause changes in women’s empowerment, or they may be mutually influencing. Research on women’s empowerment and fertility relies on cross-sectional data from South Asia, which limits the understanding of the direction of association between women’s empowerment and fertility in other global contexts. This study uses two waves of a panel survey from a prominent Middle Eastern country, Egypt, to examine the trajectory of women’s empowerment and the relationship between first and subsequent births and empowerment over time.

Methods

Using longitudinal data from the 2006 and 2012 Egyptian Labor Market Panel Survey, a nationally representative sample of households in Egypt, for 4660 married women 15 to 49 years old, multilevel negative binomial, ordinary least squares, and logistic regression models estimate women’s empowerment and consider whether a first and subsequent births are associated with empowerment later in life. Women’s empowerment is operationalized through four measures of agency: individual household decision-making, joint household decision-making, mobility, and financial autonomy.

Results

A first birth and subsequent births are significantly positively associated with all measures of empowerment except financial autonomy in 2012. Women who have not had a birth make 30% fewer individual household decisions and 14% fewer joint household decisions in 2012 compared to women with a first birth. There is also a positive relationship with mobility, as women with a first birth have more freedom of movement compared to women with no births. Earlier empowerment is also an important predictor of empowerment later in life.

Conclusions

Incorporating the influence of life events like first and subsequent births helps account for the possibility that empowerment is dynamic and that life course experiences shape women’s empowerment. This and the notion that empowerment builds over time helps portray women’s lives more completely, demonstrates the importance of empowerment early in the life course, and addresses issues of temporality in empowerment fertility research.

     

First trimester contingent test as a screening method for Down’s syndrome. A prospective study in the general population

Objectives: To evaluate the possibility of implementing a contingent test as a screening method for Down’s syndrome (DS) in the first trimester of pregnancy, and assess its sensitivity (Sen) and false positive rate (FPR). Methods: Prospective study covering a 4-year study period (July 2006–June 2010). Pregnant women were offered a combined test (CT) as the first step of a contingent test. An intermediate risk group is identified in the CT (1/101 and 1/1000) and offered an ultrasound assessment of secondary s (nasal bone, ductus venosus, tricuspid regurgitation). Results: CTs were performed on 10,452 pregnant women (24 cases of DS). In the intermediate risk group, which had 7 cases of DS, we performed secondary ultrasound marker assessment on 98.1% (1,017/1,036). The CT and the contingent test had a Sen of 83% (95% CI; 67.9–98) (20/24) and 70.8% (95% CI; 52.6–88.9) (17/24) with an FPR of 3% (95% CI; 2.7–3.3) (316/10,430) and 2% (95% CI; 1.7–2.3) (220/10,408), respectively. Conclusions: With the contingent test, we managed to reduce the FPR, but the Sen was too low for use as a screening method for DS.     

Granulosa Cell Tumor of the Ovary Accompanying with Ollier’s Disease: First Case of Contralateral Presentations

Objective

Granulosa cell tumor (GCT) is a rare entity of ovarian malignancies. Juvenile GCT is considered a malignant tumor with an indolent course and tendency toward late recurrence. However, the association of this tumor and multiple enchondromas has been reported.

Case Presentation

A 17-year-old female with abnormal uterine bleeding was referred to our center. Ultrasonographic evaluation revealed a mass with origin in right ovary. Patient was worked up to undergo salpingo-oophorectomy, she felt a dull pain in her left lower limb. X-ray imaging was indicative for Ollier’s disease at the distal part of femur and proximal part of tibia. Postoperative pathological review was compatible with juvenile granulosa tumor of the right ovary.

Conclusion

This case was the first of its kind that ovarian tumor was contralateral to the side involved by enchondromatosis.

     

Serum leptin concentrations in obese women with Down syndrome and Prader–Willi syndrome

We have evaluated serum leptin concentrations in two forms of genetic obesity. The subjects examined were eight women with Down syndrome and eight women with Prader-Willi syndrome. All patients were in the reproductive age range and were obese (body mass index ≥ 21 kg/m²). Plasma leptin values ,analyzed as a function of body mass index showed a statistically significant correlation in both Prader-Willi (r = 0.985; p < 0.001) and Down syndrome patients (r = 0.943; p < 0.001). Obese Down syndrome women exhibited significantly lower leptin values (10.8 ± 1.1) as compared to patients with Prader-Willi syndrome (31 ± 2.6; p < 0.01). The linear correlation between leptin and insulin in the two groups of patients was not statistically significant. The data suggested that obesity in Prader-Willi subjects could be caused by failure of leptin to reach its target in the brain ,as a consequence of defects in the receptor or in postreceptor processing ,whereas data on obese patients with Down syndrome could be due to a different pathogenetic origin.     

Pregnancy-Associated Plasma Protein A Levels in Late First Trimester Pregnancies with Small-for-Gestational Age Neonates: A Prospective Case–Control Study

Objective

We aimed to investigate the association of pregnancy associated plasma protein A (PAPP-A) levels in late first trimester with small for gestational age (SGA) neonates and adverse pregnancy outcomes in a low-income setting.

Methods

The inclusion criteria were late first trimester (11–13 + 6 weeks) women with singleton and non-anomalous pregnancy. Enrolled participants were sampled for PAPP-A and prospectively followed up for delivery outcome and antenatal complications. A multiple of median (MoM) was calculated and statistically compared between groups.

Results

Out of total 284 subjects, 14.54% delivered SGA babies and formed cases (Group A), 66.5% delivered appropriate for gestational age (AGA) neonates with uneventful antenatal period (controls, Group B), and 19.3% were AGA group with adverse pregnancy complications (Group C). The late first trimester median PAPP-A MoM was significantly lower (0.61) in Group A compared to Group B (1.47). Using receiver operating characteristic (ROC) curve for PAPP-A MoM, optimal cutoff value was found at 0.45 MoM, with positive predictive value of 56.2%, specificity of 92.6% and sensitivity of 45%. The median interquartile range (IQR) of PAPP-A MoM value in Group C in comparison with Group B was significantly lower except for abruption. At PAPP-A MoM cutoff value <1, <0.8, <0.6 and <0.4, the odds ratio for adverse pregnancy outcome was 8.30, 7.29, 10.97 and 10.60, respectively, indicating an inverse relationship.

Conclusion

With 0.45 MoM cutoff of PAPP-A, the detection rate, specificity and positive predictive value for SGA were 45, 92.6 and 56.2%, respectively. As PAPP-A MoM values decreased, the odds ratio of having adverse pregnancy outcomes increased.

     

Women’s experiences with vaginal examinations during labor in the Netherlands

Introduction: Vaginal digital examination (VE) is a routine medical procedure during labor to assess the start and progression of labor. This study explores women’s experiences with VE’s during labor in the Netherlands.

Methods: An exploratory anonymous online survey was distributed among Dutch women who underwent a trial of labor and gave birth to a living term child in the previous six months. Unadjusted odds ratios are calculated to establish associations between women’s characteristics and reporting a negative experience with VE's.

Results: Of the 159 women who met the inclusion criteria, 56 women (35.2%) reported a negative experience with the VE. These women reported more pain, embarrassment, not being able to relax, not feeling respected and not feeling the possibility to stop the examination. The odds of reporting negative experiences increased by giving birth in hospital, an instrumental delivery, more examinations, more different caretakers performing the examination and caregivers not introducing themselves before the examination. About 41.7% of the women reported being examined more often than advised in national and international guidelines (every two to four hours).

Discussion: Although our study is limited, it shows that experiences with the VE during labor can be negative and should be considered carefully. We promote research of and teaching the use of additional noninvasive methods to assess progression of labor in daily clinical practice. We conclude that the number of VE’s during labor should be restricted as much as possible. VE’s should only be performed in the interest of the woman in labor, after her informed consent and preferably performed by as few different caregivers as possible.     

Pregnancy outcome in patients with Takayasu’s arteritis: cohort study and review of the literature

Objective: The objective of this study is to investigate the clinical features of pregnancy in women with Takayasu’s arteritis managed in a tertiary medical center and review the literature in order to establish the course and recommended follow up and treatment for these pregnancies.

Materials and methods: Retrospective analysis of 20 pregnancies in 6 women with Takayasu’s arteritis. Patients were recruited from the high risk pregnancy clinics at Sheba Medical Center, where follow up included strict control of blood pressure and treatment of obstetric and disease-related complications.

Results: Mean maternal age was 29.3?±?3 years. Thirty-six patients had both supra and infradiaphragmatic arterial disease, of them two had an abdominal aorta involvement and three out of six patients had an isolated supradiaphragmatic disease. Of 20 pregnancies, six pregnancies (30%) resulted in early spontaneous miscarriages, and one pregnancy was terminated at 17 weeks due to fetal anomalies. The remaining 13 pregnancies (65%) resulted in live births. Three out of 13 (23%) neonates were small-for-gestational-age. The most common complication was maternal hypertension affecting 8/13 (61.5%) pregnancies. Preeclampsia occurred in one pregnancy. Four out of 13 (30.7%) pregnancies necessitated preterm induction of labor due to obstetric indications or uncontrolled disease.

Conclusions: Although Takayasu’s arteritis is associated with pregnancy complications, tight preconception disease control, strict follow up, and targeted treatment of high blood pressure can result in positive pregnancy outcome.     

Pregnancy outcomes in women with Ebstein’s anomaly

Objectives

To evaluate whether women with Ebstein’s anomaly can tolerate pregnancy and whether the perinatal outcomes are influenced by the severity of Ebstein’s anomaly.

Methods

Data of four women with Ebstein’s anomaly delivered in our unit were collected and analyzed retrospectively.

Results

(1) Two women with Ebstein’s anomaly had uneventful pregnancies, cesarean section and puerperium. (2) The patient with the most serious Ebstein’s anomaly (with central cyanosis and clubbing) had an episode of paroxysmal ventricular tachycardia and spontaneous cardioversion to sinus rhythm on day 4 postpartum. She developed intracerebral hemorrhage on day 25 postpartum. (3) One of them suffered from atrial flutter on 38?+?3?weeks of gestation which was restored to sinus rhythm after being treated with verapamil and remained stable afterward. (4) All neonatal birth weights were more than 2,500?g, and all neonatal Apgar scores were 10 at 1?min. (5) The gestational age at delivery of our cases was from week 36?+?4 to week 38?+?4. The mean duration of follow-up was 56?days postpartum.

Conclusions

(1) The clinical features of pregnant women with Ebstein’s anomaly vary. They might have good perinatal outcomes when given appropriate treatment. (2) Those with cyanosis should be given more attention, as they can have more complications during pregnancy, delivery and puerperium. (3) All women with Ebstein’s anomaly should be offered fetal echocardiography during pregnancy. (4) Vaginal delivery is advised for most cases with Ebstein’s anomaly.     

Analysis of three different strategies in prenatal screening for Down’s syndrome in twin pregnancies

Abstract

Objectives: To compare the performance of three different strategies in prenatal screening for Down’s syndrome in twins [nuchal translucency, the combined test, the combined test?+?ductus venosus pulsatility index (DVPI)].

Methods: We included 277 twin pregnancies with two cases of trisomy 21 (both dichorionic). We performed a computer simulation of Down’s syndrome NT screening, combined test screening and the combined test with the addition of DVPI screening using the commercialized software SsdwLab6. The strategies were compared using the area under the receiver operating characteristic curve.

Results: NT screening false-positive rate (FPR) was 10.9% (95% CI: 8.3–13.5). The combined test FPR was 6.2% (95% CI: 4.1–8.2%) and the combined test plus DVPI was 6% (95% CI: 4–8). FPR was higher in advanced maternal age patients. Detection rate was 100% in all cases. The area under the curve was 0.987 (95% CI: 0.972–0.994) in NT screening; 0.987 (95% CI: 0.978–0.997) in the combined test and 0.983 (95% CI: 0.977–0.996) in the combined test?+?DVPI.

Conclusions: Down’s syndrome screening is feasible in twins with low FPR. The results of this study are similar to the results achieved in singletons. The combined test appears to be the most effective. The addition of DVIP does not significantly improve the prenatal screening for trisomy 21.     

Comparative cytogenetic analysis in two tissues with different lineage in Turner’s syndrome patients: correlation with phenotype

Objective: To analyze karyotype of Turner’s syndrome (TS) patients in two tissues of different lineage, and to correlate them with phenotype.

Study design: An observational study was designed at the Gynaecological Endocrinology Unit of Hospital Clinic in Barcelona. Patients diagnosed with TS by blood karyotype were included, between 20 and 50 years of age. A new 50-cell count blood karyotype and a urethral cell karyotype from urine samples were performed. Data on some TS-related comorbidities were collected.

Results: Twenty-seven TS patients were included. Urine cultures of 12 patients were contaminated by microorganisms. With 50-cell count blood karyotype, three cryptic mosaicisms were found. Six patients with mosaicism in blood karyotype showed pure monosomy in urine karyotype. Correlations exist between blood karyotype and phenotype where spontaneous menarche, height, dysmorphology, congenital malformations and hypothyroidism are concerned, whereas they did not appear in urine analysis.

Conclusions: Karyotyping T-lymphocytes in blood samples is the gold standard technique. 50-cell count may be considered if TS or ovarian failure is suspected, in order to detect cryptic mosaicisms. Urethral cell culture from urine samples presents technical difficulties and some limitations, due to the easier lost of abnormal X-chromosome. A partial correlation between blood karyotype and phenotype exists.