Suspicious Prenasal Skin Thickness-to-Nasal Bone Length Ratio: Prevalence and Correlation with Other Markers in Second and Third Trimester Fetuses with Down Syndrome.

PURPOSE: To assess the prevalence and value of a suspicious prenasal skin thickness-to-nasal bone length ratio (PT/NB ratio) in comparison to other established markers in a large population of Down syndrome (DS) fetuses. MATERIALS AND METHODS: This was a retrospective study of 139 DS fetuses and 530 normal fetuses scanned after 14 + 0 weeks of gestation. To characterize diagnostic performance, we used the ROC curve approach. The presence or absence of a PT/NB ratio > 0.8 and 11 other markers were assessed in the group of DS fetuses. A correlation analysis was performed in order to investigate associations between PT/NB ratio and other markers. RESULTS: Among DS fetuses the median PT/NB ratio was 1.06 (IQR 0.729) and was significantly higher compared to normal fetuses with 0.62 (IQR 0.148), (p < 0.001). Gestational age had no influence on the PT/NB ratio. A PT/NB ratio > 0.8 had the highest prevalence of all markers with 89.2 % in the group of DS fetuses, 3 cases were negative for all markers and 3 cases were positive only for PT/NB ratio > 0.8. Marker-specific comparison between prevalences of a suspicious PT/NB ratio with respect to the presence or absence of other markers was statistically significant for hypoplastic NB and major anomalies (p < 0.05). Utilization of at least one of the following five markers was sufficient for detecting 136 out of 139 fetuses with trisomy 21: suspicious PT/NB ratio, hypoplastic NB, nuchal fold thickness, white spot, shortened femur. CONCLUSION: The PT/NB ratio is one of the most powerful indicators of DS in the second trimester. It is objective to interpret, easy to measure, and is reproducible.

The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age.

PURPOSE: To evaluate the acceptance of noninvasive screening for trisomy 13, 18, 21 and the impact on invasive testing rates in women at an age≥35 years. MATERIALS AND METHODS: In a retrospective analysis from 2003-2006 including 13 268 women≥35 years old with singleton pregnancies and 3133 invasive procedures, we evaluated the prenatal detection rate of aneuploidies in two cohorts. Group 1: advanced maternal age as sole indication, group 2: additional abnormalities and/or suspicious maternal serum parameters. In an additional analysis from 1998-2006 including 31,076 patients≥35 years, we investigated the shift in time of sonography at 11+0-13+6, 14+0-17+6 and 18+0-22+6 gestational weeks (gw). RESULTS: Among 13,268 women, 3133 invasive tests were performed with a significant decrease over time (-17%). 9% of women chose invasive testing after a normal ultrasound (group 1, n=1,267) and 14% in the case of additional markers (group 2, n=1,866). 102 cases of aneuploidy were disclosed. The proportion of detected aneuploidies was 0.86% in group 1 and 4.9% in group 2. No change in the overall detection rate (90-93%) was observed. The number of patients≥40 years increased significantly (+2.8%). There was an increase in examinations at 11+0-13+6 gw (+8%), a decrease at 14+0-17+6 gw (-10.3%) and no significant change at 18+0-22+6 gw over time. CONCLUSION: Increasing numbers of women≥35 years of age rely on the individually adjusted risk figure to make a decision about invasive testing. The application of these selective procedures can reduce the rates of invasive testing with fewer losses of normal fetuses and led to an earlier diagnosis of aneuploidies.

[Intrauterine treatment of incomplete fetal heart block in a mother with Sjögren syndrome]. / Intrauterine Therapie eines inkompletten AV-Blocks bei einer Mutter mit Sjögren-Syndrom.

BACKGROUND: Isolated fetal heart block is considered as an immunological disorder in the majority of cases. Mothers of affected fetuses often suffer from connective tissue disease (Sjögren syndrome or Lupus erythematodes). All of them test positive for anti-SS-A (anti Ro) and/or anti-SS-B (anti La) antibodies. Once established, third-degree congenital heart block is permanent and often requires a pacemaker. CASE: We report on a pregnancy in a mother with Sjögren syndrome which was complicated by the development of incomplete fetal heart block, diagnosed by pulsed wave Doppler echocardiography. We started oral dexamethasone treatment to reduce immune-mediated fetal cardiac damage and to prevent complications like hydrops fetalis. CONCLUSION: Detection of isolated fetal heart block is possible with pulsed Doppler sonography, but there are no clear recommendations for treatment.

Early diagnosis of conjoined twins by real-time three-dimensional ultrasound--case report and review of the literature.

In 1:50 000 to 1:100 000 births, conjoined twins occur, caused by incomplete division of the embryonic disc more than 13 days after fertilisation. We present a case of cephalothoracopagus janiceps, a very rare form of conjoined twins, which was diagnosed at 13 weeks of gestation. Three-dimensional and colour Doppler ultrasound enabled precise prenatal visualisation of the fusion of the foetal head and chest up to the umbilicus. We could demonstrate the presence of two foetal hearts connected by an arterio-arterial shunt as well as two pairs of upper and lower extremities. After the clear 3-D presentation of the anomaly, making the poor prognosis visible, the mother decided to have the pregnancy terminated. Autopsy confirmed the prenatal diagnosis.

Prenatal diagnosis of isolated foramen ovale obstruction. A report of two cases.

Premature obstruction of the foramen ovale is a rare but serious clinical entity. Obstruction can be associated with right ventricular failure, fetal hydrops, tricuspid regurgitation, left heart obstructive defects and supraventricular tachycardia. In most cases, the diagnosis is made at the postmortem examination. The etiology is unknown. We discuss 2 prenatal cases with the sole diagnosis of ventricular asymmetry. The right ventricle was dilated and hypertrophic, and the foramen ovale ballooned into the left atrium without color Doppler detection of right-to-left flow. After delivery, the infants had no hydrops or symptoms of cardiac or respiratory distress. Echocardiography demonstrated a structurally normal heart with increased right ventricle dimensions until the 7th day of life. Delivery should be induced if possible in cases of foramen ovale obstruction with signs of cardiac decompensation.

[Magnetic resonance tomography in the differential diagnosis of ovarian tumor and mucocele of the appendix]. / Magnetresonanztomographie in der Differentialdiagnose von Ovarialtumor und Mukozele der Appendix.

Ultrasonography in a 73-year-old woman revealed two cystic structures in the region of the right adnexa. Magnetic resonance imaging suggested two morphologically distinct, space-occupying lesions, findings confirmed at operation and histological examination of the surgical specimen, which demonstrated a serous cystadenoma of the right ovary and a mucocele of the appendix.

[Imaging diagnosis of ovarian tumors. Magnetic resonance tomography in comparison with computerized tomography and sonography]. / Bildgebende Diagnostik der Ovarialtumoren. Magnetische Resonanztomographie im Vergleich zu Computertomographie und Sonographie.

The present paper compares the results of MRT with sonography in 64 patients with tumours of the adnexa in 35 patients examined by CT. There was no difference between these three imaging methods as regards lateralisation of the lesion. MRT provided better differentiation because of the excellent demonstration of the uterus and of tumours of the adnexa. Detailed tissue characterisation, particularly as regards cystic lesions, provides improved diagnostic information. MRT has problems, however, because of its low spatial resolution and the difficulty in differentiation from bowel loops. At present sonography and CT is better at establishing a differential diagnosis. CT remains the method of choice for tumour staging.

[Magnetic resonance tomography of ovarian tumors]. / Magnetische Resonanztomographie der Ovarialtumoren.

The results of 64 MR examinations in 52 patients with benign, malignant and inflammatory lesions of the adnexa are presented. In each case, surgery or laparoscopy was carried out, so that it was possible to compare the findings on MRT with the histological results. Multiplanar images of gynaecological lesions provide excellent demonstration of the pathological anatomy. High soft tissue contrast makes it possible to differentiate tissues, particularly in the case of serous, mucinous and haemorrhagic fluid collections, as well as solid and fat-containing tissue. High sensitivity may be expected in the demonstration of dermoid and endometrial cysts. The distinction between benign and malignant lesions must, however, be based on morphological criteria. The combination of T1 and T2 sequences is necessary for adequate MR examinations of gynaecological lesions.

[Prenatal ultrasonic diagnosis of a cystic abdominal tumor--liver cyst and its differential diagnosis]. / Die pränatale ultrasonographische Diagnose eines zystischen Abdominaltumors--die Leberzyste und ihre Differentialdiagnose.

A report is presented on the prenatal development of a solitary hepatic cyst in a fetus of the 39th week of pregnancy. Sonography revealed that nearly the entire abdomen was filled by a cyst that caused displacement of the stomach and intestine as well as elevation of the diaphragm. Abdominal distension necessitated delivery before term by cesarean section. The laparotomy subsequently performed because of increasing dyspnea of the newborn showed the left lobe of the liver to be the point of origin of a solitary hepatic cyst that could be removed in toto. Possibilities of post partum therapy are discussed in addition to obstetrical management. The incidence, localisation and size of solitary hepatic cysts as well as their differential diagnosis are also described.