Ratio of fetal choroid plexus to head size: simple sonographic marker of open spina bifida at 11-13 weeks' gestation.

OBJECTIVES: To measure the ratio of choroid plexus (CP) size to head size in normal fetuses and to compare it to that in fetuses with open spina bifida (OSB) and quantify the subjective sign of a 'dry brain'. METHODS: This was a retrospective study of ultrasound images, obtained during first-trimester screening between 11 and 13 weeks of gestation, from 34 fetuses with OSB and 160 normal fetuses. From the hospital databases, we retrieved images of the fetal head in the transventricular axial plane. We measured the areas of both CPs and the head and calculated the ratio between them. We also measured the longest diameter of each CP and calculated their mean (CP length), and measured the occipitofrontal diameter (OFD) and calculated the ratio of CP length to OFD. Measurements from the OSB fetuses were plotted on crown-rump length (CRL) reference ranges constructed using data from the normal fetuses, and Z-scores were calculated. RESULTS: In the normal fetuses, the CP area increased, while the ratios of CP area to head area and CP length to OFD decreased, with increasing CRL. In 30 of the 34 (88%) fetuses with OSB, both ratios were increased significantly and the CPs filled the entirety of the head, giving the impression of a dry brain. In these cases, the borders of the lateral ventricles could not be identified. CONCLUSIONS: At 11-13 weeks, the majority of fetuses with OSB have reduced fluid in the lateral ventricles such that the CPs fill the head. The dry brain sign is easily visualized during routine first-trimester ultrasound examination while measuring the biparietal diameter, and can be quantified by comparing the size of the CPs to the head size. Until prospective data confirm the usefulness of this sign in screening for OSB, it should be considered as a hint to prompt the examiner to assess thoroughly the posterior fossa and spine. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

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.

[Prenatal diagnostics: current medical aspects]. / Pränataldiagnostik : Aktuelle medizinische Aspekte.

During the last few years, there has been a rapid development in prenatal diagnosis. Due to the improvements in sonographic examinations and the introduction of first-trimester screening, the number of invasive prenatal diagnostic procedures has dropped by more than 50 %. Recently, noninvasive prenatal diagnostic tests with cell-free fetal DNA from maternal blood have also become available and will further enhance this development. As invasive prenatal procedures will become less frequent in the near future, the proportion of procedure-related abortions will further decrease.

Small biparietal diameter in fetuses with spina bifida on 11-13-week and mid-gestation ultrasound.

OBJECTIVES: To assess whether, at 11-13-week and mid-trimester ultrasound examinations, the biparietal diameter (BPD) in fetuses with open spina bifida is smaller than the reference range. METHODS: In a multicenter retrospective analysis of data from 23 fetuses with open spina bifida diagnosed at 16-24 weeks, BPD at diagnosis was compared with that measured at 11-13 weeks, before diagnosis. Z-scores were calculated for comparison of BPD deviations from the reference range within the groups at 11-13 weeks and 16-24 weeks, and between these two time intervals. RESULTS: BPD Z-scores at 11-13 weeks and 16-24 weeks were significantly lower (P < 0.0001) in fetuses with open spina bifida when compared to the reference range, with mean values of - 1.29 and - 2.14, respectively, corresponding to the 10(th) and 1.5(th) centiles, respectively. At 11-13 weeks only six of the 23 (26%) fetuses with open spina bifida had BPD below the 5(th) centile, in comparison to 16 (69%) at mid-gestation. This was confirmed by paired t-test comparing the first-trimester with the second-trimester BPD measurements, which showed significantly slower growth of the BPD in fetuses with spina bifida. CONCLUSION: In fetuses with open spina bifida, BPD is smaller not only in the second trimester, as previously reported, but also in the first trimester. This is most likely due to loss of cerebrospinal fluid. We suggest that a BPD value < 10(th) centile in an otherwise normally grown fetus at 11-13 weeks' gestation should be considered as a potential subtle early marker for open spina bifida.

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.

Epignathus: always a simple teratoma? Report of an exceptional case with two additional fetiforme bodies.

We report on a case of a fetal epignathus combined with two fetus-like structures resembling acardius acranius. The anomaly was detected at 23 weeks of gestation and led to termination of pregnancy at 24 weeks. This is the first description of epignathus with parasitic fetuses detected prenatally. It shows that the boundary between fetal teratoma and multiple pregnancy in special cases may be difficult to define.

Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis.

We report on three pregnancies complicated by Adams-Oliver syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams-Oliver syndrome in which severe anomalies of the extremities were observed at 26+5 weeks' gestation. In this first case, the diagnosis of Adams-Oliver syndrome was made following termination of pregnancy at 27+2 weeks' gestation. In all three cases, autopsy was performed. All fetuses showed anomalies of the extremities, aplasia cutis and symmetric defects of the skull, with bone being replaced by collagenous tissue. Although there have been numerous cases of the postnatal diagnosis of Adams-Oliver syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder.

[Femur-fibula-ulna (FFU) complex in the 33rd week of gestation: ultrasonography, radiology, pathology and differential diagnosis. Case report]. / Femur-Fibula-Ulna(FFU)-Komplex in der 33. SSW - Sonographie, Radiologie, Pathologie und Differentialdiagnose anhand eines Fallberichtes -

We present a case of a 27 year old I. gravida, I. para. Despite of regular ultrasonographic examination the diagnosis of skeletal malformation at the fetus was not before 33. weeks of gestation. It was the rare type of a bothside femur-fibula-ulna (FFU) complex. The FFU-complex is a no lethal malformation with typical unilateral combination from defects of femur and fibula, with contralateral defect of ulna. Dependent to involvement of malformated limbs the FFU-complex is classifiable in four groups. Only in 10 % all limbs are affected. Our case (type IV) showed a peromelia of both upper limbs with stumps of humeri, bothside aplasia of fibula and missing from 4. and 5. toes. There fetus were without nonlimb congenital abnormalities. The etiology of FFU-complex is unknown, the occurrence sporadic. There are never found genetic abnormalities. Familial recurrence is not described. There is no maternal or paternal age effect on FFU-complex. The differential diagnosis must include malformations with reduction anomalies of extremities, like thalidomide syndrome, splenogonadal fusion with limb malformations, Roberts syndrome, oroacral complex or acheiropodia. Mark off are amniotic band too.

Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association.

CHARGE association has been diagnosed postnatally in increasing numbers since the first description in 1979. The acronym CHARGE includes the abnormalities ocular Colobomas (iris, retina or nervus opticus), Heart disease, Atresia of choanae, Retarded growth and development and/or central nervous system anomalies, Genital hypoplasia, Ear anomalies and deafness. So far, no prenatal diagnosis of the CHARGE association has been described; only one case report presents prenatal symptoms detected at 31 gestational weeks. In our case, prenatally detected mild cerebral ventriculomegaly and dysplasia of choroid plexus were abnormalities visible as early as 15+6 weeks as well as mild cerebellar hypoplasia at 21+1 weeks. At 28+6 weeks, in addition polyhydramnios could be found. The combination of the 'benign' central-nervous findings raised suspicion of a severe congenital malformation at 21+1 weeks which was confirmed postnatally in the form of diagnosis of CHARGE association.

The relevance of placental location at 20-23 gestational weeks for prediction of placenta previa at delivery: evaluation of 8650 cases.

OBJECTIVE: To determine the correlation between placental position at 20-23 weeks and incidence of birth complications caused by placental position. SUBJECTS AND METHODS: In an ongoing prospective study, placental position was determined by transabdominal sonography as part of anomaly scanning at 20-23 gestational weeks, followed by transvaginal sonography in uncertain or suspicious situations. Examination was performed in 9532 cases; feedback was obtained from 8650 patients (90.7%). RESULTS: Transabdominal sonography was followed by transvaginal scan in 363 of 8650 cases (4.2%). In 8551 cases (98.9%), we found normal placental position, with the placenta not reaching the internal os and a Cesarean section rate of 17.1% (1458/8551). The incidence of 'low placental position', with the placenta reaching the internal os was 0.66% (57/8650), with a Cesarean section rate of 21% (12/57). In 0.49% (42/8650) of cases, the placenta overlapped the internal os at 20-23 weeks; Cesarean section because of placenta previa or bleeding was performed in 28 of 8650 cases (0.32%). Vaginal delivery was possible in 43% of cases (13/30), when the overlap did not exceed 25 mm. If the overlap exceeded 25 mm (12 cases), no vaginal delivery was reported. There was no reported case of placenta previa missed at the 20-23-week scan. CONCLUSION: At 20-23 weeks, a combination of routine transabdominal and indication-based transvaginal location of placental position is a powerful tool in predicting placenta previa at delivery. The advantage of determining placental position at this stage of pregnancy is a low false-positive rate compared to at earlier stages of pregnancy. We conclude that an overlapping placenta at 20-23 weeks has the consequence of a high probability of placenta previa at delivery. An overlap of 25 mm or more at 20-23 weeks seems to be incompatible with later vaginal delivery.

Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings.

The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to have postaxial hexadactyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy-Walker cyst. In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations.

Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature.

We report on a case of absent pulmonary valve syndrome in a woman with a history of one healthy child and one child with tetralogy of Fallot with absent pulmonary valve. The diagnosis was missed at the first ultrasound examination performed at 13 + 5 weeks of gestation and correctly diagnosed at 21 + 5 weeks. Re-evaluation of the ultrasound examination recorded at 13 + 5 weeks exhibited severe insufficiency of the pulmonary valve at this time. However, neither dilatation of the right and left pulmonary arteries nor asymmetry of the ventricles were present at that time. The pregnancy was terminated at 22 + 1 weeks of gestation when autopsy confirmed the diagnosis of absent pulmonary valve syndrome. Karyotyping of the fetus after termination of pregnancy revealed normal chromosomes. Echocardiography of the parents and the healthy sibling revealed normal results.

Prenatal diagnosis of body stalk anomaly at 9 weeks of gestation. Case report.

We report on a case of embryonic anomaly detected at 9 + 5 gestational weeks. The lower part of the embryo was located in the coelomic cavity. Lower extremities could not be depicted. The abdominal wall showed the appearance of omphalocoele. After termination of pregnancy at 10 weeks, autopsy confirmed the anomaly of the lower embryonic parts consistent with the diagnosis of body stalk anomaly. To our knowledge, this is the first observation of this condition before 10 gestational weeks.

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.

Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.

Sonographic markers of exencephaly at 9 + 3 weeks of gestation.

Following the introduction of transvaginal sonography, several first trimester diagnoses of the exencephaly anencephaly sequence have been reported, with the earliest being described at 10 weeks of gestation. We report a case with a high index of suspicion for exencephaly at 9 weeks and 3 days because of three sonographic features: the cranial pole of the embryo was smaller than the chest, the cranial pole bulged dorsally and the surface of the cranium was irregular. The diagnosis was confirmed by a repeat ultrasound examination at 11 + 4 weeks and by autopsy after termination of pregnancy.

[Hepatocellular carcinoma as a rare cause of excessive rise in alpha-fetoprotein in pregnancy]. / Hepatozelluläres Karzinom als seltene Ursache einer exzessiven Erhöhung des Alpha-Fetoprotein in der Schwangerschaft.

OBJECTIVE: Elevation of alphafetoprotein in pregnancy warrants a thorough diagnostic workup. In most cases, no pathologic result in the fetus will be obtained. CASE REPORT: A case report is presented on a hepatocellular carcinoma (HCC) during pregnancy, in which a massive increase of alpha-fetoprotein (AFP) was found during a routine screening for neural tube defects in the 17th week of gestation. The amniocentesis revealed a normal AFP value in the amniotic fluid. Liver sonography in the 21st week of gestation showed a 5 cm tumor, which was interpreted as nodular focal hyperplasia. In the control sonography in the 32nd week of gestation, there was a growth to 12 cm. The subsequently performed magnetic resonance imaging (MRI) and fine needle aspiration led to the diagnosis of a HCC. Delivery was performed in the 34th week of gestation by cesarean section followed by surgical therapy of the HCC. CONCLUSIONS: Unexplained cases of alphafetoproteinelevation in pregnancy can be caused by maternal disease and should prompt a directed amnamnestic and diagnostic search for maternal causes. Nuclear magnetic resonance beyond the first trimester of gestation can help to clarify the diagnosis in liver tumors.

Acute onset of blindness during labor: report of a case of transient cortical blindness in association with HELLP syndrome.

The coincidence of HELLP syndrome and cortical blindness is an uncommon but very dramatic event, for the patient as well as the obstetrician. This report describes the first case of HELLP-syndrome-associated cortical blindness occuring suddenly in the third stage of labour. There were only modest correlates of cortical blindness in cerebral CT, MRI and angiography findings, but no signs of a posterior leucoencephalopathy syndrome. Mother and baby were discharged from hospital to outpatient care in good health on the 12th day.