P. Martinelli

Coeliac disease and unfavourable outcome of pregnancy

BACKGROUND Up to 50% of women with untreated coeliac disease experience miscarriage or an unfavourable outcome of pregnancy. In most cases, after 6–12 months of a gluten free diet, no excess of unfavourable outcome of pregnancy is observed. The prevalence of undiagnosed coeliac disease among pregnant women is not known. AIM To determine the prevalence of untreated coeliac disease among women attending the obstetrics-gynaecological department. METHODS Endomysial antibodies, which are specific and sensitive for coeliac disease, were evaluated in all women attending the obstetrics-gynaecology department of a large city hospital over a 90 day period. RESULTS Of 845 pregnant women screened, 12 were identified as having coeliac disease. Three had previously been diagnosed but were not following a gluten free diet. The remaining nine underwent a small intestinal biopsy, which confirmed the diagnosis. The outcome of pregnancy was unfavourable in seven of these 12 women. Six healthy babies were born with no problems after the women had been on a gluten free diet for one year. CONCLUSIONS Overall, 1 in 70 women was affected by coeliac disease, either not diagnosed (nine cases) or not treated (three cases). Their history of miscarriages, anaemia, low birth weight babies, and unfavourable outcome of pregnancy suggests that testing for coeliac disease should be included in the battery of tests prescribed for pregnant women. Coeliac disease is considerably more common than most of the diseases for which pregnant women are routinely screened. Unfavourable events associated with coeliac disease may be prevented by a gluten free diet.

Objective diagnosis of micrognathia in the fetus: the jaw index

OBJECTIVEnTo provide an objective and accurate tool to diagnose micrognathia in the fetus.nnnMETHODSnThe anteroposterior and laterolateral diameter of the mandible were measured in 262 normal fetuses between 12 and 37 weeks gestation and plotted against gestational age and biparietal diameter (BPD). The jaw index (anteroposterior mandibular diameter/BPD x 100) was then tested against the usual subjective method for diagnosing micrognathia, consisting of the evaluation of the facial profile, in a population of 198 malformed fetuses, 11 of which had micrognathia at necropsy or birth.nnnRESULTSnThe mandibular growth was linearly correlated with gestational age and BPD. Using a cutoff level of less than 23, the jaw index had a 100% sensitivity and 98.1% specificity in diagnosing micrognathia, in comparison with 72.7% and 99.2% shown by the subjective evaluation of the fetal profile. With a cutoff of 21, it yielded a positive predictive value of 100%.nnnCONCLUSIONnWe demonstrated the linear relationship between mandibular growth and gestational age or BPD. In addition, we validated the jaw index as an objective tool for diagnosis of micrognathia in the fetus.

Chorioamnionitis and prematurity: a critical review

Chorioamnionitis is the inflammatory response to an acute inflammation of the membranes and chorion of the placenta. We provide a critical review of the relationship between chorioamnionitis and the risk of prematurity and adverse maternal-fetal outcome. Chorioamnionitis results as a major risk factor for preterm birth and its incidence is strictly related to gestational age. It is associated with a significant maternal, perinatal and long-term adverse outcomes. The principal neonatal complications are neonatal sepsis, pneumonia, bronchopulmonary dysplasia, perinatal death, cerebral palsy and intraventricular hemorrhage. The role in neonatal outcome is still controversial and more conclusive studies could clarify the relationship between chorioamnionitis and adverse neonatal outcome. Maternal complications include abnormal progression of labour, caesarean section, postpartum hemorrhage, abnormal response after use of oxytocin and placenta abruption. Prompt administration of antibiotics and steroids could improve neonatal outcomes.

Reproductive experience of HIV-infected women living in Europe

BACKGROUNDnThe aim of this study was to describe the experience of pregnant and non-pregnant HIV-infected women regarding fertility and childbearing, with a view to inform policies and practices to improve reproductive outcome.nnnMETHODSnA cross-sectional survey collected information on socio-demographic and basic reproductive characteristics of HIV-infected women in Europe. A total of 403 women participated; 121 were pregnant.nnnRESULTSnThe median age was 29 years and 84% (228) of women were born in Europe. Overall 68% (275 of 403) had been pregnant at some time. At the time of the survey, 59% (n = 160) of women had no HIV symptoms; severe symptoms were more frequent among non-pregnant than pregnant respondents (36% (65 of 181) versus 5% (4 of 88)). Of the women, 80% reported being in a long-standing relationship; 39% (74 of 190) reported that they became infected by their current partner and, overall, heterosexual infection was reported as the mode of acquisition in 55% (190 of 344). Maternal well-being, no previous live birth and having an uninfected partner were strongly associated with the likelihood of being pregnant. To assess the problems relating to fertility, pregnant and non-pregnant women were considered separately. Overall, 46% of pregnant women reported not using condoms to protect against infection during pregnancy. Of the 60 pregnant women who planned their pregnancies, 10 reported the need for assistance in conceiving: five monitored their ovulation period and five became pregnant through in vitro fertilization. Of 34 non-pregnant women currently trying for a baby, 15 (44%) had done so for more than 18 months. Overall 25 (27%) of 94 women who planned to become pregnant needed reproductive care.nnnCONCLUSIONSnOur results suggest that these days knowledge of HIV infection neither influences the desire for children nor the decisions regarding pregnancy in HIV-infected women living in Europe.

The role of tissue harmonic imaging in fetal echocardiography

To define the role of tissue harmonic imaging (THI) in fetal echocardiography.

Prenatal ultrasonographic findings of a cardiac myxoma

BACKGROUND Cardiac myxomas have been reported in the neonate but never in the fetus. We present the prenatal diagnosis of such a tumor. CASE The patient had been referred for fetal echocardiography for a right atrial mass. At 23 weeks gestation, the tumor was initially located in the left atrium. Then it crossed the foramen ovale and began moving between the right atrium and ventricle. It appeared as a soft, moderately echogenic mass with a long peduncle attached to the right atrial wall. It was followed until delivery and removed at 20 days of life. CONCLUSION This case shows that myxomas can also arise in the fetus. Such a diagnosis should be taken into consideration when a soft, echogenic, pedunculated mass is seen within the fetal heart.

Prenatal ultrasound diagnosis of Poland syndrome

BACKGROUND: Poland syndrome is a congenital nongenetic anomaly characterized by unilateral chest wall hypoplasia, ipsilateral hand abnormalities, and hemivertebrae. It has not ben described so far in the fetus. CASE: The patient was referred for suspected left-arm hypomelia at 22 weeks of gestation. On ultrasonography, we confirmed the presence of severe left-sided hypomelia and detected an asymmetry of the rib cage and 3 thoracic hemivertebrae. The absence of heart defects led us to make the putative diagnosis of Poland syndrome. After termination of pregnancy, the diagnosis was confirmed by the pathologist. CONCLUSION: The possibility of diagnosing Poland syndrome in utero is important for proper management and counseling. If the syndrome is suspected in a fetus, counselors may refer to specific postnatal data to provide the couple with survival rates, treatment options, and results and morbidity figures. If the pregnancy is terminated, a detailed necropsy is warranted to confirm the diagnosis because familial transmission has been reported.

Preeclampsia in women with chronic kidney disease.

Objective: Women with chronic kidney disease have an increased risk of developing preeclampsia and its severe complications. Currently, there are no assessments available in order to quantify such risk. The aim of the study is to establish the incidence of superimposed preeclampsia in women with chronic kidney disease according to Serum creatinine (SCr) level. Methods: Pregnant women with chronic kidney disease were retrospectively identified from January 2000 to July 2010. We defined two groups according to SCr: Group 1: SCr ≤ 125 µmol/l; Group 2: SCr > 125 µmol/l. Incidence of preeclampsia, early preeclampsia (delivery <34 weeks), gestational age (GA) at diagnosis and delivery outcome were assessed. Results: Ninety-three nephropatic women were considered for the analysis. Group 2 (nu2009=u200914) compared with Group 1 (nu2009=u200979) had an increased incidence of preeclampsia (78.6% vs. 25.3%; pu2009<u20090.0001), an increased rate of pregnancy complications as early preeclampsia (82% vs. 38%; pu2009<u20090.03), a lower GA at diagnosis (29u2009±u20092 vs. 33u2009±u20091 weeks; pu2009<u20090.04) and a lower GA at delivery (30u2009±u20092 weeks vs. 34u2009±u20091; pu2009<u20090.04). Conclusion: Women with chronic kidney disease and an increased creatinine threshold have a high risk of developing preeclampsia and delivering preterm.

Prenatal diagnosis of cystic fibrosis: an experience of 181 cases

Abstract Background: The demand for prenatal diagnosis (PD) of cystic fibrosis (CF) is increasing. Methods: We performed pre-test multidisciplinary counselling for 192 couples at CF reproductive risk. In 11/192 (5.7%) cases PD was not performed mainly because counselling revealed a reproductive risk for atypical (mild) CF, while 181 PDs were performed in couples revealed at high risk for CF mainly because they already had a CF child (148/181, 81.8%) or had been identified through cascade screening (28/181, 15.5%). Results: In 167/181 (92.3%) cases (including two dichorionic twin pregnancies), PD was performed on chorionic villi, and in 14 on amniocyte DNA. Only 1/181 PD was unsuccessful. In all other cases, single tandem repeat analysis excluded maternal contamination, and PD was made within 7 days of sampling. In total 116/180 (64.4%) PDs were made with dot-blot analysis; 40 (22.2%) required gene sequencing; in 4/180 cases we tested the gene for large rearrangements; in 23/180 (12.8%) cases linkage analysis was necessary because parental mutation(s) were unknown. Forty-two out of 180 (23.3%) PDs revealed an affected foetus. All couples but one interrupted pregnancy. The first twin PD revealed the absence (1 foetus) and the presence of one mutation (the other foetus); the second twin PD revealed one parental mutation (1 foetus) and both parental mutations (the other foetus); the couple planned selective interruption. Conclusions: PD for CF should be performed in reference laboratories equipped for gene scanning and linkage analysis, with a multidisciplinary staff able to offer counselling to couples during all phases of PD.

Anesthetic management of a parturient with spinal muscular atrophy type II

In the past, pregnancy was contraindicated in patients with spinal muscular atrophy. Recently, more cases are occurring because of improvement in survival and functional status. The goals for anesthetic management of these patients include satisfactory anesthesia during surgery and excellent postoperative analgesia with minimal compromise of respiratory function. Spinal anesthesia may be considered contraindicated due to spinal deformities, but successful spinal anesthesia was performed in a 37 year old parturient following magnetic resonance imaging of the spine.