A short fetal femur in prenatal diagnostics (PND) might be an indication for intrauterine growth retardation (IUGR), a genetically determined small child (SGA) with or without associated fetal malformations and/or an adverse fetal outcome. 1373 singleton pregnancies with a femoral length < 5th percentile (Verburg et al. 2008) detected between 1999-2015 during second trimester screening in a tertiary prenatal diagnostic centre were subjected to a descriptive retrospective analysis with regard to maternal and fetal characteristics as well as pregnancy outcome. 669 (48.7%) fetuses presented with an isolated short femur, while 704 (51.3%) showed additional abnormalities. 263 (37.4%) of those were SGA babies without any additional malformation, while 441 (62.6%) had one or more severe malformation of the following organ systems: 158 (22.4%) cardiovascular, 101 (14.3%) musculoskeletal, 82 (11.6%) urogenital, 72 (10.2%) cerebrocephalic, 49 (7.0%) gastrointestinal, 5 (0.7%) thoracic. 75 (10.7%) of the fetuses showed chromosomal aberrations of which Trisomy 13, 18 and 21 were found in 2, 13 and 27 of the cases, respectively. Fetuses with associated malformations had a significantly lower live birth rate than those without (67.6% vs. 98.2%, p < 0.001); in addition, a higher rate of preterm births (26.1% vs. 10.3%, p < 0.001) and small for gestational age (SGA) babies (39.2% vs. 28.2%, p < 0.001) were observed in the first collective. Diagnosis of a short femur within the biometric measurement should lead to an extended organ screening; in the case of associated abnormalities additional genetic testing has to be offered as well as intensified pregnancy monitoring in pregnancies at risk for IUGR and/or preterm birth. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Der (zu) kurze fetale Femur in der Pränataldiagnostik (PND) kann Indiz sein für eine intrauterine Wachstumsretardierung, ein genetisch bedingt kleines Kind, für assoziierte fetale Fehlbildungen sowie ein adverses fetales Outcome.

Der (zu) kurze fetale Femur in der Pränataldiagnostik (PND) kann Indiz sein für eine intrauterine Wachstumsretardierung, ein genetisch bedingt kleines Kind, für assoziierte fetale Fehlbildungen sowie ein adverses fetales Outcome.

Gastroschisis is an abdominal wall defect resulting in herniation of fetal bowel and other abdominal viscera into the amniotic cavity. It requires early surgery after birth. Aim of this retrospective study is a survey of prenatal findings, associated malformations and predictive factors for neonatal outcome. This is a retrospective review of all cases of gastroschisis detected prenatally between 1997 and 2008 in a tertiary referral center in Germany. In a collective of 119 041 assessed pregnancies we identified 78 cases of fetal gastroschisis. In 73 cases the gastroschisis was an isolated finding, in 5 cases associated malformations were found. There was no gender preference (male n = 39, female n = 39). In 54% of all cases the mother was aged 25 years or younger. Sixty-five fetuses were born alive, of which 84% had a primary closure of the abdominal wall. In 16% further surgery was necessary. Three neonates died within the first 4 weeks of life. In 3 cases intrauterine death occurred and in 4 cases the pregnancy was terminated. Six cases are still ongoing. Gastroschisis detected in fetal life is usually an isolated finding. The majority of fetuses is born alive and can be transferred to pediatric surgery. In most cases a primary closure of the abdominal defect is possible with a favourable neonatal outcome. Our results are in concordance with other surveys of fetal gastroschisis.

To assess the spectrum of underlying diseases in cases of fetal anemia in which the cause was unknown in the intrauterine period. All patients that underwent intrauterine transfusion were identified in the perinatal databases of two tertiary referral centers for prenatal medicine and fetal echocardiography between 2002 and 2007. All cases in which the cause of fetal anemia was unknown at the time of second transfusion or thereafter were considered as the primary study population. 78 fetuses received an intrauterine transfusion in the study period. A total of 356 transfusions were performed in these patients. The causes of fetal anemia in our cohort were alloimmunisation (32), parvovirus infection (23), feto-fetal transfusion syndrome (9), sacrococcygeal teratoma (2) and cytomegalovirus infection (1). In the remaining 11 cases the cause of fetal anemia was unknown at the time of second transfusion and could only be ascertained in the further course of pregnancy or in the postnatal period. In all cases markedly elevated maximum systolic velocities in the middle cerebral artery accurately predicted fetal anemia. The final diagnosis in these cases was fetomaternal hemorrhage (2), Blackfan-Diamond anemia (1), generalised neonatal hemangiomatosis (1), elliptocytosis (1), neonatal hemochromatosis (1), mucopolysaccharidosis type VII (1) and in 4 cases the cause of fetal anemia remained unexplained. The latter 4 cases had an uneventful postnatal course and did not require further transfusions, suggesting fetomaternal haemorrhage as the most probable cause. In cases of fetal anemia with negative indirect Coombs-test and TORCH-serology, rare causes of anemia have to be considered. Fetal studies should therefore include reticulocyte count, parameters of hemolysis, peripheral blood smear and fetal liver function tests. Maternal studies should include a search for fetal cells using flow cytometry rather than Kleihauer-Betke test.

Einleitung: Gastroschisis bezeichnet eine angeborene Fehlbildung der Bauchwand, bei der durch einen meist rechtsseitig gelegenen Defekt abdominale Organe, insbesondere Dünndarmschlingen, in die Amnionhöhle prolabieren. Intrauterin besteht die Gefahr einer Dünndarmatresie sowie einer sekundären Schädigung der Dünndarmschlingen durch den Kontakt mit Fruchtwasser. Ziel dieser Studie ist die Darstellung der pränatalen Diagnostik der Gastroschisis, die Auswertung von Begleitfehlbildungen und Risikofaktoren sowie des neonatalen Outcomes.

PURPOSE:The aim of this study was to evaluate the impact of maternal risk factors on excess fetal loss related to amniocentesis.MATERIALS AND METHODS:We compared fetal outcome and details of risk factors for fetal loss in 20,460 patients undergoing amniocenteses between April 1997 and March 2005 to 11,017 controls given ultrasound during the same period in our tertiary level prenatal unit. The risk factors were recorded before the procedure. Spontaneous fetal loss was defined as spontaneous miscarriage and intrauterine fetal demise at any gestational age.RESULTS:The excess rate of spontaneous loss attributed to the amniocentesis procedure averaged 0.49 % (CI: 0.26 - 0.72) for all pregnancies under routine care (1.31 % 268/20,460 versus 0.82 % 90/11,017). The fetal loss rate was increased in the intervention group for the following isolated risk factors: vaginal bleeding before procedure (19/647, 2.9 % CI: 1.6 - 4.2 %); vaginal bleeding at date of procedure (3/33, 9.1 % CI: - 0.7 - 18.9 %); a history of 3 or more spontaneous abortions (6/257, 2.3 % CI: 0.5 - 4.2 %); body mass index > 40 (5/160, 3.1 % CI: 0.4 - 5.8 %) and cigarette consumption > 10/day (13/671, 1.94 % CI: 0.9 - 3.0). If none of these risk factors was present, the abortion rate in the intervention group was 1.18 % (219/18,617) and 0.63 % (61/9,677) in the control group. Maternal age > 40 at birth did not alter the rate of loss in the intervention group, but did in the control group (1.4 % 38/2,717 and 1.69 % 7/414).CONCLUSION:After routine amniocentesis patients have an additional procedure-related risk of spontaneous pregnancy loss equivalent to 0.5 %. The absence of risk factors in the patient's history does not reduce this additional risk.

This report describes a disseminated infection with mycobacteria of the avium/intracellulare complex in a Persian cat in the absence of cutaneous lesions. Postmortem examination revealed severe granulomatous inflammation with numerous intrahistiocytic acid-fast bacilli in multiple organs. A gastrointestinal port of entry seems likely, as the ileocaecal lymph node was most severely affected.

Most expectant parents want to know as early as possible whether their unborn child will be born healthy or with a structural malformation. Particularly with regard to chromosomal disorders, couples wish to have early diagnostic clarification in order to consider adjustments needed in the event of giving birth to a child with abnormalities or to terminate the pregnancy. Trisomy 21 is the most common chromosomal abnormality in liveborn infants with an incidence of 1/600 of 1/600 1/800 in the general population. First Trimester Screening (FTS) at 11 + 0 – 13 + 6 weeks of pregnancy offers an early assessment of the risk for aneuploidies. Nuchal translucency and other ultrasound parameters in combination with maternal age and biochemical parameters, like free beta HCG and PAPP-A, can be used to estimate an individualized risk for the three most common chromosomal disorders (trisomy 21, 13 and 18) at an early stage.