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.

Persistent right umbilical vein: a prenatal condition worth mentioning?

OBJECTIVES: To investigate the incidence and clinical impact of prenatally diagnosed persistent right umbilical vein (PRUV) in a referral population and to evaluate the findings together with those from previous publications. METHODS: This was a retrospective analysis of 39 cases with PRUV diagnosed in three tertiary referral centers for prenatal medicine between 1996 and 2009. Fetuses with situs inversus, situs ambiguous and heterotaxy (left and right isomerism) were excluded. During the study period 46 653 consecutive high- and low-risk pregnancies were examined. The prenatal sonograms and neonatal outcome data of affected individuals were reviewed. Our findings were analyzed together with findings retrieved from the scientific literature. RESULTS: Twenty-nine fetuses had an isolated PRUV as a single anomaly, whereas 10/39 (25.6%) were found to have PRUV accompanied by additional minor and major abnormalities. These anomalies comprised mainly cardiovascular, genitourinary and gastrointestinal malformations. In common with our series, previously published cases of isolated PRUV (n = 197) displayed an uneventful course of pregnancy and a favorable postnatal outcome. Sixty-six previously reported cases of PRUV with additional anomalies were identified in the literature. Intrahepatic umbilical drainage is the most frequent type of PRUV. Including our cases, there were 16 cases (5.3%) with extrahepatic drainage of PRUV, all of which had additional anomalies. CONCLUSIONS: Consistent with previous reports, in the majority of cases (74.8%) PRUV is an isolated finding. While these cases carry an excellent prognosis, PRUV can be associated with severe congenital anomalies, so this finding should prompt detailed prenatal assessment of the fetus.

[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%).

Prevalence, characteristics and perinatal outcome of fetal ventriculomegaly in 29,000 pregnancies followed at a single institution.

OBJECTIVE: Our purpose was to assess the impact of prenatally diagnosed ventriculomegaly (VM) on the course of advancing pregnancy and the postnatal outcome of affected fetuses. METHODS: In this retrospective survey 109/28,935 (3.8 per 1,000) singleton pregnancies with abnormal width of the fetal lateral ventricle system diagnosed by antenatal ultrasound examination at the University Hospital of Schleswig-Holstein, Campus Lübeck, were reviewed between 1993 and 2007. Clinical data and pregnancy outcome information were derived from a standardized parental questionnaire or from hospital records. Postnatal follow-up was obtained in >90%. RESULTS: Forty-seven cases with isolated VM (IVM; 43%) and 62 fetuses (57%) with nonisolated VM were diagnosed. In the IVM group 19 cases had mild and 28 fetuses severe VM. Of 62 cases with non-IVM there were 32 with mildly dilated ventricles and 30 had severe enlargements. Chromosomal aberrations were present in 5 fetuses (4.6%) of the non-IVM group. Thirty-four pregnancies (31%) were terminated on parental request (10 IVM/24 non-IVM). The risk of abnormal neurodevelopmental outcome was highest in the presence of associated anomalies (irrespective of the extent of dilatation) and in cases with severe IVM (91 and 68%, respectively). In contrast, 13/14 children with mild IVM showed an age-related normal psychomotor behavior. Fetuses with severe VM had a 2.2- (IVM) to 3.6-fold (non-IVM) elevated risk of progressive dilatations compared to mild VM. In our study the fetuses with asymmetrical bilateral IVM tended to have severe ventricular enlargements more often. CONCLUSIONS: As reported previously we found a positive association between neurodevelopmental delay and the degree of lateral ventricular dilatation. The presence of additional abnormalities is generally a poor prognostic sign and accompanied by a nonfavorable postnatal outcome.

Long-term outcome for children born after a first-trimester measurement of increased nuchal translucency with a normal karyotype: a retrospective analysis.

PURPOSE: To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency with respect to fetal loss, structural defects genetic syndromes, and neurological outcome. MATERIALS AND METHODS: Retrospective analysis and telephone interview. All included pregnancies underwent a mid-trimester anomaly scan. RESULTS: 279 pregnancies were included. The overall live birth rate was 81.4 %, and decreased as the NT measurement increased. The most common structural defect was cardiac anomalies (7 %). If the second-trimester anomaly scan was uneventful, the chance of a healthy live birth was 92 %. The number of unexpected neurodevelopmental delays after a normal scan during mid-trimester was 1.1 %. CONCLUSION: Counseling should emphasize that if the karyotype is normal and no fetal structural malformations were missed prenatally after resolution of nuchal thickening, the prognosis is positive.

Course and outcome of fetuses suspected of having coarctation of the aorta during gestation.

PURPOSE: To report the course and outcome of a group of fetuses with prenatal suspicion of coarctation of the aorta. MATERIALS AND METHODS: Retrospective observational study in two tertiary fetal cardiology centers between 1993 - 2005. RESULTS: 96 fetuses of whom 52 infants were born alive were studied. Of the 52 liveborn infants, 34 had coarctation of the aorta (65.4 %), thirteen had prenatally diagnosed additional cardiac anomalies (VSD, ASD, aortic and pulmonary stenosis, persistent left superior vena cava) and three were managed as having hypoplastic left heart syndrome. Three neonates had additional extracardiac malformations diagnosed prenatally. 22 neonates underwent surgery, nineteen within the first ten days of life. One neonate only developed clinical signs of coarctation on the fourteenth day of life. The early surgical mortality was three of 22 (13.6 %). The mortality was influenced by prematurity. The survival rate on the basis of intention-to-treat was twenty-nine of 34 neonates with confirmed coarctation (85.3 %). CONCLUSION: Coarctation of aorta during fetal life continues to be a difficult diagnosis. The potential of progressive hypoplasia of left heart structures during gestation in the case of fetal aortic isthmus stenosis with the development of a hypoplastic left heart should be kept in mind and therefore sequential echo-cardiography is recommended during gestation.