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Objectives: To describe and assess the sonographic findings, evolution and clinical implications of thrombosis of the fetal dural sinuses., Methods: We compiled a multicenter report of the outcomes of five cases with a prenatal diagnosis of thrombosis of the dural sinuses, and one case in which thrombosis of the dural sinus was diagnosed at necroscopy after termination of pregnancy. Prognostic factors are discussed, and suggestions made for prenatal and postnatal management., Results: The mean (range) gestational age at diagnosis of thrombosis of the dural sinuses in the five cases in which it was made prenatally was 25.2 (22-31) weeks. In these five cases, diagnosis was made by sonography and confirmed by magnetic resonance imaging (MRI), which showed a blood clot in the region of the torcular herophili. Three of the six cases delivered vaginally with favorable sonographic findings, and normal clinical neurological development. Two pregnancies were terminated at the request of the parents. In one of these cases the prognosis was poor, with signs of fetal decompensation or cardiac failure; the pregnancy was terminated and necropsy revealed thrombosis of the occipital dural sinuses associated with a hemangioma. One infant, in whom the thrombosis developed in conjunction with a dural sinus malformation, died at 4 months of age., Conclusions: Thrombosis of the cerebral venous circulation can occur antenatally and is detectable by fetal real-time and color Doppler ultrasound examination. A review of the literature supports targeted evaluation of the fetus by serial ultrasound imaging and MRI to help guide the diagnosis, and to improve the counseling and management of such cases. Partial or total regression, isolated abnormality, absence of fetal decompensation or signs of cardiac failure and favorable clinical evolution are suggestive of favorable prognosis. In such cases, non-interventional neonatal management is recommended., ((c) 2008 ISUOG. Published by John Wiley & Sons, Ltd.)

Objectives: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a usually lethal disease during the first year of life. There is no specific ultrasound prenatal diagnosis and no identified genetic locus. The value of amniotic fluid digestive enzyme assay and fetal urine biochemistry in the prediction of MMIHS was analysed., Methods: Retrospective study of 14 MMIHS cases. Amniotic fluid digestive enzymes and fetal urine biochemistry were compared in MMIHS and megabladder (63 and 264 cases respectively)., Results: Abnormal amniotic fluid digestive enzyme profile (vomiting of bile or digestive secretion leakage) was observed in 8/10 MMIHS cases. These profiles were observed in 7/63 controls; 80% sensitivity (95%CI = 55%-100%); 89% specificity (95%CI = 81%-96%). Fetal urinalysis was normal in 12/12 MMIHS cases except high calcium (>0.6 mmol/l). This profile was observed in 33/264 megabladder control cases; 100% sensitivity; 98.7% specificity (95%CI = 83.5%-91.5%)., Conclusion: For the first time, we propose a prenatal diagnosis of MMIHS based on amniotic fluid digestive enzyme assay and on fetal urinalysis., (Copyright 2005 John Wiley & Sons, Ltd.)

Objective: To evaluate MR contribution to prenatal diagnosis and prognosis of corpus callosum agenesis suspected by ultrasound and to ascertain how and when this examination should be included part in prenatal management of such malformation., Patients and Methods: During a six-year period from January 1st 1994 and December 31st 2000, fifteen patients (and fifteen fetuses) were referred to our fetal medicine unit with suspicion of corpus callosum agenesis on prenatal ultrasound. Cerebral MRI was performed in all cases to confirm prenatal diagnosis. In our study, prenatal MRI examinations were retrospectively studied and compared with neuropathological examinations (n=8) or postnatal imaging (n=6)., Results: Corpus callosum agenesis were either complete (n=13) or partial (n=1). All were visible on prenatal MRI but only six on prenatal ultrasound. In one case, ultrasound suspicion of corpus callosum agenesis was ruled-out (false positive on prenatal ultrasound) by fetal cerebral MRI. In five cases corpus callosum agenesis was an isolated finding whereas in 12 cases associated malformations were encountered (cerebral n=7 or extra-cerebral n=5). MR depicted 7 of the 12 associated neurologic abnormalities., Conclusion: Prenatal MRI is a valuable complementary technique for either diagnosis of corpus callosum agenesis and depiction of associated neurologic abnormalities. Superiority of MR on prenatal sonography and its help in post-mortem examination of the brain (help in the choice of the pathologic technique and localisation of the samples) makes it essential even when pregnancy termination is considered.

Recent improvement in the screening for chromosomal defects, in particular the widespread use of ultrasonography and maternal biochemistry, is leading to a high number of fetal invasive tests (amniocentesis or chorion villus sampling). An increased level of anxiety in the pregnant women, which may sometimes continue until the postnatal period, is believed to be due to these prenatal diagnosis procedures. Maternal anxiety originates in the doubts related to fetal integrity and pregnancy outcome after information of a positive biochemical screening or visualisation of an ultrasound marker of chromosomal abnormality. Each specialist involved in prenatal care should take special attention to this, because of at least two reasons. First, anxiety may reduce maternal well being during pregnancy. Second, because it could have deleterious effects on parent to infant relationships. Without any intention of lowering the positive aspects of prenatal diagnosis, it appears essential to consider the negative effects anxiety may have on both parents. From our own experience and the conclusion of previous reported studies, we suggest some measures to reduce the level of maternal anxiety related to prenatal diagnosis: (i) improvement in the quality and transparency of information offered to pregnant women; (ii) training and involvement in psychological and emotional care for each member in the medical team; (iii) special and systematic psychological care for the "high risk" pregnant women regarding anxious disorders.

Objective: To identify the difficulties in relation to prenatal diagnosis of cleft lip and/or palate. To provide useful clue to the clinician in order to evaluate prognosis and for prenatal management of this malformation., Patients and Methods: Retrospective study of all cases managed in our fetal medicine unit between January 1991 and December 1999. During this study period 64 cases of fetal cleft lip and/or palate were retrospectively reviewed. From June 1995, all cases were prospectively recorded, giving us the opportunity to compare the performance of three ultrasound signs for associated secondary cleft palate., Results: The mean gestational age at diagnosis was 26 weeks. Associated ultrasound abnormalities were detected in 42% of cases. Chromosome analysis was performed in all fetuses with associated ultrasound findings and in 39% of fetuses with isolated facial clefts. All fetuses with isolated cleft were chromosomally normal, whereas 15 of the 26 with additional abnormalities had chromosomal defects. Prospective assessment of three ultrasound signs of associated secondary cleft palate was considered possible in 57% of facial clefts. Sensitivity of these signs was respectively 78% (interruption of the secondary palate midline linear echo in a sagittal view), 87% (abnormal oro-nasopharyngeal fluid flow with color Doppler imaging) and 31% for ancillary signs (amniotic fluid excess and non-visualized fetal stomach) for the prediction of associated cleft palate. Only the absence of the three signs to rule out secondary cleft palate., Conclusion: Prenatal diagnosis of cleft lip and/or palate must draw attention to associated sonographic malformations. When cleft lip and/or palate is isolated, amniocentesis is recommended apart from selected cases. Secondary palate involvement is difficult to ascertain during pregnancy.

ABSTRACT Objective In the first trimester of pregnancy, a biparietal diameter ( BPD) below the 5th percentile is a simple marker that enables the prenatal detection of half of all cases of open spina bifida. We hypothesized that relating the BPD measurement to the transverse abdominal diameter ( TAD) might be another simple and effective screening method. In this study we assessed the performance of using the BPD/ TAD ratio during the first trimester of pregnancy in screening for open spina bifida. Methods A total of 20 551 first-trimester ultrasound scans (11-13 weeks' gestation), performed between 2000 and 2013, were analyzed retrospectively; there were 26 cases of open spina bifida and 17 665 unaffected pregnancies with a crown-rump length of 45-84 mm and a record of both BPD and TAD measurements. Results The mean (± SD) BPD/ TAD ratio was 1.00 ± 0.06 for fetuses with spina bifida and 1.13 ± 0.06 for those without ( P < 0.0001). A BPD ≤ 5th percentile enabled the prenatal detection of 46.2% of spina bifida cases, while a BPD/ TAD ratio of ≤ 1.00 detected 69.2%. If we considered cases in which either BPD was ≤ 5th percentile or BPD/ TAD ratio was ≤ 1, we identified 76.9% of cases. In the latter case, the false-positive rate was 5.1%, while that for using a combination of both BPD ≤ 5th percentile and BPD/ TAD ratio ≤ 1 was 0.6%, with a sensitivity of 38.5%. The positive predictive value of using a combination of BPD ≤ 5th percentile and BPD/ TAD ratio ≤ 1 for detecting spina bifida was 8.5%. Conclusions Between 11 and 13 weeks' gestation, relating BPD to TAD improves considerably the diagnostic performance of using BPD measurement alone in screening for open spina bifida. Screening using this marker is simple and applicable to a large population. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

The article presents a study which describes and assesses the sonographic findings, evolution and clinical implications of thrombosis of the fetal dural sinuses. It was found that thrombosis of the cerebral venous circulation can occur antenatally and is detectable by fetal real-time and color Doppler ultrasound examination. It notes that a review of the literature supports targeted evaluation of the fetus by ultrasound imaging and magnetic resonance imaging to guide the diagnosis.

Small follicular or functional theca-lutein cysts are a common finding in fetal and neonatal ovaries. After delivery, decrease of hormonal stimulation may lead to spontaneous resolution of the cyst. A high rate of complication has been underlined by recent studies, the most common being ovarian torsion with subsequent loss of the ovary. Because torsion may happen with any size of cyst, however large or small, we suggest in utero decompression even in small fetal ovarian cysts (< 5 cm). We report here three cases of such cysts managed by intrauterine aspiration with good outcome and no further need for neonatal surgery. In all cases cytology of the cyst aspirate demonstrated numbers of granulosa cells and fluid biochemistry showed a high amount of estradiol, progesterone, and testosterone that confirmed the etiology as ovarian. Despite the small size of the cysts, no technical difficulties were encountered and no maternal or fetal morbidity occured. Prenatal management of fetal ovarian cysts remains controversial, however, and our limited experience needs to be assessed on a larger number of cases. [ABSTRACT FROM AUTHOR]

An abstract of the conference paper "Congenital laryngeal atresia: prenatal diagnosis and management, about a retrospective French study of 7 cases," by G. Haddad, and colleagues is presented.

An abstract of the article "Ultrasound prenatal diagnosis of Pompe disease: is it possible?," by G. Haddad and colleagues is presented.