[Antenatal ear examination: When, how and why?] / L'examen des oreilles en anténatal : quand, comment et pourquoi ?

Antenatal ear examination is an integral part of the thorough examination of the fetal face. The discovery of an anomaly, whether it is made by chance or during a complementary in-depth examination, leads the practitioner to determine its isolated or associated character, in order to characterise its possible belonging to a syndromic entity. In this context, the realization of genetic analysis more precise and wider allowing a return of the results in a time compatible with an evolutive pregnancy, gives to the geneticist a central role in the management of these couples. The main challenge lies in obtaining a set of concordant clinical and biological clues, enabling the genetic results identified to be interpreted correctly, the optimised functioning of the ultrasound practitioner - geneticist duo is therefore fundamental. This results in a complex information to deliver, in the fact that the clinical translation of an ear anomaly in antenatal can go from an isolated aesthetic anomaly to a genetic syndrome with neurodevelopmental disorder. The objective of this work is to describe, from a methodological analysis of antenatal ears, the accessible malformative entities, isolated or associated, and to discuss the problems in the need or not to propose their screening.

Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis.

BACKGROUND: The significant number of qualitative and quantitative ultrasound markers described for first-trimester screening of open spina bifida (OSB) and other posterior brain defects (oPBD) has resulted in their complex implementation and interpretation for a widespread screening and in a lack of consensus regarding diagnostic accuracy. OBJECTIVES: To assess and compare the accuracy of qualitative and quantitative cranial sonographic markers at 11-14 weeks of gestation for the detection of OSB and oPBD. SEARCH STRATEGY: A systematic literature search was performed in MEDLINE and COCHRANE from 2009 to April 2020. SELECTION CRITERIA: Studies assessing the diagnostic accuracy of quantitative and/or qualitative ultrasound signs to predict OSB and oPBD were included. Cohort studies and case-control studies were also considered. DATA COLLECTION AND ANALYSIS: Two reviewers independently extracted data and assessed the risk of bias. The overall pooled estimate and a summary receiver operating characteristic curve was estimated for each subgroup (qualitative and quantitative assessment). MAIN RESULTS: Twenty-three studies were included in our meta-analysis. The pooled sensitivity and specificity for qualitative assessment were 76.5% and 99.6%, and for quantitative assessment were 84.5% and 96.3%, respectively; specificity for the qualitative ultrasound signs was significantly higher (P = 0.001). The overall sensitivity of cranial sonographic markers for the screening of oPBD was 76.7% and specificity was 97.5%. CONCLUSIONS: The qualitative approach demonstrated greater specificity, so this would appear to be more appropriate for daily screening, as a first-line tool, whereas the quantitative approach should be reserved for expert ultrasound. TWEETABLE ABSTRACT: This study highlights the relevance of first-trimester qualitative ultrasound signs in the screening of open spina bifida.

[Ultrasound of the fetal urinary system during the first trimester of pregnancy]. / Échographie de l'appareil urinaire fœtal au 1er trimestre de la grossesse.

The detection of abnormalities of the fetal urinary system in the first trimester of pregnancy is constantly improving, namely owing to the improved resolution of the image, the use of the endovaginal approach and thanks to sonographers' constant training. The pathological aspects, usually detected in the second trimester of pregnancy, can be suspected early in the first trimester and range from kidneys' cavity dilation to bilateral renal agenesis, polycystic kidney disease, multi-cystic dysplasia and bladder megavessia or bladder exstrophy. A poly-malformative syndrome is to be found out. The detection of an abnormality of the urinary tract requires a close ultrasound check. Very often, the pathological aspects tend to disappear spontaneously. In particular, the non-visualization of the bladder requires repeated examinations during the same session or even a little later in the pregnancy. We will carry out a review of the literature by pointing out the usual and unusual aspects of the fetal urinary system visible in the first trimester and we will as well propose an algorithm describing how to deal with abnormalities of the urinary tract that can be found out at first trimester ultrasound.

[Analysis of fetal posterior fossa during the first trimester ultrasound scan]. / Analyse de la fosse postérieure fœtale lors de l'échographie du premier trimestre de la grossesse.

The diagnosis of an abnormal fetal posterior fossa is usually done during the second trimester scan. However, some forms of open spina bifida with Arnold-Chiari malformation can be detected from the first trimester ultrasound with a precise examination of the posterior fossa and intracranial translucency. Furthermore, other abnormalities of the posterior fossa such as cystic malformations also seem to be accessible to early detection. This work detailed the possible usual and unusual aspects of the posterior fossa individualized during the first trimester ultrasound scan. Identifying an unusual appearance may identify high-risk fetus to present an abnormality of the posterior fossa. Then, thorough analysis of the fetal brain from 18 weeks will often differentiate a normal variant of a real brain malformation.

Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis.

In order to illustrate the significance of a new anatomical finding, distortion of the interhemispheric fissure (DIHF) associated with impacted medial borders of the frontal lobes, we report a retrospective observational study of 13 fetuses in which DIHF was identified on prenatal imaging. In 10 cases there were associated anatomical anomalies, including mainly midline anomalies (syntelencephaly (n=2), lobar holoprosencephaly (n=1), Aicardi syndrome (n=2)), but also schizencephaly (n=1), cortical dysplasia (n=1) and more complex cerebral malformations (n=3), including neural tube defect in two cases. Chromosomal anomaly was identified in two cases, including 6p deletion in a case without associated central nervous system anomalies and a complex mosaicism in one of the cases with syntelencephaly. In two cases, the finding was apparently isolated on both pre- and postnatal imaging, and the children were doing well at follow-up, aged 4 and 5 years. The presence of DIHF on prenatal imaging may help in the diagnosis of cerebral anomalies, especially those involving the midline. If DIHF is apparently isolated on prenatal ultrasound, magnetic resonance imaging is recommended for careful analysis of gyration and midline, especially optic and olfactory structures. Karyotyping is also recommended.

Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.

Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal.

Multivariate analysis identifies the estradiol level at ovulation triggering as an independent predictor of the first trimester pregnancy-associated plasma protein-A level in IVF/ICSI pregnancies.

STUDY QUESTION: Can independent predictors of pregnancy-associated plasma protein-A (PAPP-A) levels be identified in a group of women who conceived following IVF/ICSI? SUMMARY ANSWER: The significantly decreased PAPP-A level in IVF and ICSI pregnancies compared with non-IVF/ICSI pregnancies was correlated strongly with the serum estradiol (E2) level at ovulation triggering. WHAT IS KNOWN ALREADY: The first trimester prenatal combined screening test for fetal aneuploidies in pregnancies conceived following assisted reproduction techniques (ART) is complicated by an alteration of the maternal biomarkers free ß-hCG and PAPP-A, causing a higher false-positive rate compared with pregnancies which are conceived naturally. The use of controlled ovarian stimulation prior to IVF/ICSI is suggested to be the principle reason for these alterations of biomarkers in ART pregnancies. STUDY DESIGN, SIZE, DURATION: Between January 2010 and December 2011, 1474 women who conceived naturally and 374 women who conceived following IVF (n = 89), ICSI (n = 204) or intrauterine insemination (IUI, n = 81) were included in this retrospective study. Only singleton pregnancies were eligible for this study. For all women, serum analysis was performed in the same clinical laboratory. Measurement of nuchal translucency (NT) thickness was performed by four physicians belonging to the same infertility centre. PARTICIPANTS/MATERIALS, SETTING, METHODS: First-trimester combined screening test of aneuploidy parameters (maternal age, PAPP-A and free ß-hCG, NT thickness) were compared between non-ART and ART (IVF, ICSI and IUI) singleton pregnancies. Next, a minimal threshold E2 level at ovulation triggering was suggested for IVF/ICSI pregnancies above which the PAPP-A levels were significantly decreased compared with non-ART pregnancies. Finally, a multivariate analysis was performed to reveal independent predictors of PAPP-A level in IVF/ICSI pregnancies. MAIN RESULTS AND THE ROLE OF CHANCE: We showed a decrease of the multiple of the median (MoM) PAPP-A level in IVF and ICSI singleton pregnancies compared with non-ART singleton pregnancies (P < 0.001), with MoM values of 0.74 (0.16-3.16) and 0.81 (0.12-4.61) versus 0.98 (0.14-5.76), respectively. Analysis of variance of the overall model was highly significant (Fisher test 3.76, P = 0.01), indicating that the model explains a significant portion of the variation in the data. No difference in PAPP-A level was found between non-ART and IUI pregnancies. The free ß-hCG level and NT thickness did not differ between ART and non-ART pregnancies. PAPP-A levels in IVF and ICSI pregnancies were strongly correlated with the E2 level at ovulation triggering. We showed by multivariate analysis that an E2 cut-off level of 1300 pg/ml at the time of ovulation could predict a significantly lower PAPP-A level at first trimester combined screening (ß -0.239 ± 0.088, P < 0.005). LIMITATION, REASONS FOR CAUTION: The measures of biochemical markers can differ between laboratories and with the used equipment; therefore, extrapolation of the E2 cut-off level to other infertility centres should be undertaken with caution. WIDER IMPLICATIONS OF THE FINDINGS: One should be careful when using correction factors for ART patients undergoing the first trimester combined screening test. The proposed E2 cut-off level may help to identify a subgroup of women within the population of ART patients for whom use of a correction factor is justified. STUDY FUNDING/COMPETING INTEREST(S): None.

[Prenatal diagnosis of aorta coarctations]. / Diagnostic prénatal des coarctations de l'aorte.

Coarctations of the aorta can be associated with severe neonatal consequences. Screening for and diagnosis of this prenatal malformation remain difficult. We review the various tools currently available to us, and their respective limits, to minimize the rate of false negatives and false positives associated with prenatal screening for this situation.

[Management of fetal mediastinal shift: a practical approach]. / Conduite à tenir devant une déviation médiastinale fœtale: une approche pratique.

The purpose of this article is to review the technique of fetal chest ultrasound screening evaluation, the diagnostic work-up in the presence of fetal mediastinal shift and which ultrasound imaging features to look for. The first step in evaluating the fetal thorax is to confirm situs. Then, a median sagittal line is drawn from a four-chamber view to assist in spatial orientation followed by echotexture analysis of the structures of the thorax in the presence of mediastinal shift. We propose a systematic approach based on the direction of the mediastinal shift and echogenicity of the compressing hemithorax. When the hemithorax contralateral to the mediastinal shift is enlarged, which is the most frequent situation, diaphragmatic hernia and macrocystic congenital cystic adenomatoid malformation are the most likely etiologies when the mass is heterogeneous. Microcystic congenital cystic adenomatoid malformation, sometimes associated with sequestration, is the most frequent etiology when the mass is homogeneous. When the hemithorax ipsilateral to the mediastinal shift is small, which is less frequent, and the contralateral hemithorax is homogeneously isoechoic, then a diagnosis of lung hypoplasia-agenesis-aplasia should be considered.

Partial chromosome deletion: a new trisomy rescue mechanism?

OBJECTIVE: We described a first case of a fetus with multiple congenital malformations associated with full trisomy 5 on direct CVS analysis and a partial trisomy 5 after cell culture. METHODS: CVS karyotype (direct examination and culture) was performed after ultrasound examination and genetic counseling. RESULTS: Direct CVS preparation showed a female karyotype with a homogeneous entire chromosome 5 trisomy, and karyotype of cultured CVS showed partial chromosome 5 trisomy, with an extra chromosome resulting from a deleted chromosome 5: 47,XX,del(5q31),+5. Only macroscopic examination could be performed because parents decided against postmortem examination and further analysis. CONCLUSION: After a brief literature review, we argue that all de novo large chromosome deletions need to be considered as potentially associated with a trisomy rescue and uniparental disomy.

Outcome of anaemic monochorionic single survivors following early intrauterine rescue transfusion in cases of feto-fetal transfusion syndrome.

OBJECTIVE: To evaluate the outcome of severely anaemic monochorionic (MC) twins surviving the death of their co-twin following early intrauterine rescue transfusion in cases of feto-fetal transfusion syndrome (FFTS). STUDY DESIGN: We reviewed all MC pregnancies complicated with FFTS following primary management, in which a single intrauterine fetal death (IUFD) was diagnosed with certainty within 24 hours between January 1999 and December 2006. We included MC survivors who presented ultrasound or Doppler features of fetal anaemia following the death of their co-twin. Intrauterine transfusion (IUT) was given to all survivors who were anaemic. RESULTS: Nineteen MC twin pregnancies presented a single intrauterine death (IUD) associated with an anaemic co-twin. Median gestational age at IUD was 23 [20-28] weeks. The median interval between IUD and IUT was 12 [8-24] hours. There were 58% (11/19) healthy survivors. Perinatal death rate was 26% (5/19) including 16% (3/19) intrauterine and 10% (2/19) neonatal deaths. Abnormal prenatal cerebral findings developed in 21% (4/19) cases, always within 1 month after the death of the co-twin. Considering occlusive techniques and other management separately, there were 64% (7/11) and 50% (4/8) healthy survivors, respectively, and perinatal death occurred in 36% (4/11) and 12.5% (1/8) of fetuses, respectively. Prenatal fetal cerebral lesions developed in 9% (1/11) of cases following occlusive techniques and in 37.5% (3/8) of fetuses when managed differently. The median gestational age at delivery in the survivors was 31 [25-38] weeks. CONCLUSION: In cases of FFTS with single anaemic survivors, early IUT could be offered following extensive counselling and close follow up.

Twins discordant for fetal skeletal abnormalities: a natural confrontation between the two siblings.

BACKGROUND: Skeletal abnormalities encompass a heterogeneous group of disorders characterized by anomalies of cartilage as well as bone growth and development. Some are lethal and express early during fetal life, making them amenable to prenatal diagnosis. The increasing use of routine ultrasonography (US) during pregnancy permits a reliable primary evaluation of the fetal skeleton. However, when a skeletal dysplasia is suspected, it is more difficult to establish a specific diagnosis. Moreover, detailed ultrasonographic evaluation of the whole fetal skeleton may be limited in some circumstances, especially during the third trimester due to the fetal position and in the case of multiple pregnancies. METHODS: Retrospective study of twin pregnancies complicated with skeletal abnormalities. RESULTS: 6 twin pregnancies were reviewed. The prenatal diagnosis was correctly made in 66.66% (4/6) with the primary use of combined 2D and 3D-US. 3D-HCT permits to improve the simultaneous assessment of both fetuses, and is of greater value than US in 16.66% (1/6). CONCLUSION: The combined use of 2D or 3D-US with 3D-HCT permits the best imaging evaluation.

Management of fetofetal transfusion syndrome.

Feto-fetal transfusion syndrome contributes heavily to high rates of perinatal mortality and morbidity in monochorionic multiple pregnancies. Its prenatal management has been controversial for at least 25 years. We review the recent literature in order to present the basis for a pragmatic reappraisal of the management of this condition. Laser surgery of the chorionic plate inter-twin anastomoses is the best first-line treatment when the syndrome develops before 26 weeks' gestation. Survival (including quality of survival) and gestational age at delivery are improved when compared to serial amnioreduction. Second-line treatment options include repeat-laser, intra-uterine blood transfusion, serial amnioreduction, selective feticide using bipolar cord coagulation or elective delivery, depending upon gestational age and the severity of the disease and its complications. We have found that fetoscopic placental surgery has proven itself over simplicity of amnioreduction. There is no evidence that treatment should be customized according to the stage of the disease at diagnosis. Early recognition of the syndrome through fortnightly serial ultrasound follow-up of all monochorionic pregnancies should ensure timely referral and make up for geographical constraints. Laser surgery should now be available in fetal medicine units that are managing at least 20 cases per year.

Prenatal laser treatment of a placental chorioangioma.

Large placental chorioangiomas are rare complications in pregnancy. We present a case of a placental chorioangioma, complicated by polyhydramnios, in which obliteration of its blood supply using diode laser coagulation at 25 weeks of gestation was followed by an uneventful pregnancy and delivery of a healthy baby with a normal follow-up at the age of 9 months. Laser coagulation of the feeding vessels seems to be an effective treatment for chorioangiomas when the blood supply is superficial and the feeding vessels are small in diameter.