Fetal primary hydrothorax is a rare congenital anomaly with an estimated incidence of 1:10,000-15,000 pregnancies, with an unpredictable clinical course, ranging from spontaneous resolution to fetal death. A case of unilateral fetal pleural effusion was diagnosed at 35th week of gestation during a routine ultrasonographic fetal assessment in an uncomplicated pregnancy. A large echogenic collection of fluid was revealed in the right pleural cavity, together with atelectasis of the right lung, as well as displacement of heart and mediastinal structures to the left side of thorax. The patient was also diagnosed with polyhydramnios and there was a disproportion of heart ventricles volume. No other fetal structural abnormalities were detected and there were no symptoms of edema. Fetal biometrics was consistent with the gestational age. In echocardiography, fetal heart was structurally and functionally normal. Screening tests for congenital infections of the fetus were negative. Autoimmune fetal hydrops was excluded after laboratory tests. There was no parents\' consent for the analysis of the karyotype. The patient presented clinical symptoms and was diagnosed with Herpes simplex virus infection and was treated with oral acyclovir. Serial fetal ultrasound exams showed gradual decrease in pleural fluid volume up to complete resolution in 38th week of pregnancy. Pregnancy was ended in the 38th week of gestation with a cesarean delivery of a healthy neonate. It is yet to be determined if there is a direct association between Herpes simplex virus infection in pregnancy and the risk of fetal pleural effusion. The incidence of fetal pleural effusion is low and the neonatal outcome difficult to be predicted. The optimum management of fetal pleural effusion should be subject to further studies to determine the best clinical practice.

Fetal Wilms tumor (WT) is extremely rare, but with advances in fetal imaging, more cases are being reported. The management of these cases remains challenging. Herein, we present the case of a full-term female infant diagnosed antenatally at 32 weeks of gestation with a right solid renal mass detected on routine prenatal ultrasound without polyhydramnios. At birth, the infant was healthy, with no evidence of dysmorphic features or abnormal laboratory tests to suggest a predisposition syndrome. Her family history was also unremarkable. A successful radical right nephrectomy was performed on day 2 of life revealing a classic WT. She received vincristine as adjuvant chemotherapy without any complications. At the age of 1 month, the infant developed isolated lateralized overgrowth of the right lower limb suspicious of Beckwith-Wiedemann syndrome. At the latest follow-up of 4 years, the child is healthy and disease-free with conserved asymmetry of lower limbs. The case provides insights into the challenging diagnosis and treatment of fetal WT. A review of the literature suggests that the presence of polyhydramnios is a worse prognostic factor while the combination of best supportive care and surgery remains the best management. Fetal WT can be associated with predisposition syndromes; however, their first manifestations can develop after the diagnosis of cancer has been made, as in our patient. We propose starting active surveillance programs and genetic testing for any case of fetal WT.

Although the assessment of the amniotic fluid volume in pregnancy is part of the fetal wellbeing surveillance, the impact of idiopathic polyhydramnios (IP) on maternal and perinatal outcomes in unknown. The aim of this meta-analysis was to investigate the association of IP with different maternal and perinatal outcomes. We screened five electronic databases until December 2023 and performed data extraction and quality assessment using ROBINS-E in duplicates. Pooled risk ratios and 95% confidence intervals (95% CI) were calculated with a random effects model. 38 studies were included. Patients with IP were at increased risk of perinatal complications including preterm delivery (RR 1.96, 95% CI 1.35-2.86; I2 = 92%), placental abruption (RR 3.20, 95% CI 2.20-4.65; I2 = 2%), delivery via caesarean section (RR 1.60, 95% CI 1.39-1.84; I2 = 95%) and postpartum haemorrhage (RR 1.98, 95% CI 1.22-3.22; I2 = 84%). Similarly, IP was associated with increased risk of adverse perinatal outcomes including low APGAR score (RR 3.0, 95% CI 1.23-7.35; I2 = 95%), stillbirth (RR 4.75, 95% CI 2.54-8.86; I2 = 9%) and perinatal mortality (RR 4.75, 95% CI 2.67-8.48; I2 = 37%). This meta-analysis suggests that pregnant women with IP may be at increased risk of perinatal complications and adverse neonatal outcomes. However, data remains inconclusive considering the low quality and high heterogeneity of included studies.PROSPERO registration number: CRD42022359944.

Choanal atresia occurs in about 1 in 5000 births and is associated with other structural and genetic abnormalities. Choanal atresia is usually diagnosed postnatally due to respiratory distress, and rarely diagnosed antenatally. Here, a woman with severe polyhydramnios is described, whose fetus was diagnosed antenatally with isolated bilateral choanal atresia, as evident by persistent absence of flow through the nostrils on ultrasound. A literature review is presented of the antenatal findings of choanal atresia, using ultrasound and other imaging modalities. An association of choanal atresia with polyhydramnios should be considered. Examining flow through the fetal nose, using color Doppler, might aid in diagnosing choanal atresia. If this condition is suspected, a detailed ultrasound scan should be done to rule out other anomalies. Fetal magnetic resonance imaging has been suggested as an additional imaging tool in selected patients. Genetic counselling and invasive prenatal testing should be offered.

An abnormal rise in the amount of amniotic fluid is a frequent prenatal observation called polyhydramnios, which can indicate a number of underlying problems. Even while it frequently goes undiagnosed during pregnancy, it may be linked to dangerous fetal illnesses. In three cases of newborns with congenital hypotonia, polyhydramnios was the sole prenatal symptom reported in this study. This fact highlights the significance of understanding the possible connection between genetic abnormalities or neurological problems and polyhydramnios, underscoring the responsibility obstetricians have in educating expectant mothers who are at potential risk for these uncommon but serious illnesses. Whole-genome sequencing (WES), an advanced kind of prenatal testing, is essential for determining genetic reasons and assisting families in making decisions. Working together with specialists in fetal medicine is crucial in guaranteeing the best possible treatment and results for the mother and child.

A new form of transient antenatal Bartter syndrome (aBS) was recently identified that is associated with the X-linked MAGED2 variant. Case reports demonstrate that this variant leads to severe polyhydramnios that may result in preterm birth or pregnancy loss. There is limited but promising evidence that amnioreductions may improve fetal outcomes in this rare condition. We report a woman with two affected pregnancies. In the first pregnancy, the patient was diagnosed with mild-to-moderate polyhydramnios in the second trimester that ultimately resulted in preterm labor and delivery at 25 weeks with fetal demise. Whole exome sequencing of the amniotic fluid sample resulted after the pregnancy loss and revealed a c.1337G>A MAGED2 variant that was considered diagnostically. The subsequent pregnancy was confirmed by chorionic villi sampling to also be affected by this variant. The pregnancy was managed with frequent ultrasounds and three amnioreductions that resulted in spontaneous vaginal delivery at 37 weeks and 6 days of a viable newborn with no evidence of overt electrolyte abnormalities suggesting complete resolution. A detailed review of the published cases of MAGED2-related transient aBS is provided. Our review focuses on individuals who received antenatal treatment. A total of 31 unique cases of MAGED2-related transient aBS were compiled. Amnioreduction was performed in 23 cases and in 18 cases no amnioreduction was performed. The average gestational age at delivery was significantly lower in cases without serial amnioreduction (28.7 vs. 30.71 weeks, p = 0.03). Neonatal mortality was seen in 5/18 cases without serial amnioreduction, and no mortality was observed in the cases with serial amnioreduction. In cases of second trimester severe polyhydramnios without identifiable cause, whole exome sequencing should be considered. Intensive ultrasound surveillance and serial amnioreduction is recommended for the management of MAGED2-related transient aBS.

UNASSIGNED: To analyse amniotic fluid volume (AFV), specifically oligohydramnios or polyhydramnios, and associated pregnancy and neonatal outcomes in twin gestations through systematic review and meta-analysis.
UNASSIGNED: We utilised systematic review methodology to identify items within published and grey literature resources. Prospective and retrospective studies with a control group were included. Inclusion criteria were as follows: studies in English, twin pregnancy in which AFVs and associated pregnancy and/or neonatal outcomes were evaluated. Exclusion criteria included the presence of an anomalous fetus, chromosome abnormality, monochorionic diamniotic twin pregnancy complicated by twin-twin transfusion syndrome or twin-reversed arterial perfusion, twin gestations undergoing therapeutic interventions (i.e. fetoscopic laser photocoagulation and serial amniocentesis) and monochorionic monoamniotic twin pregnancy.
UNASSIGNED: The literature search identified 1068 abstracts, only four met criteria for inclusion and analysis. The pooled data (two studies per outcome) revealed no significant difference in rate of pre-term delivery (OR: 2.94; CI: 0.20-43.81), pre-term delivery less than 32 weeks (OR: 1.97; CI: 0.43-9.12), umbilical cord pH < 7 (OR: 2.66; CI: 0.22-32.51), rate of stillbirth (OR: 4.13; CI: 0.40-42.70), neonatal death (OR: 1.48; CI: 0.05-43.94), rate of NICU admission (OR: 1.38; CI: 0.61-3.11) or rate of small-for-gestational-age (SGA) infants (OR: 1.39; CI: 0.33-5.94).
UNASSIGNED: Based on the pooled data (two studies per outcome), there was no difference in the fate of pre-term delivery, umbilical cord pH < 7, stillbirth, neonatal death or SGA infants. What is disturbing is the lack of studies (1946-2020) that analysed the association between AFV and pregnancy outcomes in twin pregnancies.

Polyhydramnios can be caused by genetic defects at times. However, to establish an accurate diagnosis and provide a precise prenatal consultation in a given case is still a great challenge toward obstetricians. To uncover the genetic cause of polyhydramnios in the two consecutive pregnancies, we performed whole-exome sequencing of DNA for the second suffering fetuses, their parents, and targeted sanger sequencing of other members of this family. We discovered a hemizygous truncating variant in MTM1 gene, c.438_439 del (p. H146Q fs*10) in this Chinese family. In the light of the molecular discoveries, the fetus\'s clinical phenotype was considered to be a good fit for X-linked myotubular myopathy (XLMTM). There is no related research to the prenatal manifestations of MTM1-related XLMTM among Chinese population, and this is the first one to present. Though the etiology of polyhydramnios is complicated, WES may provide us with a creative avenue in prenatal diagnosis.

UNASSIGNED: Congenital pulmonary airway malformations (CPAMs) are rare sporadic lesions frequently associated with poor fetal prognosis. Type 3 CPAMs are characterized by small hyperechogenic cysts (<5 mm). Hydrops often develops secondarily, and the fetal survival rate is approximately 5% in this setting.
UNASSIGNED: We present a case of a large type 3 CPAM complicated by fetal hydrops. The lesion was detected at 19 gestational weeks (GW) and confirmed by fetal MRI at 29 GW. At 22 GW, a course of maternal steroids was given as a possible treatment of type 3 CPAM. Peritoneal-amniotic shunt was placed twice to reduce fetal ascites, with unsatisfactory results. Similarly, polyhydramnios was relieved by two amnioreductions, but redeveloped soon after. A baby girl was delivered spontaneously at 33 GW and received a two-stage partial lobectomy in the first three months of life. Desaturations necessitated challenging invasive oscillatory ventilation between stages. Her outcome is unexpectedly positive and she may expect a good quality of life. She now approaches one year of age, with near-to-normal growth and developmental milestones.
UNASSIGNED: Type 3 CPAMs complicated by fetal hydrops are associated with high perinatal mortality. While open fetal surgery remains a viable option in select specialist centers, antenatal interventions are typically ineffective. The survival of this infant can be attributed to prenatal management and early postnatal surgical intervention. The lack of guidelines for ventilation in this setting was a significant challenge for neonatal intensivists. Multidisciplinary vigilance and collaboration with frequent specialist follow ups were the key to success for both mother and child.

Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding glycine cleavage enzyme system. We report an 8-year-old boy with late-onset glycine encephalopathy who harbors a novel homozygous GLDC likely pathogenic variant c.707G > A p.(Arg236Gln). Polyhydramnios was noted at fetal ultrasound. He displayed global developmental delay, craniofacial dysmorphism, convulsions. Our report expands the phenotypic and genetic spectrum of late-onset nonketotic hyperglycinemia.