Michael Entezami

Diagnostic accuracy of random massively parallel sequencing for non‐invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

The objective of this study is to validate the diagnostic accuracy of a non‐invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland.

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

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.

Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms

Here we describe the successful application of massively parallel sequencing for noninvasive prenatal detection of trisomy 21. In addition, for the detection of a broader spectrum of fetal aneuploidies, a target enrichment approach was successfully tested.

Chorioangioma--new insights into a well-known problem. I. Results of a clinical and morphological study of 136 cases.

Abstract Aims. Chorangiomas are rare hamartomatous lesions. Possible correlations between their occurrence and the progression of a pregnancy have been objects of discussions for quite some time. Methods. In a retrospective study 22439 unselected placentas were examined for incidences of chorioangiomas, morphological features and accompanying clinical characteristics. Results. Chorangiomas occur in 0,61% of pregnancies, they are mainly microscopically small, and 55% of them are localized subchorial. The rate of their occurrence rises almost linearly with maternal age; chorangiomas are found most often in women who are over 30 years old. Hypertension and diabetes are found more often in combination with chorangiomas than they are in otherwise normal pregnancies. In 72% of all cases girls were born; in 33% we also observed malfunctions in the maturation processes of the placental parenchyma, in particular arrested and delayed maturation of the villi. Premature births occur approximately three times more often in chorioangioma pregnancies than in normal ones. Chorangiomas are often found in primipara and twin pregnancies.

Feto-Feto-Fetal Triplet Transfusion Syndrome (FFFTTS)

We report a case of feto-feto-fetal-transfusion-syndrome (FFFTS) in a spontaneous monochorionic triamniotic triplet pregnancy primarily diagnosed at 17 weeks of gestation. During the course of pregnancy, sequentially two triplets appeared as donor. Symptoms of a recipient (polyhydramnios, tricuspid valve insufficiency, and ascites) were present in the third triplet. The second of the donor twins died in utero at 25 weeks. At 27 weeks, a cesarean section was performed mainly due to pre-eclampsia. The first donor triplet developed normally, whereas the recipient showed periventricular leucomalacia and neurological impairment.

Detection of Spina Bifida by First Trimester Screening - Results of the Prospective Multicenter Berlin IT-Study.

Purpose To evaluate the potential of routine assessment of intracranial translucency (IT) and other posterior brain parameters in the early detection of open spina bifida during the 11 - 14 weeks screening examination. Materials and Methods This prospective, multicenter longitudinal study was conducted with the participation of 20 certified DEGUM II or III experts in Berlin, Germany, between June 2010 and October 2013. All pregnant women undergoing a first trimester screening were included in the study and in every patient were the IT, brain stem (BS), cisterna magna (CM), BS to occipital bone distance (BSOB) and BS/BSOB ratio measured. All patients with continuing pregnancy underwent a second trimester scan. Our data was used to develop our own reference ranges. The primary outcome parameter was the presence of open spina bifida. Results A total of 15 526 women with 16 164 fetuses were examined. Median of the IT was 2.1 mm, of the CM 1.6 mm, of the BS 2.7 mm, of the BSOB 5.5 mm, and of the BS/BSOB ratio 0.49. There were 11 cases with open spina bifida (incidence of 6.8/10 000). The detection rate was 100 % and in all cases of spina bifida, the anomaly was detected either at the first examination (n = 8) or considered suspicious and the lesion then detected a few weeks later (n = 3). Considering individual measurements, however, the detection rate was 18 % with the complete absence of the IT and 45 % with cut-off values. For the CM measurement, the detection rate was 64 % with the absence of the CM and 73 % with cut-off values. The other parameters proved not to be predictive of open spina bifida. Conclusion In the hands of an expert, open spina bifida can be reliably diagnosed early in gestation during the 11 - 14 weeks screening. The measurement of different parameters of the posterior brain, especially the CM and the use of cut-off values are of tremendous benefit in achieving a high sensitivity in the detection rate.

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.

Congenital cystic adenomatoid malformation of the lung and fetal hydrops – a case with favourable outcome

We present a case of congenital cystic adenomatoid malformation of the lung (CCAM) diagnosed at 23 weeks of gestation with concomitant fetal hydrops. The sonographical picture of CCAM disappeared in the third trimester of pregnancy and fetal hydrops resolved under medication with digitalis to the mother. The neonate showed mild dyspnea; the prenatal diagnosis of CCAM was confirmed by chest X-ray and computed tomography. The affected lung segments were dissected at 5 days of age. The diagnosis of CCAM type III was confirmed histologically.

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. Copyright

Prediction of Fetal Distress and Poor Outcome in Intrauterine Growth Retardation – A Comparison of Fetal Heart Rate Monitoring Combined with Stress Tests and Doppler Ultrasound

One hundred and three intrauterine growth retardation (IUGR) pregnancies were scheduled for pulsed Doppler ultrasound of the common carotid and the umbilical artery, nonstress and contraction stress tests (NST/CST) as well as vibroacoustic stimulation tests (VAST). The last examinations < 3 days before birth were compared by receiver-operator characteristics: Results of the resistance indices of fetal common carotid/umbilical artery and NST were more predictive of later fetal distress during labour, compared to CST and VAST (p < 0.001/< 0.01). Similar results were found for the prediction of low pH and Apgar values, though differences were less pronounced. Our results suggest that stressful examinations should be abolished from mother and fetus in the supervision of IUGR.