Mehrlingsschwangerschaften, bei denen nebst einer kompletten Mole ein unauffälliger Fetus mit normaler Placenta vorliegt, sind mit einer Inzidenz von 1:20 000 – 120 000 sehr selten, zeigen aber eine erhebliche maternale und fetale Morbidität bzw. Mortalität und tragen das Risiko einer persistierenden Trophoblasterkrankung (PTD). Etwa 50% dieser Schwangerschaften treten nach vorheriger Fertilitätsbehandlung auf. Im Allgemeinen wird ein Schwangerschaftsabbruch empfohlen. Das Fortführen dieser Schwangerschaften erfordert ein gut abgestimmtes interdisziplinäres Management.
Einleitung Für Zwillingsschwangerschaften ist die Performance für das Präeklampsiescreening (PE-Screening) im 1. Trimenon sowie der Effekt von low dose Aspirin (LDA) zur Senkung des Risikos für eine Präeklampsie vor 37 SSW (pPE) zurzeit noch unklar. Das Ziel dieser Studie ist, die einzelnen Screeningmarker im 1. Trimenon sowie das kombinierte Screening für pPE für Zwillinge mit Einlingsschwangerschaften in der IPSISS Kohorte zu vergleichen.
Purpose: Prenatal care has been significantly influenced by the introduction of noninvasive prenatal testing (NIPT) for aneuploidies in 2012. In Switzerland starting from July 2015 the national insurance companies cover NIPT as a second line screening for women who are at an intermediate or high risk after first trimester screening (FTS). The aim of this study was to describe the changes in prenatal testing after the integration of NIPT into national health care plans.
In the management of uterine fibroids, morcellation enables a minimal invasive surgery. However, cases of unsuspected uterine sarcomas dissemination have been reported. To evaluate the risk of uterine sarcoma, we assessed sonographic criteria (Leuven Score, LS). We prospectively evaluated all consecutive patients planned for surgery between 07/2015-11/2019 for uterine lesions with a standardised ultrasound examination. For triage the following criteria were investigated: rapid growth in past 3 months, high blood flow, atypical growth (postmenopause), irregular lining, central necrosis and oval solitary lesion). The evaluation of the criteria was binary, i.e. the score can range from 0 to 6. We included 503 patients (13 uterine sarcoma, 490 myomas). In the sarcoma group, 9 patients were postmenopausal (69,2%) (median age 65,7 years) and 4 premenopausal (30,8%), while in the myoma group, 383 patients were premenopausal (78%) (median age 47.3 years). For the detection of sarcoma in the postmenopausal women, the sensitivity was 88.8%, specificity 77.5%, PPV 25% and NPV 98.8%. For premenopausal women the sensitivity was 75%, specificity 88.2%, PPV 62%, NPV 99.7%. The median LS for sarcoma was 2 (range: 0-4, mean 2,25) vs 0 for myomas (range: 0-3, mean 0.17). The most common sonographic criteria leading to a false-positive score was a rapid growth in past 3 months. The use of the LS could help to distinguish between benign uterus myomatosus and sarcoma, with a high probability of a benign histology if the score is negative. Caution is required when ≥ 1 criteria is present in postmenopausal women. In those cases, we do not recommend morcellation. For premenopausal women, the rapid growth may lead to a false-positive score; a score ≥ 3 increases accuracy. We suggest the use of the LS routinely in preoperative patient triage.
Abstract Background Fetal ultrasound organ screening has become a standard of care in most high-income countries. This has resulted in increased detection of congenital abnormalities, which may lead to major uncertainty and anxiety in expectant parents, even though many of them are of minor relevance. In order to optimize prenatal counselling, we introduced an interdisciplinary approach for all pregnant women referred to our center by private obstetricians for a co-assessment of suspected relevant fetal abnormalities of the kidney or urinary tract, involving both experienced prenatal ultrasound specialists and a pediatric nephrologist or urologist. Methods In a retrospective analysis, we evaluated reports of intrauterine evaluation and postnatal follow-up in order to assess accuracy of explicit intrauterine diagnoses and outcome of hydronephroses according to their severity in this setting. Results A total of 175 fetuses were examined between 2012 and 2019 and followed postnatally at our Pediatric Nephrology or Urology Department. There was a high concordance (85.9%) between explicit intrauterine and final diagnoses. Resolution rate of hydronephrosis was higher in patients with intrauterine low-grade than high-grade hydronephrosis (61.8% versus 11.9%). An etiological diagnosis was found in 62.5%, 52.0%, and 11.1% of patients with intrauterine bilateral high-grade, unilateral high-grade, and unilateral high-grade with contralateral low-grade hydronephrosis, respectively, but in none of the patients with intrauterine low-grade hydronephrosis. Conclusions The results of our study demonstrate that, through interdisciplinary teamwork, intrauterine assessment of the fetal kidneys and urinary tract is highly accurate and allows a good discrimination between relevant and transient/physiological hydronephroses. Graphical abstract
Durch die kommerzielle Einführung nicht-invasiver Pränataltests (NIPT) zur Testung der häufigsten Trisomien (21, 13, 18) mittels zellfreier DNA-Isolierung aus mütterlichem Blut im August 2012 wurden die pränatalen diagnostischen Möglichkeiten erweitert. Ziel der Studie war den Entscheidungsalgorithmus vor und nach Einführung der NIPT sowie die Rate an invasiver Diagnostik nach dem Ersttrimesterscreening (ETS) zu untersuchen.
To study the ratio of prenasal thickness (PT) to nasal bone length (NBL) in normal fetuses, fetuses with common trisomies and fetal abnormalities in the second and third trimester of pregnancy. The PT and NBL were measured in two-dimensional images prospectively in 1398 fetuses. Both measurements and their ratio were compared in normal fetuses (n=1158), fetuses with trisomies 21/13/18 (n=42) as well as fetuses with multiple malformations (n=27), other chromosomal disorders (n=14) and musculoskeletal anomalies (n=14). The PT:NBL ratio was significantly higher in Trisomy 21 fetuses than in controls (0.93 versus 0.6, p < 0.001). The ratio was stable throughout gestation. The detection rate of the PT:NBL ratio for Trisomy 21 was 71.4% (CI 50.7 % - 85.4 %) and 68.6 % (CI 50.7% - 83.2%) when the 95th percentile and ≥ 0.8 was used as a cut-off, respectively. The PT:NBL ratio was significantly higher in fetuses with trisomies 18/13 fetuses than in controls (0.91 versus 0.6, p < 0.01) and above the 95th percentile in 83.3%. For fetuses with multiple malformations (n=13), other chromosome disorders (n=4) and musculoskeletal anomalies (n=3) the cut-off ≥ 0.8 or ≥ 95th percentile for the PT:NBL ratio had a detection rate of, 34.5% (19/55) and 36.4% (20/55). The ROC analysis of the PT:NBL ratio for all categories, revealed an AUC of 0.92 (95% CI: 0.86-0.98) for Trisomy 21 and 0.75 (95% CI: 0.45-1) for Trisomy 18 and 13 and confirmed the test quality of the PT:NBL Ratio. The PT:NBL ratio is stable in the second and third trimester of pregnancy in both, normal and Trisomy 21 fetuses. It has a good discriminative power for the detection of Trisomy 21, 13 and 18 compared to normal fetuses. The PT:NBL ratio might also be an additional useful parameter for the detection of certain other fetal abnormalities, chromosomal-, syndromal- and musculoskeletal disorders. 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.
'/%3e%3cuse xlink:href='%23a' transform='scale(-1 1)'/%3e%3c/g%3e%3cuse xlink:href='%23b' transform='rotate(72)'/%3e%3c/g%3e%3cuse xlink:href='%23b' transform='rotate(-72)'/%3e%3cuse xlink:href='%23c' transform='rotate(144)'/%3e%3c/svg%3e)
