Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Hydrops fetalis is a rare disorder associated with significant perinatal complications and a high perinatal mortality of at least 50%. Nonimmune hydrops fetalis (NIHF) is more frequent and results from a wide variety of etiologies. One cause of NIHF is lymphatic malformation 6 (LMPHM6) due to biallelic loss-of-function (LoF) variants in PIEZO1. Most individuals are diagnosed postnatally and only few clinical data are available on fetal presentations. We report six novel biallelic predicted LoF variants in PIEZO1 identified by exome sequencing in six fetuses and one deceased neonate from four unrelated families affected with LMPHM6. During the pregnancy, most cases are revealed by isolated NIHF at second trimester of gestation. At post-mortem examination ascites, pleural effusions and telengectasies can guide the etiological diagnosis. We aim to further describe the perinatal presentation of this condition which could be underdiagnosed.

Cardiac rhabdomyoma with hydrops fetalis: Prenatal management by abdominal drainage.

OBJECTIVE: We described a case of fetal cardiac rhabdomyoma complicated by hydrops. And we discussed our approach during pregnancy. CASE REPORT: A 23-year-old woman primigravida was referred at 29 weeks of gestation (WG) to prenatal unit for a large hyperechogenic intracardiac mass associated with fetal hydrops. An intrauterine peritoneo-amniotic shunt was placed. Complete regression of ascites and pericardial effusions were observed after 34 WG with drain in good position. CONCLUSION: Cardiac rhabdomyoma is the most common prenatal cardiac tumor. These tumors are benign, asymptomatic and spontaneously regress after birth. However, in some cases, these tumors may cause severe obstructions on the fetal heart and need specific treatment.

Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease.

Although a rare disease, bilateral congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage kidney disease in children. Ultrasound-based prenatal prediction of postnatal kidney survival in CAKUT pregnancies is far from accurate. To improve prediction, we conducted a prospective multicenter peptidome analysis of amniotic fluid spanning 140 evaluable fetuses with CAKUT. We identified a signature of 98 endogenous amniotic fluid peptides, mainly composed of fragments from extracellular matrix proteins and from the actin binding protein thymosin-ß4. The peptide signature predicted postnatal kidney outcome with an area under the curve of 0.96 in the holdout validation set of patients with CAKUT with definite endpoint data. Additionally, this peptide signature was validated in a geographically independent sub-cohort of 12 patients (area under the curve 1.00) and displayed high specificity in non-CAKUT pregnancies (82 and 94% in 22 healthy fetuses and in 47 fetuses with congenital cytomegalovirus infection respectively). Change in amniotic fluid thymosin-ß4 abundance was confirmed with ELISA. Knockout of thymosin-ß4 in zebrafish altered proximal and distal tubule pronephros growth suggesting a possible role of thymosin ß4 in fetal kidney development. Thus, recognition of the 98-peptide signature in amniotic fluid during diagnostic workup of prenatally detected fetuses with CAKUT can provide a long-sought evidence base for accurate management of the CAKUT disorder that is currently unavailable.

A Pilot Study Comparing 2- and 3-dimensional Ultrasound Imaging for Confirmation of Essure Fallopian Tube Pregnancy Prevention Implants.

STUDY OBJECTIVE: To show the feasibility of 2-dimensional (2D) ultrasound (US) imaging compared with 3-dimensional (3D) US to identify the location of implants and assess if the classification developed by Simorre et al in 2016 was applicable to the 2 types of US imaging (i.e., 2D and 3D). DESIGN: A prospective study (Canadian Task Force classification II-2). SETTING: The department of obstetrics and gynecology in a teaching hospital. PATIENTS: One hundred fifty patients who had undergone hysteroscopic sterilization with Essure (Bayer Pharma AG Laboratory, Lyon, France) fallopian tube pregnancy prevention implants were invited by letter to participate in the study; 50 replied positively between January and August 2017. INTERVENTIONS: An initial 2D US was performed followed by 3D US reconstruction. The primary end point was to compare the identification of device placement with 2D and 3D US imaging procedures according to this new classification. Secondary considerations were to evaluate the difficulty of attaining images, the quality of implant curvature, the duration of each imaging procedure, and the number of images performed for each technique. MEASUREMENTS AND MAIN RESULTS: Ninety-six percent of tubal implants were observed via 3D US compared with 100% via 2D US. The mean time of 2D US was 14.64 seconds for the right fallopian tube and 15.25 seconds for the left fallopian tube compared with 25.11 seconds for the right and 31.57 seconds for the left fallopian tube in 3D US (p <.01). The mean number of image acquisitions per patient was 1.02 (±0.14 standard deviation) for 2D US compared with 1.37 (±0.64 standard deviation) for 3D US (p <.01). The sonographer had no difficulty performing 2D US in 88% of cases compared with 58% of 3D US cases. CONCLUSIONS: Two-dimensional ultrasound appears to be an acceptable alternative to 3D US. We propose a 2D classification for cross section device localization to facilitate image interpretation.

Monozygotic triplet pregnancies after single blastocyst transfer: two cases and literature review.

Following IVF, single blastocyst transfer has been thought to reduce the risks of high-order multiple pregnancies. This is a report of two cases of monozygotic triplet pregnancies after single blastocyst transfer and a review of the current concepts of the pathogenesis of multiple monozygotic pregnancies as well as the options for managing these high-risk pregnancies. Both cases were reduced to a twin pregnancy by selective cord coagulation at 15-16 weeks. Whereas one patient had uneventful pregnancy until labour was induced for growth arrest and cord Doppler abnormalities in one twin, the other developed a severe twin-to-twin transfusion syndrome which required fetoscopic laser surgery at 21 weeks. In both cases, healthy twins were delivered by Caesarean section at 34.5 and 34 weeks, respectively. As the predictors of their occurrence are not fully understood, patients should be informed of the risks of monozygotic pregnancies after single blastocyst transfer.

Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome.

This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization.