Are nuchal translucency,pregnancy associated plasma protein-A or free-β-human chorionic gonadotropin depending on maternal age? A multicenter study of 8,116 pregnancies

Introduction First-trimester screening according to Nicolaides uses maternal age to obtain a common background risk for trisomy 21. The likelihood ratios by nuchal translucency, free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A are not with respect to maternal age. It was the aim of this study to investigate if likelihood ratios should better take care of it. Materials Pearson’s correlation and different models of regression analysis had been performed on the results of 8,116 first-trimester screenings. The total number of pregnancies was subdivided into three subgroups of healthy fetuses (n = 8,038); fetuses with Down’s syndrome (n = 46) and fetuses with other genetic abnormalities (n = 32). Statistical testing was applied to each of the three groups. Results Strong independence from maternal age could be found for each of the first-trimester screening measurement parameter, as well for healthy and as for affected fetuses. Neither Pearson’s test nor nonlinear regression models could detect a correlation. Accordingly significance of Pearson’s test is not given. Discussion First-trimester screening would not be improved by considering the maternal age in the calculation of the likelihood ratios. Therefore the currently used algorithm is adequate. According, to the results, it seems to be proper as well to disregard the maternal age in newer test strategies advanced first-trimester screening (AFS) at all.     

Therapeutic options for adenomyosis: a review

Background To review the literature on various therapeutic modalities for uterine adenomyosis. Methods Reviews, case-controlled studies and reports from November 1949 until August 2006 written in English or summarized in English abstracts retrieved from Medline and Pubmed using the key words: adenomyosis and adenomyosis therapy. Results Symptoms of adenomyosis may be alleviated by antiprostaglandins, sex hormones, danazol and GnRH analogs. Minor surgical procedures for therapy include endomyometrial ablation, laparoscopic myometrial electrocoagulation and adenomyoma excision. Patient’s age and symptoms, desired fertility, site and extent of lesion and surgeon’s skills should be considered in choosing the appropriate procedure. Endomyometrial ablation is effective for lesions deeper than the endometrial–myometrial junction whereas the efficacy of hysteroscopic ablation is limited to foci 2–3 mm deep. Focal and diffuse disease may be managed by laparoscopic electrocoagulation or myometrial excision with preservation of fertility but risk of recurrence exists. Uterine artery embolization assumingly invokes infarction and necrosis. Encouraging results reported in some cases warrant expanding its use for more experience. Hysterectomy is the ultimate solution for women with deep myometrial involvement or if future fertility is not desired. Conclusions Various therapeutic options for adenomyosis, including few minimally invasive procedures became available in the last two decades but need evaluation and improvement.     

Comparison of Nicolaides’ risk evaluation for down’s syndrome with a novel software: an analysis of 1,463 cases

Objective The individual risk assessment of fetal Down’s syndrome based on measurement of nuchal translucency (NT) according to Nicolaides, optionally complemented by the determination of PAPP-A and free beta HCG has progressively supplanted other search strategies for fetal aneuploidies. It could be shown that this diagnostic strategy equally detects other numeric aneuploidies at a comparable rate. A positive test result is also predictive for the presence of a fetal malformation. In this field, several computer programs are available for clinical use. The objective of our study was to re-evaluate the first consecutive 1463 NT-risk calculations determined by Nicolaides’ method and to compare the risk calculation to the JOY software (NT-risk calculation module, JOY Patient Database) introduced in 2002. Material and methods At the Department of Obstetrics and Gynecology, Hannover Medical School, 1463 consecutive complete data sets comprising first trimester screening performed between May 2, 2000 and June 26, 2003 and corresponding fetal outcome were analysed using risk assessment based on the Nicolaides method (PIA Fetal Database NT-Module) and compared with the risk evaluation as determined by the JOY software (JOY Patient Database NT module). A risk exceeding 1:300 was considered to indicate the need for further invasive testing. In a first step, only cytogenetically detectable chromosomal aberrations were analysed. Then, a second evaluation including fetal malformations was performed. Results Among the 1463 cases, 1445 (98.77%) fetuses revealed to be cytogenetically healthy. Both softwares showed identical detection rates at the genetic and somatic level:13 cases of Down-Syndrome (0.89%), 2 cases of trisomy 18 (0.14%), one case of triploidy, one Turner-Syndrome, one Klinefelter-Syndrome (0.07% each) were detected. A positive test result was found in 15 cases ending in a spontaneous abortion, intrauterine death or peripartum death (1.03%) and in 22 cases of fetal malformation (1.50%). At the level of genetic detection the test positive rate dropped from 92 (PIA) to 71 (JOY) (-22.8%). At the level of combined adverse outcome the test positive rate was reduced from 100 (PIA) to 76 (JOY) (-22.0%), thus yielding in a marked improvement of the characteristic test performance parameters. Conclusion The novel, recently developed JOY software package allowed reliable evaluation of the risk for aneuploidy with increased specificity whereas sensitivity was unchanged. Our data suggest an improvement of the screening for aneuploidy when using this novel software: With an identical detection rate, the number of unnecessary invasive measures may be reduced.     

Successful management with C1-inhibitor concentrate of hereditary angioedema attacks during two successive pregnancies: a case report

Backgroud Hereditary angioedema (HAE) is a rare genetic disorder caused by a deficiency of the plasma protein C1 inhibitor (C1-INH). HAE is characterised by the onset of angioedema, which may develop in one or several organs, and may last from a few hours to several days. Oedema of the upper airway can be life-threatening. As a result of hormonal changes, some women experience more frequent angioedema attacks during pregnancy. During pregnancy, antifibrinolytic agents should only be used with caution, and attenuated androgens are contraindicated; therefore, replacement therapy with C1-INH concentrate represents one of few therapeutic options, but it is not widely documented. Case study We report the first case study of the successful management with regular infusions of C1-INH concentrate, of two successive pregnancies in a patient with HAE. During the second half of the first pregnancy, C1-INH was administered on demand at home. For the second pregnancy, on demand treatment was intensified to prophylactic therapy, with once or twice weekly infusions from the middle of the second trimester in order to efficiently control the frequent attacks. Conclusions This report illustrates that HAE can be successfully managed during pregnancy with C1-INH infusions at home. Since the number of crises may vary between pregnancies, the treatment regimen must be adapted to the patient’s need.     

Ogilvie’s syndrome: a case report

Objective Ogilvies syndrome (OS) is a rare condition in obstetrics but occurs most commonly after caesarean section. Mortality rates from OS can be as high as 36–50% when bowel perforation or ischemia develops which highlights the early recognition of this condition. Early diagnosis is therefore essential to prevent serious morbidity and mortality. Conclusion We, therefore report a case of OS after caesarean section in which early detection by senior clinicians resulted in successful management of the condition and an excellent outcome.     

A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy

Objective Case report of a rare combination of a trisomy 18 and 21 in a dizygotic twin pregnancy in a woman with a history of recurrent miscarriage, a neonatal death, no living offspring and Graves disease. Methods Case report and literature search. Results Only one other report in the literature of a combined trisomy 18 and 21 twin pregnancy was found. Conclusion The combination of a trisomy 18 and 21 in a dizygotic twin pregnancy is very rare. Despite the high frequency and clinical importance of aneuploidy, very little is known about the factors that may modulate meiotic non-disjunction.     

Prenatal diagnosis of a large fetal cervical teratoma by three-dimensional ultrasonography: a case report

Context The cervical teratomas are rare, benign tumors, they are formed by the three embryonic layers, and they represent only 6% of teratomas. The prognosis depends mainly on the size and location of the lesion, on the tumor growth rate, and on the level of tracheal compression. Prenatal diagnosis is usually reached with the aid of a two-dimensional ultrasonography (2DUS) after the 15th week of gestation, which shows a large heterogeneous mass in the cervical region, plus a polyhydramnios, on the Doppler mode which also shows the vascularization of the tumor. Case report We report a case of cervical teratoma diagnosed on the 31st week of gestation with the aid of a 2DUS and color Doppler mode. We focus on the main findings obtained with the three-dimensional ultrasonography in surface mode, and we highlight the importance of this methodology for the indirect evaluation of the neonatal prognosis.     

Screening for syphilis in pregnancy: which is the proper method?

Background Consequences of syphilis in mother, pregnancy, fetus and child are considerable, but preventable. Serological screening must be offered at the first prenatal visit. Presently, the diagnosis of syphilis is dependent mainly on serological tests. The most widely used screening tests for syphilis are the VDRL and the rapid plasma reagin (RPR) and for confirmation the fluorescent treponemal antibody (FTA) and the treponema pallidum hemagglutination (TPHA) tests. Method The four alternative nodes for diagnosis of can be a) VDRL + FTA, b) VDRL + TPHA, c) RPR + FTA and d) RPR + TPHA. Here the author reports an evaluation of cost utility of those tests in obstetrical practice. According to this study, it can be shown that the cost per accurate diagnosis for VDRL + TPHA is the least expensive choice and for RPR + FTA is the most expensive choice. Conclusion Therefore, this alternative is the best method for serological diagnosis of syphilis, based on medical laboratory economics principles.     

The significance of intracardiac Doppler sonography in terms of fetal growth retardation

Introduction

The proper function of the fetal heart is indispensable for the fetal development and the normal fetal growth. For prenatal medicine, Doppler sonography offers the possibility of a non-invasive method to examine the fetal cardiovascular function under normal and pathological circumstances. The role of the Doppler sonography is to identify those fetuses who have a high risk factor for developing a pre- or intrapartual asphyxia and therefore have to be delivered promptly. This study aimed at evaluating the clinical value of the intracardiac Doppler sonography (IDS) and at scrutinizing its usefulness during the supervision of the pregnancy of intrauterine growth restricted (IUGR) fetuses.

Materials and methods

In a prospective research at the Medical School of Hanover, fetal IDS was applied to 174 pregnant women between the 21 and 37 weeks of gestation (WG). The e-wave and the a-wave, the E/A ratio, and the TVI (time velocity integral) were measured at the atrioventricular (AV) valves. The PV (peak velocity) as well as the TVI were determined at both the aortic and the pulmonary valve. Normal range curves were compiled for all measured parameters.

Results

Alongside a control group with untroubled gravidity, which consisted of 153 patients, IUGR fetuses, who formed a collective of 21 patients, were Doppler sonographically examined.While the gestational age advanced, an increase of both the e-wave and the a-wave above the AV-valves could be ascertained, which lead to an E/A ratio <1. Above the semilunar valves there was indicated a slight steady increase of the TPV, the PV as well as the TVI. Normal range curves, which largely correspond to those described in the literature, were compiled for the collective of the pregnancies without pathological findings (n = 153). In comparison to the standard collective, there were no significant differences from the collective of the growth restricted fetuses (n = 21).

Conclusion

A temporal informational advantage of pathological intracardiac Doppler values for high risk pregnancies (IUGR) could not be retraced in the examined collective.Doppler sonography traces acute and chronic deficits, which are indicated by hemodynamic changes of the fetus’s blood supply. The clinical importance of IDS as regards dystrophic fetuses has to be ascertained in continuative studies: In the stage of compensatory placental insufficiency (IUGR, arterial Doppler without ARED-flow, venous Doppler without pathological findings) the IDS cannot provide an informational advantage. Contrastingly, the diagnostic potential of the IDS as a screening method of fetal cardiac insufficiency during decompensative placental insufficiency (IUGR, arterial Doppler with ARED-flow, venous Doppler normal or pathological) remains indistinct and should therefore be prospectively evaluated within this high risk group and contrastingly compared to the significance of the venous Doppler sonography (informational advantage?).

     

Pregnancy following oocyte donation in a woman with Noonan’s syndrome and a balanced Robertsonian translocation a case report

Successful pregnancy in Noonan’s syndrome and balanced Robertsonian translocation women is extremely rare. This is because pregnancies in these women usually end in spontaneous miscarriage or termination before 24 weeks gestation due to severe congenital anomaly. In this article, we report the case of a 41-years-old woman with Noonan’s syndrome and balanced Robertsonian translocation. She was delivered by an elective caesarean section at 38 weeks of a live male infant following a second attempt of in vitro fertilisation (IVF) and embryo transfer from donor oocytes. The use of donor eggs and IVF in these women means more of them will achieve successful term pregnancy as in this case. It is therefore important that Obstetricians understand this rare condition and optimise care. This case highlights some of the medical problems encountered by Obstetricians in managing patients in this high risk group.