The sonograms of 195 singleton pregnancies complicated by polyhydramnios were reviewed, and follow-up information was obtained on 191 patients. A grading system was developed that differentiated mild from severe polyhydramnios using real-time or static sonographic equipment. Mild polyhydramnios was present in 138 (71%), and severe polyhydramnios was present in 57 (29%). Previously it has been reported that 60% of cases of polyhydramnios are idiopathic and the pregnancies have a normal outcome. Twenty percent are associated with maternal abnormalities and 20% are associated with fetal anomalies. In this study, pregnancies with severe polyhydramnios had a much greater prevalence of fetal anomalies (75%) than pregnancies with mild polyhydramnios (29%). The 57 singleton pregnancies with severe polyhydramnios were analyzed in depth. Fourteen (25%) of the fetuses were normal; 43 (75%) had significant congenital abnormalities that predominantly involved the CNS, gastrointestinal tract, heart, and genitourinary tract. In all fetuses with primary CNS abnormalities, polyhydramnios was diagnosed at or before 30 weeks of gestation, while in most of the fetuses (83%) with gastrointestinal abnormalities it was diagnosed after 30 weeks. Sonographic findings correlated closely with the findings noted at birth or autopsy. In patients with severe polyhydramnios, normal sonograms were sensitive in excluding major congenital anomalies and, thus, were helpful in providing the parents with favorable prognoses. Sonograms should be performed in patients with polyhydramnios to identify congenital anomalies and to provide information regarding prognosis for fetal outcome.
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http://dx.doi.org/10.2214/ajr.148.1.155 | DOI Listing |
Radiol Case Rep
March 2025
Dilla University, College of Medicine and Health Sciences, Department of Obstetrics and Gynecology, Dilla, Ethiopia.
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. Although prenatal diagnosis is ideal, many cases are identified postnatally. This case report details an 18-year-old primigravid lady in her third trimester who presented with severe polyhydramnios and fetal bowel dilation observed via ultrasound.
View Article and Find Full Text PDFJ Med Ultrasound
November 2024
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Amniotic fluid assessment is crucial in prenatal ultrasound to monitor fetal conditions, with polyhydramnios, characterized by excessive amniotic fluid, affecting 1%-2% of pregnancies. Polyhydramnios is linked to complications such as placental abruption, preterm labor, congenital anomalies, and postpartum hemorrhage, emphasizing the need for early detection and management. While idiopathic causes account for 60%-70% of cases, other causes include impaired fetal swallowing and increased urine production due to maternal, fetal, and placental conditions.
View Article and Find Full Text PDFPrenatally diagnosed intracranial hemorrhage in the fetus is associated with a wide range of neonatal disorders, from completely uncomplicated physiological development to severe neurological impairment or death. The incidence is 0.6-1/1,000 births.
View Article and Find Full Text PDFNonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is a rare inherited neurometabolic disorder caused by a deficiency in the glycine cleavage enzyme system (GCS), leading to the pathological accumulation of glycine in blood and cerebrospinal fluid (CSF). This case report details a neonate presenting with central apnea, profound hypotonia, and refractory seizures, alongside prenatal findings of polyhydramnios and hiccup-like fetal movements, all strongly suggestive of severe NKH. Diagnostic evaluation confirmed markedly elevated glycine levels in serum and CSF, with a CSF-to-plasma glycine ratio exceeding 0.
View Article and Find Full Text PDFCase Rep Endocrinol
December 2024
Henry Ford St. John Hospital, Detroit, Michigan, USA.
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