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Introduction: Placental chorioangioma is a benign placenta tumour. Majority of cases, the placental chorioangioma are small and no maternal and fetal complications. We highlight a case diagnosed with large placental chorioangioma with an intrapartum event associated with significant maternal and perinatal morbidity., Method: A 38-year-old woman, Gravida 3 Para 1, with one previous miscarriage, presented with preterm labour at 33 weeks gestation. Antenatally, she was referred to a feto-maternal specialist for finding a placental tumour size 12 × 10 cm. Features are consistent with placental chorioangioma with polyhydramnios. The anomaly scan was normal. Antenatal fetal surveillance with Doppler studies were normal., Results: During this admission, corticosteroid was given together with a tocolytic agent and opioid analgesia. Unfortunately, the labour progressed, and the patient felt reduced in fetal movement. The cardiotograph showed suspicious tracing. We proceed with emergency caesarean delivery. The placenta was sent for histopathology assessment which confirmed a large placental chorioangioma. The baby was born with Apgar's score of 9 at 1 min, pH of 7.28 and lactate of 7.28 with anaemia and thrombocytopenia. The uterus developed intermittent uterine atony, and the uterotonic agent was given. She recovered well post-delivery. The baby was admitted to the neonatal intensive care unit (NICU) and received a blood product transfusion and discharged from NICU on day 15 of life., Discussion: Large placental chorioangioma is associated with polyhydramnios, preterm labour, postpartum haemorrhage, fetal anaemia, fetal distress, fetal hydrops and possible perinatal death. Multidisciplinary team involvement with feto-maternal specialists, anaesthetic and neonatologists would improve the outcome of both mother and fetus., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Objectives: Prior studies show conflicting evidence as to whether obesity in the absence of other medical or pregnancy-related conditions contributes to amniotic fluid disorders. The purpose of this study is to determine the association between late-pregnancy obesity with oligohydramnios (amniotic fluid index [AFI] ≤5 cm or maximum vertical pocket [MVP] <2 cm) and/or polyhydramnios (AFI ≥24 cm or MVP ≥8 cm)., Methods: This is a retrospective cohort study of 961 women with singleton gestations who had one or more obstetrical ultrasounds at a single institution at 36 0/7 weeks gestation or beyond between August 1, 2015, and May 1, 2020. Patients were included if they had valid pregnancy dating and a documented AFI and/or MVP. Patients were categorized based on body mass index or BMI (eg, normal, overweight, Class I Obesity, Class II Obesity, or Class III Obesity)., Results: A total of 6.2% of patients met criteria for oligohydramnios based on AFI, MVP or both (n = 60). There was no significant association between oligohydramnios and increasing BMI, regardless of obesity class (P = .21). In terms of polyhydramnios, 5.6% of patients met criteria based on AFI, MVP, or both (n = 54). Similarly, there was also no significant association between polyhydramnios and increasing BMI, regardless of obesity class (P = .66)., Conclusions: Elevated maternal BMI was not significantly associated with disorders of amniotic fluid, regardless of the severity of obesity., (© 2024 American Institute of Ultrasound in Medicine.)

Objective: The objective of our study was to investigate the effect of impaired glucose metabolism (IGM) and ultrasound (US) findings consistent with hyperglycemia on maternal and neonatal outcomes., Study Design: This was a retrospective case-control study of singleton, nonanomalous pregnancies with an elevated 1-hour glucose screening test (GST) completed after 23 weeks of gestation. IGM was defined as a 1-hour GST of >130, but less than two abnormal values on 3-hour glucose tolerance test (GTT). Gestational diabetes was defined as two or more abnormal values on 3-hour GTT. Ultrasound evidence of hyperglycemia was defined as abdominal circumference >95th centile and/or polyhydramnios. Individuals with IGM were divided into those with ultrasound evidence of hyperglycemia (impaired glucose metabolism consistent with ultrasound findings [IGM-US]) and those without IGM. Maternal demographics, delivery outcomes (gestational age at delivery, delivery mode, shoulder dystocia, lacerations), postpartum hemorrhage, and neonatal outcome (birth weight centile [BW%], neonatal intensive care unit admission, hypoglycemia, and glucose) were recorded. Composite morbidity was tabulated. Delivery and neonatal outcome variables were compared in individuals with IGM-US, IGM, and gestational diabetes mellitus (GDM). Odds ratios were calculated and adjusted for maternal age, BMI, and gestational weight gain., Results: A total of 637 individuals with an abnormal 1-hour GST were included (122 with IGM-US, 280 with IGM, and 235 with GDM). When compared to the IGM group, IGM-US had higher rates of cesarean delivery and BW% > 90th centile at delivery (adjusted odds ratio [aOR]: 1.7 [1.1-2.8] and aOR: 5.9 [2.7-13.0], respectively). Individuals with GDM also demonstrated similar rates with BW% > 90% but not cesarean section(aOR: 3.9 [1.8-8.5] and aOR: 1.4 [0.9-2.1], respectively). The remaining maternal and fetal outcomes were similar., Conclusion: Women with impaired glucose tolerance should have a third-trimester ultrasound to identify an increased risk of perinatal complications., Key Points: · Women with elevated blood glucose screening should be evaluated with third-trimester ultrasound to identify risks for perinatal morbidity.. · The third-trimester ultrasound identifies individuals at risk for cesarean section.. · Counseling should be completed with individuals with polyhydramnios or accelerated growth.., Competing Interests: None declared., (Thieme. All rights reserved.)

Introduction: Twin-twin transfusion syndrome (TTTS) is a typical complication of monochorionic twin pregnancies (MCTP). Placental vessels that communicate in the chorionic plate between donor and recipient, are responsible for the imbalance of blood flow. Circulatory imbalance causes hypovolemia in donor and hypervolemia in recipient fetus. In a typical case, recipient fetus develops polyhydramnios, weight gain, cardiomegaly and hydrops fetalis. In contrast, donor fetus develops oligohydramnios and fetal growth restriction., Aim: The objective of this review is to evaluate in detail the main diagnostic aspects and add other important data for diagnosis of TTTS., Scientific Bases: The main diagnostic event for this condition is based on the ultrasonographic discovery of oligohydramnios-polyhydramnios sequence. Other useful elements for diagnosis, staging and prognosis are fetal urinary bladder visualization, urinary bladder volumen measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves and cardiac evaluation., Conclusion: Considerations regarding diagnosis of TTTS make it possible to emphasize that role of physicians treating patients with MCTP is to identify ultrasound sequence of oligohydramnios-polyhydramnios. Other ultrasonographic fetal data as fetal urinary bladder visualization, urinary bladder volumen measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves and cardiac evaluation; may help diagnosis, staging and prognosis of TTTS. It is their responsibility to accurately assess severity, therapeutic possibilities and prognosis., Key Points: · The role of physicians treating patients with MCTP, regarding diagnosis of TTTS, must be to identify ultrasound sequence of oligohydramnios-polyhydramnios.. · Other ultrasonographic fetal data may help diagnosis, staging, and prognosis of TTTS as follows: fetal urinary bladder visualization, urinary bladder volume measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves, and cardiac evaluation.. · It is physicians' responsibility to accurately assess severity, therapeutic possibilities, and prognosis of patients with MCTP and diagnosis of TTTS.., Competing Interests: None declared., (Thieme. All rights reserved.)

Background: We present two genetic causes of polyhydramnios that were challenging to diagnose due to their rarity and complexity. In view of the severe implications, we wish to highlight these rare genetic conditions when obstetricians consider differential diagnoses of polyhydramnios in the third trimester., Case Presentation: Patient 1 is a 34-year-old Asian woman who was diagnosed with polyhydramnios at 28 weeks' gestation. First trimester testing, fetal anomaly scan, and intrauterine infection screen were normal. Subsequent antenatal ultrasound scans revealed macroglossia, raising the suspicion for Beckwith-Wiedemann syndrome. Chromosomal microarray analysis revealed a female profile with no pathological copy number variants. The patient underwent amnioreduction twice in the pregnancy. The patient presented in preterm labor at 34 weeks' gestation but elected for an emergency caesarean section. Postnatally, the baby was noted to have a bell-shaped thorax, coat hanger ribs, hypotonia, abdominal distension, and facial dysmorphisms suggestive of Kagami-Ogata syndrome. Patient 2 is a 30-year-old Asian woman who was diagnosed with polyhydramnios at 30 weeks' gestation. She had a high-risk first trimester screen but declined invasive testing; non-invasive prenatal testing was low risk. Ultrasound examination revealed a macrosomic fetus with grade 1 echogenic bowels but no other abnormalities. Intrauterine infection screen was negative, and there was no sonographic evidence of fetal anemia. She had spontaneous rupture of membranes at 37 + 3 weeks but subsequently delivered by caesarean section in view of pathological cardiotocography. The baby was noted to have inspiratory stridor, hypotonia, low-set ears, and bilateral toe polysyndactyly. Further genetic testing revealed a female profile with a pathogenic variant of the GLI3 gene, confirming a diagnosis of Greig cephalopolysyndactyly syndrome., Conclusion: These cases illustrate the importance of considering rare genetic causes of polyhydramnios in the differential diagnosis, particularly when fetal anomalies are not apparent at the 20-week structural scan. We would like to raise awareness for these rare conditions, as a high index of suspicion enables appropriate counseling, prenatal testing, and timely referral to pediatricians and geneticists. Early identification and diagnosis allow planning of perinatal care and birth in a tertiary center managed by a multidisciplinary team., (© 2024. The Author(s).)

Objective: To analyze the risk for genetic aberrations and pregnancy outcomes in pregnancies with isolated polyhydramnios., Study Design: This was a retrospective study of singleton pregnancies complicated by isolated polyhydramnios that underwent genetic amniocentesis between 2016 and 2021. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray results, and pregnancy outcomes., Results: A total of 94 singleton pregnancies were included. Three (3.2%) cases with chromosomal abnormalities were detected, including 2 case of trisomy 21 and 1 of 22q21.1 microdeletion. One case was diagnosed as Prader-Willi syndrome caused by maternal uniparental disomy of chromosome 15. Perinatal death occurred in 1 case with severe polyhydramnios, and was retrospectively diagnosed as Bartter syndrome. Of the 90 infants survived, two were identified to have single gene disorders after birth by whole exome sequencing., Conclusion: We first attempted to determine the value of exome sequencing in pregnancies with isolated polyhydramnios. Our results warrant more studies to evaluate advanced genetic testing technologies used in such pregnancies., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

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., (© 2024 John Wiley & Sons Ltd.)

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&#95;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., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Objective: This study aimed to evaluate fetal epicardial fat thickness (EFT) along with fetal myocardial performance index (MPI) and its effects on perinatal outcomes in non-severe idiopathic polyhydramnios (IP)., Materials and Methods: This prospective study included 92 participants, 32 diagnosed with non-severe IP, and 60 healthy pregnant women. Amniotic fluid indices (AFI), umbilical and middle cerebral artery Doppler, EFT, and MPI measurements were performed for all patients., Results: The fetal EFT and MPI values were statistically higher in the non-severe IP group than in the control group (p = 0.0001, p = 0.014, respectively). The optimal fetal EFT cutoff value for predicting non-severe IP disease was found as 1.3 mm with a specificity of 81.7% and sensitivity of 59.4%. The EFT cutoff for predicting cesarean section in non-severe IP cases was 1.25 mm (p = 0.038). Apgar scores, neonatal intensive care unit, respiratory distress syndrome, and stillbirth rates were not different between groups., Conclusion: In this study, EFT and MPI were found to be higher in non-severe IP cases compared to controls. It was observed that the increase in MPI and EFT was associated with the increase in cesarean rates, but not with adverse fetal outcomes., (© 2023 Wiley Periodicals LLC.)

Objective: To analyze outcomes of singleton pregnancies with idiopathic polyhydramnios through a systematic review and meta-analysis., Methods: Electronic databases, including MEDLINE, OVID, EBSCO, Cochrane collection and Science Citation Index, were searched from 1946 to 2019. Gray literature and tables of contents of relevant journals were also screened. Prospective and retrospective studies with a control group were included. Two authors independently reviewed the abstracts retrieved from the literature search. Inclusion criteria were: studies documented in English, singleton pregnancy and idiopathic polyhydramnios determined by amniotic fluid volume assessment on ultrasound. Exclusion criteria were: maternal diabetes, fetal structural or chromosomal anomaly, alloimmunization and intrauterine fetal infection., Results: Twelve studies met the inclusion criteria, giving a total of 2392 patients with idiopathic polyhydramnios and 160 135 patients with normal amniotic fluid volume. Pregnancies complicated by idiopathic polyhydramnios were at a higher risk of neonatal death (odds ratio (OR), 8.68 (95% CI, 2.91-25.87)), intrauterine fetal demise (OR, 7.64 (95% CI, 2.50-23.38)), neonatal intensive care unit admission (OR, 1.94 (95% CI, 1.45-2.59)), 5-min Apgar score < 7 (OR, 2.21 (95% CI, 1.34-3.62)), macrosomia (OR, 2.93 (95% CI, 2.39-3.59)), malpresentation (OR, 2.73 (95% CI, 2.06-3.61)) and Cesarean delivery (OR, 2.31 (95% CI, 1.79-2.99))., Conclusions: This study suggests that pregnancies complicated by idiopathic polyhydramnios are at increased risk of adverse outcome. Future investigations should aim to determine an amniotic fluid volume threshold above which antenatal fetal surveillance is appropriate in the management of these pregnancies. © 2022 International Society of Ultrasound in Obstetrics and Gynecology., (© 2022 International Society of Ultrasound in Obstetrics and Gynecology.)

Background: Glial heterotopia is a rare congenital developmental malformation that presents as tumor-like lesions of the nerve tissue that grow outside the nervous system, but are not true tumors. At present, most cases are reported in neonates and children and are very rarely found in fetuses. The present report describes a case of fetal pharyngeal glial heterotopia and associated imaging findings to better understand the disease in the future., Case Presentation: A 32-year-old pregnant woman was admitted to the hospital with polyhydramnios. An ultrasound examination revealed a hypoechoic mass in the neck of the fetus. Magnetic resonance imaging showed a well-defined mass with significant compression of the esophagus and airway. The amniotic fluid index was approximately 40 cm. Considering that difficulty swallowing and breathing may occur due to compression by the mass after birth, tracheotomy and mass resection should be performed immediately. The difficulty of the tumor resection procedure and the nature of the tumor are both factors affecting the prognosis of the fetus. The pregnant woman eventually chose to induce labor. The fetal pharyngeal mass was then resected and its pathological examination indicated pharyngeal glial heterotopia., Conclusions: Polyhydramnios due to pharyngeal glial heterotopia is extremely rare and accurate prenatal diagnosis is challenging. Clinical diagnosis of glial heterotopia in preterm fetuses is difficult. Therefore, understanding glial heterotopia is helpful to improve clinical treatment options., (© 2023. The Author(s).)

Background: The pathogenesis of bronchopulmonary dysplasia (BPD) is multifactorial, and there are limited data about prenatal exposures and risk of BPD., Study Design: Our study performed parallel analyses using a logistic regression model in a cohort of 4527 infants with data from a curated registry and using a phenome wide association study (PheWAS) based on ICD9/10-based phecodes. We examined 20 prenatal exposures from a neonatal intensive care unit (NICU) curated registry database related to pregnancy and maternal health as well as 94 maternal diagnosis phecodes with a PheWAS analysis., Result: In both the curated registry and PheWAS analyses, polyhydramnios was associated with an increased risk of BPD (OR 5.70, 95% CI 2.78-11.44, p = 1.37 × 10 -6 )., Conclusion: Our data suggest that polyhydramnios may be a clinical indicator of premature infants at increased risk for bronchopulmonary dysplasia. Combining curated registry data with PheWAS analysis creates a valuable tool to generate hypotheses., Impact: Polyhydramnios was significantly associated with bronchopulmonary dysplasia in both a curated registry and by ICD coding analysis with a phenome wide association study (PheWAS). Preterm polyhydramnios may be a clinical indicator of infants at increased risk for developing bronchopulmonary dysplasia after preterm birth. Combining curated registry with PheWAS analysis creates a valuable tool to generate hypotheses about perinatal risk factors and morbidities associated with preterm birth., (© 2022. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.)

Background: Oligohydramnios or polyhydramnios, is associated with chromosomal aberrations, particularly aneuploidy. However, its correlation with copy number variation (CNV) remains unclear., Methods: We retrospectively analyzed 428 cases with an abnormal level of amniotic fluid, comprising of 139 cases of single ultrasound findings (SU group) and 289 cases of multiple ultrasound findings (MU group), by CNV sequencing (CNV-Seq) and followed their pregnancy outcomes., Results: The overall detection rate of clinically significant findings was 8%, with 5% in the SU group and 11% in MU group. Besides, 18 microdeletion/microduplication syndromes were detected, with the highest rate of renal cysts and diabetes syndrome (22%, 4/18). Also, the rate of termination of pregnancy in MU group was much higher than that in the SU group (29% vs. 10%, ***p < 0.001), and in the MU-oligohydramnios subgroup, it was the highest (34%), regardless of cases with chromosomal anomaly and lost to follow-up., Conclusion: Our results showed that the abnormal level of amniotic fluid, especially combined with other ultrasound abnormalities, is closely related to chromosomal abnormalities and genetic CNVs. CNV-Seq may be useful in investigating pregnancies with an abnormal amniotic fluid level., (© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Twin-twin transfusion syndrome occurs in multiple gestations and involves a chronic flow of blood from one twin to another twin and is a rare entity. We present a case of 32-years-old primigravida with a twin pregnancy who presented with increasing abdominal girth inappropriate with her gestational age at 21 weeks of her pregnancy. Ultrasound findings were suggestive of twin-twin transfusion syndrome. The patient was provided with treatment options but due to polyhydramnios and short cervix, the patient went into spontaneous labour the same day with a poor pregnancy outcome. Twin-twin transfusion syndrome leads to a high rate of perinatal morbidity due to its poorly understood aetiology and difficulty in diagnosing and treatment. Early diagnosis during antenatal ultrasound is important in reducing morbidity and mortality rates., Keywords: case reports; fetoscopy; oligohydramnios; polyhydramnios; twins.

Up to 20% of monochorionic diamniotic twin pregnancies can be complicated with twin-to-twin transfusion syndrome (TTTS). This complication is diagnosed by ultrasound demonstrating amniotic fluid discordance between both amniotic sacs, with polyhydramnios in the recipient's sac and oligohydramnios in the donor's, secondary to an imbalance in blood volume exchange between twins. Ultrasound evaluation of the amniotic fluid volume, bladder filling, and assessment of fetal Doppler parameters provide the basis for classification of TTTS, allowing severity assessment. The Quintero's staging system provides a standardized prenatal estimate on the risk of intrauterine fetal demise of one or both twins and the need for fetoscopic laser coagulation of placental vascular anastomoses or delivery depending on the gestational age. However, a proportion of TTTS cases may present without a linear progressive deterioration and no ultrasound signs of preceding staging, in rare situations, they arise even without amniotic fluid discordance. Thus, these unusual clinical presentations of TTTS have long been grouped into the category of atypical TTTS. In this review, we show the clues for diagnosis and management of different atypical cases of TTTS highlighting their underlying mechanism to improve the clinical understanding of such atypical situations, avoid misdiagnosis of TTTS, and allow a timely referral to a fetoscopic center., Competing Interests: Declaration of competing interest The authors have no conflicts of interest., (Copyright © 2022. Published by Elsevier Ltd.)

Objectives: To compare maternal and perinatal outcomes in pregnancies with transient and persistent idiopathic polyhydramnios to those with normal amniotic fluid volume., Methods: This retrospective cohort study included subjects delivering a singleton pregnancy between January 1, 2015, and June 30, 2020, with sonography ≥26 weeks' gestation demonstrating transient or persistent idiopathic polyhydramnios (amniotic fluid index [AFI] ≥24.0 cm) or normal AFI (referent group). The primary maternal outcome was a composite of spontaneous preterm delivery <37 weeks, cesarean delivery for malpresentation, abnormal labor progress, or nonreassuring fetal status, operative vaginal delivery, hemorrhage requiring transfusion, and umbilical cord prolapse. The primary perinatal outcome was a composite of birthweight >4500 g, fetal or neonatal death, 5-minute Apgar score <7, and neonatal intensive care unit admission for >24 hours., Results: Patients with transient polyhydramnios (n = 259) exhibited maternal outcomes similar to those of the referent group (n = 435) but had significantly increased odds for the primary perinatal outcome (odds ratio [OR] 1.70, 95% confidence interval [CI] 1.15-2.53; P = .008) and for birthweight ≥4500 g (OR 8.70, 95% CI 1.89-40.0; P = .005). Persistent polyhydramnios (n = 176) was significantly associated with both the primary maternal (OR 1.93, 95% CI 1.27-2.95, P = .002) and primary perinatal outcome (OR 2.15, 95% CI 1.40-3.30; P < .001), and individually with cesarean delivery for abnormal labor (OR 3.22, 95% CI 1.55-6.68; P = .002) and birthweight ≥4500 g (OR 8.97, 95% CI 1.84-43.6; P = .007)., Conclusions: Transient idiopathic polyhydramnios does not impact maternal outcomes but is associated with increased odds of newborn birthweight >4500 g. Persistent polyhydramnios is associated with both adverse maternal and perinatal outcomes., (© 2022 American Institute of Ultrasound in Medicine.)

Objective: Society for Maternal-fetal medicine Consult Series (#46) states "antenatal fetal surveillance is not required for mild idiopathic" polyhydramnios defined as amniotic fluid index (AFI) of 24 cm or a deepest vertical pocket (DVP) between 8 and 11 cm. The objective of this study was to determine the cutoff for DVP which correlates with AFI ≥ 30 cm., Methods: This retrospective study of singleton third trimester ultrasounds included a study group randomly divided into test and validation. In the test group, DVP cutoffs correlating with AFI ≥ 30 cm which was used to define moderate-severe polyhydramnios were calculated in two ways, rounded to the nearest whole number: 1) a receiver operating curve and Youden's J statistic (DVP-Youden) and 2) calculation of the DVP percentile that corresponded with AFI of 30 cm (DVP-Percentile). Using the validation group, diagnostic characteristics were DVP-Youden and DVP-Percentile for diagnosis of AFI ≥ 30 cm and were compared against SMFM cutoffs (DVP-SMFM)., Results: Seventy one thousand eight hundred and ninety three ultrasound exams in the 3rd trimester had assessment of AFI and DVP. Moderate-severe polyhydramnios occurred in 286 (1.2%) in test group and 571 (1.2%) in validation group. AFI of 30 cm corresponded to the 98.9th percentile, which in turn correlated to a DVP of 10 cm (DVP-Percentile). The calculated cutoff for moderate-severe polyhydramnios was 8 cm for DVP-Youden., Conclusion: Using 8.0 cm rather than 12.0 cm increased the detection of moderate-severe polyhydramnios to 100% with a false positive rate under 5%. For those utilizing DVP for amniotic fluid evaluation, identification of a DVP ≥ 8.0 cm should prompt further evaluation with complete AFI., (© 2022 American Institute of Ultrasound in Medicine.)

Objective: We sought to perform a meta-analysis of the predictive value of antenatal ultrasonographic markers of bowel dilation, gastric dilation, polyhydramnios and abdominal circumference that predict complex gastroschisis and adverse perinatal outcomes DATA SOURCES: PubMed, Web of Science, Scopus and Embase were searched for relevant articles up to December 2020. Studies reporting prenatal ultrasonographic markers including intra-abdominal bowel dilation (IABD), extra-abdominal bowel dilation (EABD), bowel wall thickness, polyhydramnios, abdominal circumference <5th percentile, gastric dilation (GD) and bowel dilation not otherwise specified (BD-NOS) were included. The primary outcome was prediction of complex gastroschisis; secondary outcomes were length of hospital stay for newborn, time to full enteral feeding, postnatal mortality rate, incidence of necrotising enterocolitis and short bowel syndrome., Results: Thirty-six studies were included in this meta-analysis. We found significant associations between complex gastroschisis and IABD (OR=5.42; 95% CI 3.24 to 9.06), EABD (OR=2.27; 95% CI 1.40 to 3.66), BD-NOS (OR=6.27; 95% CI 1.97 to 19.97), GD (OR=1.88; 95% CI 1.22 to 2.92) and polyhydramnios (OR=6.93; 95% CI 3.39 to 14.18). Second trimester IABD and EABD have greater specificity for the prediction of complex gastroschisis than third trimester values with specificity of 95.6% (95% CI 58.1 to 99.7) and 94.6% (95% CI 86.7 to 97.9) for the second trimester IABD and EABD, respectively., Conclusion: Prenatal ultrasonographic markers, especially the second trimester IABD and EABD, can identify fetuses that develop complex gastroschisis. Furthermore, these specific ultrasonographic markers can identify those babies at the highest risk for severe complications of this congenital anomaly and hence selected for future antenatal interventions., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Introduction: Ultrasound assessment of fetuses subjected to hyperglycemia is recommended but, apart from increased size, little is known about its interpretation, and the identification of which large fetuses of diabetic pregnancy are at risk is unclear. Newer markers of adverse outcomes, abdominal circumference growth velocity and cerebro-placental ratio, help to predict risk in non-diabetic pregnancy. Our study aims to assess their role in pregnancies complicated by diabetes., Material and Methods: This is a retrospective analysis of a cohort of singleton, non-anomalous fetuses of women with pre-existing or gestational diabetes mellitus, and estimated fetal weight at the 10th centile or above. Gestational diabetes was diagnosed by selective screening of at risk groups. A universal ultrasound scan was offered at 20 and 36 weeks of gestation. Estimated fetal weight, abdominal circumference growth velocity, presence of polyhydramnios, and cerebro-placental ratio were evaluated at the 36-week scan. A composite adverse outcome was defined as the presence of one or more of perinatal death, arterial cord pH less than 7.1, admission to Neonatal Unit, 5-minute Apgar less than 7, severe hypoglycemia, or cesarean section for fetal compromise. A chi-squared test was used to test the association of estimated fetal weight at the 90th centile or above, polyhydramnios, abdominal circumference growth velocity at the 90th centile or above, and cerebro-placental ratio at the 5th centile or below with the composite outcome. Logistic regression was used to assess which ultrasound markers were independent risk factors. Odds ratios of composite adverse outcome with combinations of independent ultrasound markers were calculated., Results: A total of 1044 pregnancies were included, comprising 87 women with pre-existing diabetes mellitus and 957 with gestational diabetes. Estimated fetal weight at the 90th centile or above, abdominal circumference growth velocity at the 90th centile or above, cerebro-placental ratio at the 5th centile or below, but not polyhydramnios, were significantly associated with adverse outcomes: odds ratios (95% confidence intervals) 1.85 (1.21-2.84), 1.54 (1.02-2.31), 1.92 (1.21-3.30), and 1.53 (0.79-2.99), respectively. Only estimated fetal weight at the 90th centile or above and cerebro-placental ratio at the 5th centile or below were independent risk factors. The greatest risk (odds ratio 6.85, 95% confidence interval 2.06-22.78) was found where both the estimated fetal weight is at the 90th centile or above and the cerebro-placental ratio is at the 5th centile or below., Conclusions: In diabetic pregnancies, a low cerebro-placental ratio, particularly in a macrosomic fetus, confers additional risk., (© 2022 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).)

Objective: Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal phenotype. We assessed the prevalence of prenatally detectable phenotypes among patients with neurocognitive syndromes diagnosed postnatally by ES., Methods: The medical files of a cohort of 138 patients diagnosed postnatally with a neurocognitive disorder using ES were reviewed for prenatal sonographic data. The Online Mendelian Inheritance in Man (OMIM) database was searched for prenatally detectable phenotypes for all genes identified., Results: Prenatal imaging data were available for 122 cases. Of these, 29 (23.75%) had fetal structural abnormalities and another 29 had other ultrasound abnormalities (fetal growth restriction, polyhydramnios, elevated nuchal translucency). In 30 patients, structural aberrations that were not diagnosed prenatally were detected at birth; in 21 (17.2%), the abnormalities could theoretically be detected prenatally by third-trimester/targeted scans. According to OMIM, 55.9% of the diagnosed genes were not associated with structural anomalies., Conclusions: Most patients (52.5%) with postnatally diagnosed neurocognitive disorders did not have prenatal sonographic findings indicating prenatal ES should be considered. The prevalence of specific prenatal phenotypes such as fetal growth restriction and polyhydramnios in our cohort suggests that additional prenatal findings should be assessed as possible indications for prenatal ES., (© 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. Otocephaly is characterised by fetal agnathia, microstomia and synotia. As in our case, otocephaly is usually not recognised until the third trimester and leads to challenging clinical situations and decision making.A woman in her 30s presented to our tertiary hospital at 27 weeks of gestation because of an unexplained polyhydramnios. 3D imaging illustrated the complex syndrome of otocephaly and helped understand the present disease patterns. After premature birth, palliative care was agreed on and the newborn was able to pass away peacefully in the arms of his parents.We recommend the implementation of 3D imaging into routine scans for the assessment of the fetal face and ears, especially in situations of unexplained polyhydramnios., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: To compare the rate and severity of abnormal amniotic fluid volumes (oligohydramnios or polyhydramnios), as well as the distribution of amniotic fluid levels, in pregnancies with and without diabetes., Methods: We performed a retrospective cohort study of singleton nonanomalous pregnancies receiving an ultrasound examination (USE) in the third trimester. Pregnancies were categorized into those with and without diabetes and subcategorized by diabetes type. The primary outcomes were oligohydramnios or polyhydramnios. Polyhydramnios was also examined by severity. The association between maternal diabetes status and oligohydramnios or polyhydramnios was assessed using logistic regression. In addition, we computed gestational age-specific amniotic fluid index (AFI) and deepest vertical pocket (DVP) centiles for pregnancies with and without diabetes., Results: There were 60,226 USEs from 26,651 pregnancies that met inclusion criteria. There were 3992 (15.0%) pregnancies with diabetes and 22,659 (85.0%) without diabetes. Using AFI, the rate of polyhydramnios was 10.5 versus 3.8% (odds ratio [OR] 2.95; 95% confidence interval [CI] 2.62-3.32) for pregnancies with versus without diabetes, respectively; using DVP, the rate of polyhydramnios was 13.9 versus 5.4% (OR 2.84; 95% CI 2.56-3.15). Rates of oligohydramnios were also increased in pregnancies with diabetes (3.3 versus 2.6%; OR 1.26; 95% CI 1.04-1.52). The AFI and DVP were significantly higher in the cohort with diabetes between 28 and 36 weeks., Conclusion: Within our study population, pregnancies with diabetes had increased rates of oligohydramnios and polyhydramnios as well as increased gestational age-specific amniotic fluid volumes between 28 and 36 weeks. A higher prevalence of polyhydramnios was observed using DVP as compared to AFI; nevertheless, associations were similar using either method., (© 2021 American Institute of Ultrasound in Medicine.)

Purpose: To analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios., Methods: Data from all chromosomal microarray analyses (CMA) performed due to polyhydramnios between January 2013 and December 2019 were retrospectively obtained from the Ministry of Health Database. The rate of clinically significant (pathogenic and likely pathogenic) CMA findings in isolated and non-isolated polyhydramnios cohorts was compared to a local control group of 5541 fetuses with normal ultrasound, in which 78 (1.4%) abnormal results were demonstrated. Subgroup analyses were performed by the degree of polyhydramnios, week of diagnosis, maternal age, and the presence of additional sonographic anomalies., Results: In the isolated polyhydramnios cohort, 19/623 (3.1%) clinically significant CMA aberrations were noted, a significantly higher rate compared to the control population. However, the risk for abnormal CMA results in the 158 cases with mild polyhydramnios (AFI 25-29.9, or maximal vertical pocket 8-11.9 cm) did not significantly differ from pregnancies with normal ultrasound. Of 119 cases of non-isolated polyhydramnios (most frequently associated with cardiovascular (26.1%) and brain (15.1%) anomalies), 8 (6.7%) abnormal CMA findings were noted, mainly karyotype-detectable., Conclusion: Mild polyhydramnios was not associated with an increased rate of clinically significant microarray results, compared to pregnancies with normal ultrasound. An extensive anatomical sonographic survey should be performed in pregnancies with polyhydramnios, with consideration of fetal echocardiography., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH, DE part of Springer Nature.)

Objective: Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) remains one of the most frequently missed congenital anomalies prenatally. The aim of our study was to elucidate the sonographic manifestation of EA/TEF throughout pregnancy., Methods: This was a retrospective study of data obtained from a tertiary center over a 12-year period. The prenatal ultrasound scans of fetuses with EA/TEF were assessed to determine the presence and timing of detection of three principal signs: small/absent stomach and worsening polyhydramnios, both of which were considered as 'suspected' EA/TEF, and esophageal pouch, which was considered as 'detected' EA/TEF. We assessed the yield of the early (14-16 weeks' gestation), routine mid-trimester (19-26 weeks) and third-trimester (≥ 27 weeks) anomaly scans in the prenatal diagnosis of EA/TEF., Results: Seventy-five cases of EA/TEF with available ultrasound images were included in the study. A small/absent stomach was detected on the early anomaly scan in 3.6% of fetuses scanned, without a definitive diagnosis. On the mid-trimester scan, 19.4% of scanned cases were suspected and 4.3% were detected. On the third-trimester anomaly scan, 43.9% of scanned cases were suspected and 33.9% were detected. An additional case with an esophageal pouch was detected on magnetic resonance imaging (MRI) in the mid-trimester and a further two were detected on MRI in the third trimester. In total, 44.0% of cases of EA/TEF in our cohort were suspected, 33.3% were detected and 10.7% were suspected but, eventually, not detected prenatally., Conclusions: Prenatal diagnosis of EA/TEF on ultrasound is not feasible before the late second trimester. A small/absent stomach may be visualized as early as 15 weeks' gestation. Polyhydramnios does not develop before the mid-trimester. An esophageal pouch can be detected as early as 22 weeks on a targeted scan in suspected cases. The detection rates of all three signs increase with advancing pregnancy, peaking in the third trimester. The early and mid-trimester anomaly scans perform poorly as a screening and diagnostic test for EA/TEF. © 2020 International Society of Ultrasound in Obstetrics and Gynecology., (© 2020 International Society of Ultrasound in Obstetrics and Gynecology.)

Introduction: Uterocervical angle measurements in pregnant women with idiopathic polyhydramnios were appraised for their predictive value for spontaneous preterm labor., Material and Methods: In this prospective study, we included nulliparous and multiparous pregnant women diagnosed with idiopathic polyhydramnios at 24-28 weeks at our polyclinic; the uterocervical angle and cervical length were measured by transvaginal ultrasound at the time of diagnosis. Routine pregnancy follow-up was done by our team and gestational age at delivery and maternal-fetal outcomes were noted., Results: In total, 24 patients delivered before 37 weeks and 36 patients delivered at 37 weeks or later. Preterm labor subjects had larger UCA values (126.7±12.9° vs. 100.8±16.2°) and term labor patients had larger cervical length values (34.3±4.5 mm vs. 40.6±5.2 mm). In women with idiopathic polyhydramnios, the area under the curve for the uterocervical angle was 0.885 (p<0.001) and it was 0.823 for the cervical length (p<0.001)., Discussion: The uterocervical angle, a sagittal transvaginal cervical image measurement, is a practical method that successfully predicts spontaneous preterm labor risk in singleton pregnancies with idiopathic polyhydramnios. In addition, the uterocervical angle displayed greater sensitivity, but lower specificity, compared with cervical length measures., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Giant chorioangiomas are benign placental tumours, which can have potential severe fetal consequences. Complications in pregnancy include polyhydramnios, fetal hydrops and growth restriction. Such pregnancies can carry a significant risk of poor perinatal outcome and require close monitoring. Therapeutic options include fetoscopic or interstitial vessel ablation, chemosclerosis and embolisation. Where there is no evidence of fetal compromise, such pregnancies can successfully be managed conservatively., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: To assess the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS) to further delineate the fetal presentation of this syndrome., Methods: This was a retrospective study. Fetal MDS was diagnosed prenatally by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal characteristics, indications for prenatal diagnosis, sonographic findings, CMA results, and pregnancy outcomes., Results: Four cases were diagnosis as MDS by CMA. The most common sonographic features were ventriculomegaly (3/4) and polyhydramnios (2/4). Deletion sizes ranged from 1.5 to 5.4 Mb. All microdeletions were located at the MDS critical region and showed haploinsufficiency of the YWHAE, CRK, and PAFAH1B1. All patients chose to terminate the pregnancy. Parental chromosome analysis were preformed in three cases and demonstrated that two cases were de novo and one case was caused by inherited derivative chromosomes from parental balanced translocations., Conclusion: The most common prenatal ultrasound findings of MDS were ventriculomegaly and polyhydramnios. CMA can improve diagnostic precision for detecting MDS., (© 2020 John Wiley & Sons Ltd/University College London.)

Introduction: We aimed to assess the diagnostic yield of ultrasonography in the identification of the etiology of hydramnios, and the added value of MRI or amniocentesis., Methods: We conducted a single-center retrospective study including pregnancies with confirmed hydramnios (defined as deepest pocket ≥8 cm) between January 2013 and May 2017. Twin pregnancies, secondary hydramnios discovered after the diagnosis of a causal pathology, and pregnancies of unknown outcome were excluded. All pregnancies underwent a targeted scan, and selected cases underwent MRI or amniocentesis., Results: A total of 158 patients with confirmed hydramnios were included. Hydramnios was associated with a fetal pathology in 37 cases (23.4%), with diabetes in 39 (24.6%), isolated macrosomia in 16 (10.1%), and considered idiopathic in 66 (41.7%). Ultrasonography established a diagnosis of the underlying pathology in 73% of cases. Amniocentesis was done in 31 cases (20%) and it allowed diagnosis of chromosome anomalies, esophageal atresia, myotonic dystrophy congenital type, Prader-Willi syndrome, and Bartter syndrome. MRI was done in 15 cases (10%) and it allowed one additional diagnosis of esophageal atresia. The diagnostic yields of MRI and amniocentesis were 91.7% and 95.2%, respectively. There were five false positive diagnoses at ultrasonography, and one false positive diagnosis at MRI., Conclusion: Hydramnios can be associated with a wide variety of underlying pathologies. Diagnostic ultrasound can attain a diagnosis in the majority of cases. Amniocentesis offers a valuable complementary assessment., (© 2020 John Wiley & Sons Ltd.)

Objectives: To identify antenatal ultrasound markers that can differentiate between simple and complex gastroschisis and assess their predictive value., Methods: This was a prospective nationwide study of pregnancies with isolated fetal gastroschisis that underwent serial longitudinal ultrasound examination at regular specified intervals between 20 and 37 weeks' gestation. The primary outcome was simple or complex (i.e. involving bowel atresia, volvulus, perforation or necrosis) gastroschisis at birth. Fetal biometry (abdominal circumference and estimated fetal weight), the occurrence of polyhydramnios, intra- and extra-abdominal bowel diameters and the pulsatility index (PI) of the superior mesenteric artery (SMA) were assessed. Linear mixed modeling was used to compare the individual trajectories of cases with simple and those with complex gastroschisis, and logistic regression analysis was used to estimate the strength of association between the ultrasound parameters and outcome., Results: Of 104 pregnancies with isolated fetal gastroschisis included, four ended in intrauterine death. Eighty-one (81%) liveborn infants with simple and 19 (19%) with complex gastroschisis were included in the analysis. We found no relationship between fetal biometric variables and complex gastroschisis. The SMA-PI was significantly lower in fetuses with gastroschisis than in healthy controls, but did not differentiate between simple and complex gastroschisis. Both intra- and extra-abdominal bowel diameters were larger in cases with complex, compared to those with simple, gastroschisis (P < 0.001 and P < 0.005, respectively). The presence of intra-abdominal bowel diameter ≥ 97.7 th percentile on at least three occasions, not necessarily on successive examinations, was associated with an increased risk of the fetus having complex gastroschisis (relative risk, 1.56 (95% CI, 1.02-2.10); P = 0.006; positive predictive value, 50.0%; negative predictive value, 81.4%)., Conclusions: This large prospective longitudinal study found that intra-abdominal bowel dilatation when present repeatedly during fetal development can differentiate between simple and complex gastroschisis; however, the positive predictive value is low, and therefore the clinical usefulness of this marker is limited. © 2019 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology., (© 2019 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.)

Objectives: Nonimmune hydrops fetalis (NIHF) accounts for 90% of hydrops fetalis cases. About 15% to 29% of unexplained NIHF cases are caused by lysosomal storage diseases (LSD). We review the spectrum of LSD and associated clinical findings in NIHF in a cohort of patients referred to our institution., Methods: We present a retrospective case-control study of cases with NIHF referred for LSD biochemical testing at a single center. Cases diagnosed with LSD were matched to controls with NIHF and negative LSD testing and analyzed according to the STROBE criteria to the extent the retrospective nature of this study allowed., Results: Between January 2006 and December 2018, 28 patients with NIHF were diagnosed with a LSD. Eight types of LSD were diagnosed: galactosialidosis 8/28 (28.6%), sialic acid storage disease (SASD) 5/28 (17.9%), mucopolysaccharidosis VII 5/28 (17.9%), Gaucher 4/28 (14.3%), sialidosis 2/28 (7.1%), GM1 gangliosidosis 2/28 (7.1%), Niemann-Pick disease type C 1/28 (3.6%), and mucolipidosis II/III 1/28 (3.6%). Associated clinical features were hepatomegaly 16/21 (76.2%) vs 22/65 (33.8%), P < .05, splenomegaly 12/20 (60.0%) vs 14/58 (24.1%), P < .05, and hepatosplenomegaly 10/20 (50.0%) vs 13/58 (22.4%) P < .05., Conclusion: The most common LSD in NIHF were galactosialidosis, SASD, mucopolysaccharidosis VII, and Gaucher disease. LSD should be considered in unexplained NIHF cases, particularly if hepatomegaly, splenomegaly, or hepatosplenomegaly is visualized on prenatal ultrasound., (© 2020 John Wiley & Sons, Ltd.)

Aim: To evaluate the relationship between polyhydramnios severity and alterations in Doppler indices and perinatal outcomes in idiopathic polyhydramnios. Methods: This prospective case control study was conducted in a tertiary hospital with 173 singleton pregnancies between 29 and 41 weeks gestational age between May 2015 and December 2016. Polyhydroamnios is classified as mild (amniotic fluid index 25-30 cm), moderate (30.1-35 cm), and severe (>35 cm) and the number of the patients in mild, moderate, and severe groups were 55, 39, and 26, respectively. The results were compared with 53 healthy controls. Fetal echocardiography and Doppler measurements of the groups were made and the perinatal outcomes from each group were noted. The relationship between the results and the severity of polyhydramnios was analyzed statistically. Results: The myocardial performance index was significantly higher in the fetuses of women with severe polyhydramnios compared to the other groups ( p  = .006). There were statistically significant differences among the groups in terms of first and fifth minutes according to the Apgar scores ( p  = .011, p  = .016 respectively). In the severe polyhydramnios group compared with other groups, the middle cerebral artery pulstatility index was significantly lower ( p  = .002), while middle cerebral artery peak systolic velocity and umbilical artery pulstatility index values were significantly higher ( p  = .0001, p  = .045). Conclusions: Our study showed an increase in myocardial performance index and middle cerebral artery peak systolic velocity values and a decrease in middle cerebral artery pulstatility index values, especially in the severe idiopathic polyhydramnios group. Idiopathic polyhydramnios were associated with low first and fifth minute Apgar score. Additionally, the increase in umbilical artery pulstatility index value and the decrease in middle cerebral artery pulstatility index value became more apparent with the increase in amniotic fluid volume. It should be taken into consideration that brain sparing effect may develop especially in cases with severe polyhydramnios.

Objectives: To identify abnormal amniotic fluid volumes (AFVs), normal volumes must be determined. Multiple statistical methods are used to define normal amniotic fluid curves; however, quantile regression (QR) is gaining favor. We reanalyzed ultrasound estimates in identifying oligohydramnios, normal fluid, and polyhydramnios using normal volumes calculated by QR., Methods: Data from 506 dye-determined or directly measured AFVs along with ultrasound estimates were analyzed. Each was classified as low, normal, or high for both the single deepest pocket (SDP) and amniotic fluid index (AFI). A weighted κ statistic was used to assess the level of agreement between the AFI and SDP compared to actual AFVs by QR., Results: The overall level of agreement for the AFI was fair (κ = 0.26), and that for the SDP was slight (κ = 0.19). Although not statistically significant (P = .792), the positive predictive value to classify a low volume using the AFI was lower compared to the SDP (35% vs 43%). The positive predictive value for a high volume was higher using the AFI compared to the SDP (55% versus 31%) but not statistically significant. The missed-call rate for high-volume identification by the SDP versus AFI was statistically significant (odds ratio, 5.5; 95% confidence interval, 2.04-14.97). The missed-call rate for low-volume identification by the AFI versus SDP was not statistically significant (odds ratio, 3.3; 95% confidence interval, 0.96-11.53)., Conclusions: Both the AFI and SDP identify actual normal AFVs by QR, with sensitivity higher than 90%. The SDP is superior for identification of oligohydramnios, and the AFI superior for identification of polyhydramnios., (© 2019 by the American Institute of Ultrasound in Medicine.)

Objectives: To assess adverse outcome of polyhydramnios without morphological abnormalities and to determine the factors associated with an adverse outcome., Methods: This is a retrospective observational cohort study conducted in a French tertiary care unit between 2008 and 2018 including all women with singleton pregnancy complicated by polyhydramnios. Presence of morphological abnormality was an exclusion criteria. The primary outcome was the rate of adverse outcome, defined by a composite criterion including death or postnatal discovery of malformation or chronic pathology. Maternal, obstetrical, paediatric and polyhydramnios characteristics were collected., Results: Ninety-one women with polyhydramnios were included. The rate of adverse outcome was 24.2% (22/91). This rate was 20,3% in case of idiopathic polyhydramnios and 33,3% in case of maternal diabetes associated. The postnatal mortality rate was 5.5%. The rate of malformations not diagnosed in antenatal was 11%. Obesity (50% vs. 18,8%; P=0,004), early diagnosis (72,7% before 32 WG vs. 44,9%; P=0,02), and severity of polyhydramnios (22,7% vs. 4,3% in severe polyhydramnios; P=0,01) were associated significantly with an adverse outcome. In these cases, the incidence of preterm delivery was higher., Conclusion: Polyhydramnios must have second-line ultrasound, including isolated maternal diabetes. A systematic genetic assessment can be discussed., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Purpose:  To evaluate labor and perinatal outcomes of transient isolated polyhydramnios., Materials and Methods:  A retrospective cohort study (2008-2013) at a university-affiliated, tertiary medical center. Eligibility was limited to patients with singleton gestations, no maternal diabetes or known structural/chromosomal anomalies, and no rupture of the membranes prior to delivery, at > 34 weeks of gestation. All women underwent routine sonogram for estimation of fetal weight (sEFW) between 28-34 weeks of gestation, and a second routine sonogram at admission. We compared women diagnosed with polyhydramnios at the time of the sEFW which later resolved, with women who had normal AFI during the sEFW., Results:  Overall, 44 263 women delivered during this time period, of which 292 (0.7 %) with transient polyhydramnios (study group) and 29 682 with a normal amniotic fluid level (control group) were eligible for analysis. Women with transient polyhydramnios had a higher risk for assisted vaginal delivery (AVD), mainly due to abnormal/intermediate fetal heart rate tracings (aOR 2.3, 95 % CI 1.2-5.5), and a higher risk for cesarean delivery (CD), mostly because of labor dystocia (aOR 2.5, 95 % CI 1.2-5.1 for 1st stage arrest and aOR 3.4, 95 % CI 1.6-7.2) for 2nd stage arrest), suspected macrosomia (aOR 3.2, 95 % CI 1.6-6.6) and malpresentation (aOR 6.6, 95 % CI 2.0-21.1)., Conclusion:  Transient isolated polyhydramnios detected during the sonogram at 28-32 weeks of gestation is an independent risk factor for the need for obstetrical intervention during labor., Competing Interests: The authors declare that they have no conflict of interest., (© Georg Thieme Verlag KG Stuttgart · New York.)

Background: Kagami-Ogata syndrome is also known as paternal uniparental disomy 14 and related disorders and is caused by abnormal genomic imprinting in the long arm of the chromosome 14q32.2 region. Its clinical manifestations include polyhydramnios in the fetal stage, respiratory insufficiency because of a small thorax, abdominal wall abnormalities, and peculiar facial features after birth., Case Presentation: A 38-year-old Japanese primigravida woman was referred to our hospital in the 19th week of pregnancy for suspected omphalocele. She had a history of hypothyroidism but was prescribed orally administered levothyroxine (50 μg/day) prior to conception and was euthyroid. Her ultrasound scan prior to visiting our hospital revealed fetal omphalocele, heavy for date, and polyhydramnios. The mother was advised to be admitted for observation from 28 weeks of gestation for threatened premature delivery. She required amniodrainage at 29 and 32 weeks of gestation. At 35 weeks of gestation, the fetal membrane prematurely ruptured and she gave birth after an emergency Cesarean section. The infant was a male child with a birth weight of 3188 g, and was suspected to have Kagami-Ogata syndrome after birth based on thoracic hypoplasia, swallowing function abnormalities, and peculiar facial features. A definitive diagnosis was established by performing genetic testing of the infant after obtaining informed written consent from both the parents; the results of the genetic testing revealed hypermethylated intergenic-differentially methylated region and maternally expressed gene 3-differentially methylated region in the corresponding chromosome 14 region. Both the parents were genetically tested after adequate genetic counseling, which revealed a de novo microdeletion in a differentially methylated region., Conclusion: Kagami-Ogata syndrome should have been suspected because of the presence of polyhydramnios and omphalocele during pregnancy. Respiratory insufficiency soon after birth, because of a small thorax, is expected in this disease and a diagnosis during pregnancy may have enabled appropriate care after birth.

Twin-to-twin transfusion syndrome (TTTS) is a serious complication typical of monochorionic pregnancies. Cases in dichorionic pregnancies have been described. The authors present a case report of a presumed TTTS in a dichorionic pregnancy followed at our institution in which the patient presented to the emergency department at 31 4/7 weeks' gestation complaining of lack of fetal movements. Both fetuses did not show any cardiac activity. On the first twin, an oligohydramnios was present and his bladder was not visualised and, on the second twin, a polyhydramnios and an augmented bladder were visualised. Pathological findings of the fetuses were compatible with a diagnosis of TTTS and placental study confirmed the presence of a dichorionic/diamniotic placenta, with superficial vessels crossing the dividing membrane., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: This study sought to determine whether there is a significant difference in amniotic fluid measurements when measuring perpendicular to the floor compared with perpendicular to the uterine contour using both amniotic fluid index and single deepest pocket., Methods: This was a single-centre, prospective study of women with singleton gestation who were undergoing fetal ultrasound examination. A total of 240 women were enrolled, and single deepest pocket and amniotic fluid index were measured with both techniques. Correlation coefficient and intraclass correlation coefficient were used to assess the agreement between the values using the two methods of measurement (Canadian Task Force Classification II-2)., Results: A strong correlation was found between amniotic fluid index measurements (correlation coefficient 0.82; intraclass correlation coefficient 0.7). A strong correlation also was found between single deepest pocket measurements (correlation coefficient 0.7; intraclass correlation coefficient 0.6)., Conclusion: The measurement of amniotic fluid index and single deepest pocket can be performed either perpendicular to the floor or perpendicular to the uterine contour. There is no significant difference between these measurements and they correlate well., (Copyright © 2019. Published by Elsevier Inc.)

Objective: We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and four-dimensional (3D/4D) ultrasonography in utero., Case Report: A 39-year-old Japanese pregnant woman was referred because of polyhydramnios at 29 weeks' gestation. Conventional ultrasonography showed a hypoplastic mandible on the sagittal section of fetal head. Continuous observation using a 3D ultrasonography additionally demonstrated bilateral downslanting palpebral fissures with symmetry and macrostomia as well as micrognathia. Both ears were microtia and no polydactyly or missing fingers were found., Conclusion: The advantage of the rendering mode of 3D images covering entire face including ears and limbs was enhanced by a continuous observation, so called 4D ultrasonography, under a condition of polyhydramnios, providing visual diagnosis in utero., (Copyright © 2019. Published by Elsevier B.V.)

Background: Amniotic fluid is essential to normal fetal development and is estimated clinically with ultrasound scanning to identify pregnancies that are at risk for poor perinatal outcome., Objective: Our goal was to develop a United States standard for amniotic fluid volume that is estimated by the amniotic fluid index and single deepest pocket., Study Design: We performed a planned secondary analysis of a multicenter observational study of 2334 low-risk women with normal singleton gestations from 1 of 4 self-reported racial/ethnic groups. Eligible women had confirmed first-trimester dating criteria with health status, lifestyles, and medical and obstetric histories that were associated with normal fetal growth. Consenting women underwent serial (up to 5) sonographic evaluations of amniotic fluid between 15 and 40 weeks of gestation after being assigned randomly to 1 of 4 gestational age observation schedules. Twelve United States perinatal centers participated, and all sonograms were performed by credentialed sonographers who used identical, high-resolution equipment; caregivers were unaware of results but were notified for oligohydramnios. Women (n=597) who were subsequently found to have clinically significant antepartum complications were excluded. Racial/ethnic-specific nomograms for amniotic fluid index and single deepest pocket across gestation were developed with the use of linear mixed models with cubic splines; racial/ethnic differences were evaluated both with global and between-group tests. Median, 3rd, 5th, 10th, 90th, 95th and 97th percentile values were also estimated. We further considered the possible confounding effects of selected maternal characteristics and the estimated fetal weight at each sonogram., Results: A total of 1719 pregnant women met inclusion criteria and had available data. These included 480 non-Hispanic white women, 418 non-Hispanic black women, 485 Hispanic women, and 336 Asian women. Both the amniotic fluid index and the single deepest pocket varied across gestation with maximal values at 26 and 33 weeks of gestation, respectively. Statistically significant differences were observed by maternal race/ethnicity. The between-group differences that were observed at 17-22 and 35-40 weeks of gestation remained statistically significant after adjustment for maternal characteristics and estimated fetal weight. These between-group racial/ethnic differences were most prominent after 35 weeks of gestation and at the extremes of dispersion (3rd and 97th percentiles). All 3rd and 97th percentile amniotic fluid index values were within the range of commonly used cutoffs to define oligohydramnios (≤5 cm) and polyhydramnios (≥25 cm). However, the 3rd percentile values ranged between 5.9 cm at 40 weeks of gestation and 10.1 cm at 25-27 weeks of gestation; the 97th percentile values ranged between 24.8 cm at 38 weeks of gestation and 15.7 cm at 15 weeks of gestation., Conclusion: Sonographic amniotic fluid volume estimates vary by racial/ethnic group, but the absolute differences appear to be small and may not be clinically significant. Selected maternal characteristics and estimated fetal weight did not affect the racial/ethnic differences. Between-group differences are maximal after 35 weeks of gestation and at the extremes of the upper and lower dispersion estimates. Given the observed variability in extreme (3rd and 97th percentile) dispersion values over the gestation, use of single cutoffs to define out-of-range measurements may not be appropriate clinically. These data might form a contemporary United States standard for amniotic fluid estimation that uses the amniotic fluid index and the single deepest pocket., (Copyright © 2019 Elsevier Inc. All rights reserved.)