Prenatal diagnosis of multiple large subchorionic placental cysts with intracystic hemorraghe.

Subchorionic placental cysts occur in up to 5% of pregnancies. Large and numerous placental cysts increase the risk for intrauterine growth restriction. We describe a case with large multiple subchorionic placental cysts complicated by intracystic hemorraghe and fetal growth restriction.

Outcome of 12 antenatally diagnosed fetal arachnoid cysts: case series and review of the literature.

OBJECTIVES: To investigate the natural history, associated abnormalities and outcome of 12 fetuses with arachnoid cyst diagnosed antenatally by ultrasound and magnetic resonance imaging and to compare the outcome with cases in the literature. METHODS: A retrospective study of all cases of antenatally detected fetal arachnoid cysts was performed in patients referred to a tertiary unit between 2007 and 2013. Associated abnormalities, pregnancy outcome and postnatal follow-up were analyzed. All papers about prenatally diagnosed arachnoid cysts, of the last 30 years, were evaluated (search terms in Pubmed: "prenatal diagnosis", "Arachnoid Cysts"). RESULTS: Fetal arachnoid cysts were diagnosed in 12 fetuses, 9 were females. The mean gestational age of diagnosis was 28 1/7 (range 19 1/7-34 2/7 weeks). A total of 9 cases were supratentorial, 3 were located in the posterior fossa. In 10 cases a fetal MRI was performed which confirmed brain compression in 4 out of 5 supratentorial arachnoid cyst. MRI did not reveal other malformations nor signs of nodular heterotopia. Only one fetus presented with additional major anomalies (bilateral ventricumomegaly of >20 mm and rhombencephalosynapsis) leading to a termination of pregnancy. Two neonates underwent endoscopic fenestration of the arachnoid cyst in the first week of life with no additional intervention in childhood. All but one (10/11) had a favorable postnatal outcome. This child suffered from visual impairment at autism was diagnosed at the age of 5. One child had a surgical correction of strabismus later in childhood. In one child the infratentorial arachnoid cyst regressed spontaneously on ultrasound and MRI in the postnatal period. CONCLUSIONS: The majority of arachnoid cysts in this series are of benign origin and remain stable. Based on the current series and the review of the literature, in the absence of other associated anomalies and when the karyotype is normal, the postnatal overall and neurological outcome is favorable. Large suprasellar arachnoid cysts however, may cause visual impairment and endocrinological disturbances. Rarely associated cerebral or cerebellar malformations are present. Modern postnatal management of suprasellar arachnoid cyst consists of endoscopic cystoventriculostomy.

Obesity and pregnancy, an epidemiological and intervention study from a psychosocial perspective.

BACKGROUND: Maternal obesity is a growing public health concern in Belgium as well as in other European countries and is now becoming the most common risk factor associated with pregnancy complications with impact on the health of the women and her offspring. At this moment, there is no specific management strategy for obese pregnant women and mothers, focusing on physical health and psychological well-being. OBJECTIVES: We aimed (1) to study the influence of socio-demographic and obstetrical correlates on pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) in different regions of Flanders, Belgium, (2) to review the literature on the onset and progression of labour in normal weight and obese pregnant women, (3) to compare levels and evolution of anxiety and depressed mood during pregnancy between obese women and normal-weight women, (4) to examine whether a prenatal lifestyle intervention programme, based on principles of motivational interviewing, in obese pregnant women reduces GWG and lowers levels of anxiety and depressed mood during pregnancy, (5) to examine associations between inter-pregnancy weight change from the first to the second pregnancy and the risk for adverse perinatal outcomes during the second pregnancy and finally (6) to study predictors of postpartum weight retention (PPWR) in obese mothers at six months after delivery in order to provide clues for the design of interventions aimed at preventing weight retention related to childbearing. METHODS: We performed an epidemiological study, an intervention study during pregnancy with postpartum follow up and a literature review. RESULTS: One in three Flemish women start pregnancy being overweight or obese and this prevalence has slowly been rising since 2009 in the Flanders. We identified women at risk for a high pre-pregnancy BMI and excessive GWG, both being important predictors for increased pregnancy and birth related complications. In a literature review, we showed that the combination of a higher incidence of post-term deliveries and increased inadequate contraction pattern during the first stage of labour in obese women suggests an influence of obesity on myometrial activity. Given the low compliance for adequate GWG in obese women in the general Flemish population and their increased psycho-social vulnerability compar-ed to the normal weight pregnant women, counselling obese pregnant women can lead to a reduced GWG and increased psychological comfort. Stabilizing inter-pregnancy maternal weight for all women is an important target for reducing adverse perinatal outcomes in the subsequent pregnancy. Psychological discomfort during pregnancy does impact on PPWR in obese mothers six months after delivery. DISCUSSION AND CONCLUSION: Focusing on weight management in obese women before, during and after a pregnancy has advantages for both the mother and her infant. Theoretical and practice based training modules should be developed and focus on: (1) awareness of techniques for identifying the clearly identified risk groups with a high pre-pregnancy BMI and excessive GWG, (2) the increased perinatal risks, (3) an adapted perinatal management and (4) counselling techniques for an adequate weight management and psychological wellbeing in obese pregnant women. To achieve better care for the future, we must focus on tackling maternal obesity. This means that obese women should be reached before they get pregnant for the first time. Targeting primary and community based care, promotion and education are challenging, but the psychosocial context should be acknowledged.

Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings.

Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks. Autopsy findings are suggestive for Fraser syndrome (cryptophthalmos-syndactyly syndrome; OMIM 219000). The diagnosis was confirmed by mutation analysis of FRAS1.

Effects of lifestyle intervention in obese pregnant women on gestational weight gain and mental health: a randomized controlled trial.

OBJECTIVE: Lifestyle intervention could help obese pregnant women to limit their weight gain during pregnancy and improve their psychological comfort, but has not yet been evaluated in randomized controlled trials. We evaluated whether a targeted antenatal lifestyle intervention programme for obese pregnant women influences gestational weight gain (GWG) and levels of anxiety or depressed mood. DESIGN AND SUBJECTS: This study used a longitudinal interventional design. Of the 235 eligible obese pregnant women, 205 (mean age (years): 29±4.5; body mass index (BMI, kg m(-)(2)): 34.7±4.6) were randomized to a control group, a brochure group receiving written information on healthy lifestyle and an experimental group receiving an additional four antenatal lifestyle intervention sessions by a midwife trained in motivational lifestyle intervention. Anxiety (State and Trait Anxiety Inventory) and feelings of depression (Edinburgh Depression Scale) were measured during the first, second and third trimesters of pregnancy. Socio-demographical, behavioural, psychological and medical variables were used for controlling and correcting outcome variables. RESULTS: We found a significant reduction of GWG in the brochure (9.5 kg) and lifestyle intervention (10.6 kg) group compared with normal care group (13.5 kg) (P=0.007). Furthermore, levels of anxiety significantly decreased in the lifestyle intervention group and increased in the normal care group during pregnancy (P=0.02); no differences were demonstrated in the brochure group. Pre-pregnancy BMI was positively related to levels of anxiety. Obese pregnant women who stopped smoking recently showed a significant higher GWG (ß=3.04; P=0.01); those with concurrent gestational diabetes mellitus (GDM) (ß=3.54; P=0.03) and those who consumed alcohol on a regular base (ß=3.69; P=0.04) showed significant higher levels of state anxiety. No differences in depressed mood or obstetrical/neonatal outcomes were observed between the three groups. CONCLUSIONS: A targeted lifestyle intervention programme based on the principles of motivational interviewing reduces GWG and levels of anxiety in obese pregnant women.

Difficult prenatal diagnosis: fetal coarctation.

The prenatal diagnosis of fetal coarctation is still challenging. It is mainly suspected by ventricular disproportion (smaller left ventricle than right ventricle). The sensitivity of ventricular discrepancy is however moderate for the diagnosis of coarctation and there is a high false positive rate. Prenatal diagnosis of coarctation is important because the delivery can be arranged in a centre with a pediatric cardiac intensive careand this reduces postnatal complications and longterm morbidity. For many years the prenatal diagnosis of coarctation has been investigated to improve specificity and sensitivity by several of measurements. This article reviews all relevant articles from 2000 until 2011 searching pubmed and the reference list of interesting articles. An overview of specific measurements and techniques that can improve the diagnosis of coarctation has been made, such as the isthmus diameter, ductal diameter, isthmus/ductal ratio, z-scores derived from measurements of the distal aortic isthmus and arterial duct, the presence of a shelf andisthmal flow disturbance. Also 3-dimensional (3D) and 4-dimensional (4D) imaging with or without STIC has been -suggested to be used as newer techniques to improve diagnosis of coarctation in fetal life. Although more methods regarding prenatal diagnosis of coarctationare being investigated, the ultrasound specialist remains challenged to correctly diagnose this cardiac anomaly in prenatal life.

Socio-demographic and obstetrical correlates of pre-pregnancy body mass index and gestational weight gain.

Both pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) are important determinants of a healthy pregnancy outcome and may show important variation. To study the influence of socio-demographic and obstetrical correlates on pre-pregnancy BMI and GWG, data of 54 022 singleton term pregnancies were analysed using adjusted regression models. In 2009, in the Northern region of Belgium, one-third of women were overweight (21.6%) or obese (10.1%) and GWG as recommended by the Institute of Medicine occurred in only 28% of obese women. A high pre-pregnancy BMI was significantly associated with low maternal education, high maternal age and multiparity, belonging to ethnic minority groups and a lower professional state. Compared to adequate GWG, excessive GWG was more common in younger (<20 years) women, with higher pre-pregnancy BMI and pregnancy-induced hypertension. Moreover, younger (20-24 years), single women, belonging to ethnic minority groups showed higher odds for excessive as well as insufficient GWG, while those with high/highest educational level had lower odds for excessive (odds ratio [OR] 0.76; confidence interval [CI] 0.72-0.80) and insufficient (OR 0.93; CI 0.89-0.98) GWG. The results of this study highlight the scale of the problem of maternal obesity and excessive GWG for this region and offer opportunities to target educational campaigns and intervention programmes in the clinical setting.

Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report.

Hydrometrocolpos, occurring in approximately 1/6000 newborn girls, can be caused by a stenotic urogenital sinus, a severe cloacal malformation, but also by other conditions such as an imperforate hymen, a midline vaginal septum and vaginal atresia. The prenatal differential diagnosis of this wide spectrum of conditions is not easy and requires a multidisciplinary approach with follow-up scans and MRI to access the severity of the condition. A non-consanguineous couple was referred in the first pregnancy at 30 weeks. The father, 30 years of age, of Kaukasian origin, and the mother of Asian origin, 26 years of age. Ultrasound at 30 weeks revealed ambiguous genitalia (with suspicion of clitoral hypertrophy), a septated structure located behind the bladder compatible with hydrometrocolpos with a uterine malformation (uterus didelphys), a single umbilical artery, mild ascites and growth on the tenth centile. The differential diagnosis included a vaginal atresia, a urogenital sinus and a more severe cloacal malformation. After serial scans, MRI and counselling by an experienced surgeon the preferential diagnosis of a cloacal malformation was made and a late pregnancy termination was performed. Pathological examination revealed: low vaginal atresia with uterus didelphys, anal atresia with rectovaginal fistula and a normal urinary tractus. The differential diagnosis between hydrometrocolpos due to vaginal atresia or due to a more severe cloacal malformation is not straightforward. Care should be taken in decision making and counselling patients with these complex prenatal malformations.

Preconception care.

A good pregnancy outcome is partly determined by a women's preconceptional health and healthy lifestyle. The access to prenatal care is good nowadays but the incidence of congenital malformations, preterm births, low birth weight and maternal mortality has not significantly declined over the years. Although most women of reproductive age have a gynecological examination every two years in Belgium, they are not often counseled before starting a pregnancy. The American College of Obstetricians and Gynecologists (ACOG) states that optimizing a woman's health before and between pregnancies must be an ongoing process. The most vulnerable period for fetal defects is between 4 and 10 weeks of gestation, the period of embryogenesis, meaning that counseling for a healthy life style and reducing high-risk conditions should start preferably before conception.

Skeletal dysplasias: 38 prenatal cases.

OBJECTIVE: To assess the prenatal diagnosis of skeletal dysplasias in a single center over a ten-years period. METHODS: All antenatal detected skeletal dysplasias during the period January 1st 1996 until December 31 2005 (10 years) were retrieved from the genetic database. This database includes all skeletal dysplasias where invasive prenatal diagnosis (chorionic villus sampling/amniocentesis) was performed. The final diagnosis was sought on the basis of fetopathological examination, radiographic studies and if possible molecular testing. RESULTS: A total of 46 antenatal skeletal dysplasias were diagnosed during this period. Follow-up was only available in 38 cases. The other 8 cases involved prenatally presumed lethal skeletal dysplasias that were interrupted in the referral hospital with no further information sent to us. The mean gestational age at diagnosis was 23 weeks (range 12-33 weeks). A diagnosis < or = 24 weeks was made in 25 cases (65.8%). Eleven skeletal dysplasias were diagnosed > 30 weeks (29%) and these included all achondroplasias (n = 6), hypophosphatasia (n = 1), Jeune syndrome (n = 1), osteogenesis imperfecta type II (n = l), type I (n = 1) and type III (n = 1). In 27 cases a lethal skeletal dysplasia was present (71%) and these were all correctly predicted. Of the lethal skeletal dysplasias 5 cases were diagnosed only after 24 weeks of pregnancy (19%) and 3 were only referred after 30 weeks (11.5%). A final diagnosis was obtained in 36 cases by fetopathological examination and radiographic studies and molecular testing as deemed necessary. Specific diagnoses included: achondroplasia (n = 6), achondrogenesis (n = 2), osteogenesis imperfecta type II (n = 9), osteogenesis imperfecta type I (n = 1), osteogenesis imperfecta type III (n = 1), thanatophoric dysplasia (n = 7), hypophosphatasia (n = 1), Majewski syndrome (n = 11), Mohr-Majewski syndrome (n = 11), Jeune syndrome (n = 2), Ellis-van Creveld syndrome (n = 2), Roberts syndrome (n = 1), campomelic dysplasia (n = 2). In two cases postnatal investigation revealed no certain diagnosis and these included one patient with symmetrical tetraphocomelia with aspects of Roberts and Femur-fibula-Ulna syndrome and one patient at 15 weeks with a lethal skeletal dysplasia with rhizomelic limb shortening, a narrow thorax, platyspondyly, normocephaly, a normal pelvis, and a posterior cleft palate. A correct antenatal diagnosis was made in 25 cases (65.8%) including osteogenesis imperfecta type II (n = 9), thanatophoric dysplasia (n = 7), achondroplasia (n = 6), achondrogenesis (n = 2) and Roberts syndrome (n = 1). CONCLUSION: The antenatal prediction of lethality in this series of prenatal diagnosed skeletal dysplasias was correct. A correct antenatal diagnosis of the type of skeletal dysplasia was difficult, with 25 of 38 cases correctly diagnosed.

Prenatal diagnosis of trisomy 21: registration results from a single genetic center.

This is a retrospective review of all collected amniotic fluid samples, chorionic villus samples and other fluid-aspirations (hygroma colli fluid/urine from megacystis) over an 11-year period (1996-2006) in a single Genetic Center (University Hospital Gasthuisberg, Leuven), looking at the prenatal diagnosis of trisomy 21. In this study a total of 404 diagnoses of trisomy 21 were made on 29696 samples (1.4%). The prenatal diagnosis of trisomy 21 increased over the years with 0.88% (21/2363) in 1996 and 1.99% (50/2512)in 2006. Also the type of invasive testing changed over the years with an increase of the proportion of trisomy 21- diagnoses by chorionic villussampling from 2001. Looking at the registry for perinatal activities in Flanders for the year 2006 the live birth incidence for trisomy 21 was 1/1782 and this is lower than the often reported incidence oftrisomy 21 at birth of 1/800: it is likely that the use of more sensitive screening methods for the prenatal detection of trisomy 21 and the election of termination for most affected pregnancies affects the birth incidence oftrisomy 21.

Fetal nuchal translucency thickness.

In the early 1990s Nicolaides introduced screening for trisomy 21 by fetal nuchal translucency thickness measurement with ultrasound between 11-13(+6) weeks. Already in 1866 L. Down noted that common features of patients with trisomy 21 are a skin being too large for the body and a flat face with a small nose. While detection rates for trisomy 21, given an invasive testing rate of 5%, were only 30% for screening by maternal age and 65% for screening by maternal serum triple test, the detection rate for screening by nuchal translucency combined with maternal age was 75% and this could be increased to 90% in combination with maternal serum screening (serum B-human chorionic gonadotropin and pregnancy-associated plasma protein-A) at 11-13(+6) weeks. The additional soft markers in the first trimester are the fetal nasal bone, the Doppler velocity waveform in the ductus venosus and tricuspid regurgitation and these markers can be used to further increase the detection rate of trisomy 21. In addition increased nuchal translucency thickness can also identify other chromosomal defects (mainly trisomy 13 and 18 and monosomy X) and major congenital malformations (mainly cardiac defects) and genetic syndromes.