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Sonographic Assessment of Amniotic Fluid
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
The cause of polyhydramnios is either excess fetal urine production or decreased clearance. The most common etiologies of polyhydramnios are maternal diabetes or fetal anomalies that result in defective swallowing (e.g., anencephaly, Dandy Walker malformation, cleft palate, micrognathia, neurologic disorders, obstruction of the trachea or gastrointestinal tract, CDH, CCAM). Other fetal causes are: Conditions that causes high-output cardiac state (e.g., tetralogy of Fallot, aortic coarctation, supraventricular tachycardia, complete heart block, thyrotoxicosis), uteropelvic junction obstruction, Bartter syndrome, and multifetal gestation (e.g., twin-to-twin transfusion syndrome [TTTS]). Less common etiologies include Rh or other isoimmunization, congenital infections (e.g., parvovirus, cytomegalovirus, syphilis), and maternal Ballantynes syndrome. In about 50–60% of cases of polyhydramnios, especially when mild, the cause is unknown [69, 70]. Severe polyhydramnios is usually pathologic.
Ultrasound
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
L. M. Porche, S. P. Chauhan, A. Abuhamad
Polyhydramnios is sonographically diagnosed as a single deepest vertical pocket of ≥8 cm or amniotic fluid index of ≥24 cm (preferred) after 20 weeks’ gestation. Once polyhydramnios is diagnosed, a detailed ultrasound should be performed to rule out fetal anomaly such as gastrointestinal obstruction, craniofacial abnormality, neuromuscular problems, or abnormality leading to high-output heart failure. Results of oral glucose tolerance testing should also be confirmed, as osmotic diuresis from gestational diabetes can also lead to polyhydramnios. Polyhydramnios is considered mild if the single deepest vertical pocket is 8–11 cm or the amniotic fluid index is 24–29.9 cm (Table 4.8). Mild polyhydramnios can be monitored, but antenatal surveillance and early delivery are not recommended. Moderate to severe polyhydramnios is an indication for antenatal surveillance and delivery between 39+0 and 39+6 weeks’ gestation. Ultrasound can also be used to guide amnioreduction. Amnioreduction is only recommended for severe polyhydramnios (deepest vertical pocket ≥16 cm or amniotic fluid index ≥35 cm) that is associated with significant maternal discomfort and dyspnea (see Chap. 59 in Maternal-Fetal Evidence Based Guidelines) [44].
Beckwith–Wiedemann Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Jirat Chenbhanich, Sirisak Chanprasert, Wisit Cheungpasitporn
Perinatal period: Polyhydramnios and macrosomia are the most frequently reported prenatal abnormalities [38,39]. Increased abdominal circumference, visceromegaly, macrosomia, renal anomalies, enlarged placenta, and abdominal wall defects—e.g., omphalocele, umbilical hernia, and diastasis recti—can be detected prenatally and may lead to the clinician's suspicion of the syndrome. The frequency of BWS among cases with omphalocele has ranged from <3% to 20% [40,41]. Placental mesenchymal dysplasia, an uncommon vasculopathy of placenta characterized by multicystic placental lesions on ultrasonography, has been observed in BWS with paternal UPD [42]. BWS has been associated with maternal hyperreactio luteinalis, which is characterized by bilateral ovarian enlargement with multiple theca lutein cysts and is detectable by ultrasound after the first trimester [43]. The umbilical cord can be thickened. Half of the affected infants are born prematurely, and the risk of prematurity is associated with polyhydramnios [38]. Maternal complications in pregnancies with BWS fetuses include gestational hypertension, preeclampsia, and vaginal bleeding. Three fetuses have been associated with maternal HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count), after which the molecular analysis revealed pathogenic CDKN1C mutations [44].
Comparison of Prenatal Ultrasound and Autopsy Findings of Fetuses Terminated in Second Trimester: A Five-Year Experience of a Tertiary Center
Published in Fetal and Pediatric Pathology, 2023
Ezgi Yılmazer Yonder, Murat Cagan, Ozgur Deren, Kadri Safak Gucer
In the present study, anal atresia (36.4%) was the most frequent anomaly among the pathological findings of the gastrointestinal system as in the study by Phelps et al. [19]. None of these cases were diagnosed by US. Stoll et al. evaluated 86 cases and showed an accompanying pathology in 74.4% of cases [20]. Since ultrasonic diagnostic signs are mostly indirect findings such as bowel dilatation and intraluminal calcifications in late pregnancy, the prenatal detection frequency of this condition is low and in most cases, anorectal atresia is detected only after birth. We detected omphalocele in 2 fetuses, and genetic study showed 4p deletion in one and trisomy 18 in the other. In one fetus with omphalocele in prenatal US, the autopsy excluded the diagnosis and found different findings. Tracheoesophageal fistula was detected in 2 fetuses at autopsy. In a study conducted at Oxford Children’s Hospital in 2016, the sensitivity in diagnosing prenatal TEF was 26% and this frequency increased to 57% in tertiary care centers. Only 67% of fetuses that have been diagnosed with prenatal TEF had a history of polyhydramnios [21]. In our cases, polyhydramnios was not observed because it accompanied renal anomalies in both, and this situation made prenatal diagnosis difficult.
Establishing perinatal and neonatal features of Prader-Willi syndrome for efficient diagnosis and outcomes
Published in Expert Opinion on Orphan Drugs, 2020
Lili Yang, Bo Ma, Shujiong Mao, Qiong Zhou, Chaochun Zou
Our previous study revealed polyhydramnios in 42.6% of the patients, which is far higher than the general population (1–3%) [14]. Whittington et al. showed a higher rate of polyhydramnios comparing with the general population in a UK sample (28.3% vs. 0.04%) [19]. 18% of mothers reported polyhydramnios during the pregnancy in a multicenter study of maternal and neonatal outcomes of 355 PWS patients [21]. Gross et al. found that polyhydramnios was significantly more prevalent in 37 pregnancies with a fetus with PWS than in their closest siblings [22]. Polyhydramnios was reported in 25% of 790 PWS patients [5,14,19,21,23]. Polyhydramnios commonly occurs in the third trimester of pregnancy. The underlying mechanism of polyhydramnios is unclear, and reduced fetal swallowing is regarded as a cause of polyhydramnios, in analogy with the sucking problems encountered in neonatal life [24].
Effect of maternal betamethasone on hydrops fetalis caused by extralobar pulmonary sequestration: a case report
Published in Journal of Obstetrics and Gynaecology, 2019
Cécile Guenot, Karine Dubrit, Karine Lepigeon, Eric Giannoni, David Baud, Yvan Vial
A 24-year-old woman underwent a morphologic scan in our department at 22 weeks of gestation (WG), which revealed an ovoid hyperechogenic mass (21 cm3) at the base of the left foetal lung (Figure 1(A)), displacing the heart to the right. The Power Doppler revealed a feeding vessel arising from the abdominal aorta, which suggested a bronchopulmonary sequestration. Five weeks later (27 WG), the size of the mass was stable (21 cm3) but a left pleural effusion appeared (Figure 1(B)). A foetal lung maturation with betamethasone was administered for 2 days (2 × 12 mg 24 hours apart), with the complete resolution of the pleural effusion after two days. Serial ultrasound monitoring indicated a progressive increase in the tumour’s volume (35 cm3), with a progressive pleural effusion and polyhydramnios (Figure 1(C)). According to the resolution of the pleural effusion after the first treatment of betamethasone, a second course was given at 31 WG. The pleural effusion disappeared again a few days after this treatment. At 33 WG, the patient developed a symptomatic polyhydramnios, treated by amniodrainage. One week later (34 WG), the pleural effusion and the polyhydramnios reappeared, the BPS had grown (36 cm3) and a frontal oedema was present. A third course of the betamethasone was administered; one week later, no pleural effusion was present and the pulmonary mass was smaller (23 cm3).