Assessment of Midfacial Hypoplasia in Down Syndrome Fetuses - Validity of a Two-Line Approach and Introduction of a Novel Angle (Maxilla-Mandible-Nasion Angle).

PURPOSE: To scrutinize the validity of a novel angle (maxilla-mandible-nasion angle, MMN) as objective proof of midfacial hypoplasia in trisomy 21 fetuses. MATERIALS AND METHODS: Volume data sets of 2(nd) trimester fetuses were reviewed in this retrospective study. After achievement of the correct midsagittal position, the fetal profile line (FP line) and the mandibulo-maxillary line (MML) were applied and the resulting angle was calculated. Additionally, the prefrontal space ratio (PFSR) was assessed. Both measurements were obtained from 401 euploid fetuses and 42 fetuses with trisomy 21. Values for MMN and PFSR<5(th) percentile were considered abnormal. RESULTS: The study included 443 fetuses with a mean gestational age of 21.3 weeks (range: 14.0-26.3). The MMN angle sufficiently identified hypoplasia of the midface in trisomy 21 fetuses (mean: 14.6°; range: 10.1°- 22.0°) compared to controls (mean: 20.5°; range: 17.3°-23.7°; p<0.0001). Concomitantly, the PFSR of Down syndrome fetuses was significantly lower (mean: 0.53; range: 0.21-1.22) than in euploid individuals (1.38; range: 0.54-2.23; p<0.0001). CONCLUSION: Calculation of the novel MMN angle in 2(nd) trimester fetuses reliably allows rapid assessment of craniofacial anatomy in order to rule out the midfacial hypoplasia frequently found in trisomy 21.

Therapeutic management of evans syndrome in a pregnancy with maternal systemic lupus erythematosus.

A 31-year-old 2 G 1 P was referred to our unit of prenatal medicine at 35+3 weeks of gestation with a spontaneously conceived singleton pregnancy of a female fetus without detectable anomalies. Maternal hematological evaluation revealed an Evans-syndrome-related thrombocytopenia based on a lupus erythematosus. The former delivery was aggravated by a severe hemorrhage several years before. Anti-autoimmunologic therapy was started and maternal platelets count increased to physiological values. Uneventful ceasarean section was performed at 37 weeks of gestation with favourable outcome for mother and child. This case is the first report of a successful therapy in maternal Evans syndrome in pregnancy combined with a lupus erythematosus.

Novel insights into early embryonic demise via 3D surface rendered imaging in 107 cases.

PURPOSE: Sonographic imaging techniques including 3 D volumetry were evaluated in women with missed abortion. Special emphasis was put on the impact of additional information regarding the etiology of the demise and improved visualization of embryonic and fetal anomalies due to the application of the latest imaging tools, e. g. HD live™. Parental acceptance of a more realistic display of the embryo/fetus in missed abortion was analyzed. MATERIALS AND METHODS: Between 09/2009 and 09/2012, 107 pregnancies with a missed abortion in the first trimester were included in this prospective survey. Using a transvaginal approach, all 2 D and 3 D studies were carried out with high-resolution 5 - 9 and 6 - 12 MHz probes. RESULTS: The mean gestational age was 70.3 days (49 - 110 days). The difference between estimated gestational age and sonographic age at evaluation for missed abortion was 13.5 days (-13 - 40 days). Additional information via three-dimensional volume acquisition, like craniofacial deformities, clefts, neural tube defects, abdominal wall defects and caudal regression syndrome, could be documented in 23/107 cases (21.5 %). In 2/107 cases the parents disapproved of the 3 D visualization due to the more realistic presentation. CONCLUSION: 3 D ultrasound in cases of missed abortion can provide additional information regarding the presence of structural anomalies. It may give further details regarding the timing of embryonic/fetal demise in early pregnancy. Sufficient informational value is regularly obtained in cases having a CRL > 8 mm. In counseling parents, 3 D ultrasound is a useful tool and is generally well accepted.

[Congenital gastroschisis--prenatal diagnosis and perinatal management]. / Kongenitale Gastroschisis--pränatale Diagnose und perinatales Management.

The birth prevalence of gastroschisis is increasing world-wide. This situation applies particularly to young, slim women who smoke. At a first glance this is a paradox in light of the ever-increasing age of pregnant women among whom there are fewer and fewer smokers. In numerous studies it has been clearly demonstrated that not only (nutritional) teratogenic substances and environmental factors but also epidemiological causes can be held responsible for this phenomenon. Nowadays gastroschisis is detected prenatally in up to 90% of all foetuses. Advantages of a prenatal diagnosis include the identification of associated disorders and the determination of a high-risk constellation (IUGR, intraabdominal bowel dilatation or vanishing gut). This is essential for an adequate interdisciplinary counseling for the afflicted parents together with obstetricians, paediatric surgeons and neonatalogists. The efficacy of serial amnioexchanges with regard to a better neonatal outcome has as yet not been unambiguously clarified. The possibilities for surgical procedures on the foetus are limited and can at present only be considered as experimental attempts in animal models. From an obstetrical perspective the in utero transport and elective Caesarean section before completion of the 36 (th) week of gestation in a tertiary centre with appropriate facilities (paediatric surgery, neonatalogy) seem to be the course recommended by most authors in spite of inconclusive data. The survival rates for babies with gastroschisis after operative treatment (primary defect closure, silotechnique) are considerably high (>90%).