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Second-trimester screening for fetal abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Jolene C. Muscat, Anthony M. Vintzileos
Fetal pyelectasis, defined as a renal pelvis anterior–posterior diameter at least 4 mm, is present with increased frequency in Down syndrome fetuses as compared with second-trimester euploid fetuses (Fig. 13) (50). As an isolated marker, the likelihood ratio ranges from 1.5 to 1.9; however, the sensitivity for this marker is low (17–25%) with a false-positive rate of 2% to 3%, making this marker difficult to use as an isolated finding or in a low-risk population (49–51).
The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
A fatal neonatal outcome was reported [22] in a patient with myopathic mitochondrial DNA depletion. He developed cyanosis, a weak cry, and generalized hypotonia immediately after birth. Spontaneous movements were diminished, as were reflexes. Ultrasonography of the brain showed periventricular hyperechogenicity and dilated lateral ventricles. EEG was abnormal. There was bilateral renal pyelectasis. There was metabolic acidosis (pH 6.99), lactic acidemia (21 mmol/L), and hyperalaninemia (1.226 mmol/L). He died at 36 hours. Activities of electron transport chain enzymes were markedly reduced in muscle, while in the liver there was only a mild reduction of complex I. There was a severe depletion of mitochondrial DNA in muscle while that of the liver was normal.
Genitourinary problems
Published in Janet M Rennie, Giles S Kendall, A Manual of Neonatal Intensive Care, 2013
Janet M Rennie, Giles S Kendall
Renal malformations are identified by antenatal ultrasound in about 1:800 pregnancies; about a fifth of childhood renal malformations are now detected this way. The most common problem identified antenatally is dilatation of the renal tract, but renal agenesis, malpositioned or multicystic kidneys are also found. All babies with an antenatally diagnosed problem should have a renal ultrasound scan within a week, and if the antenatal dilatation of the renal pelvis (pyelectasis) was 15 mm or more this scan should be done urgently, before the baby goes home from the maternity unit. This serves to identify those babies with problems who require early intervention, for example those with urethral valves. The yield of investigating babies with prenatal dilatation of the renal tract (pyelectasis) is as follows:
Neonatal Acute Liver Failure Associated with Angioinvasive Hepatic Zygomycosis
Published in Fetal and Pediatric Pathology, 2019
Suvradeep Mitra, Somosri Ray, Gurwinder Kaur, Praveen Kumar, Harsimran Kaur, Uma Saikia
A term male child, a product of non-consanguineous marriage weighing 3.6 kg was born by lower segment cesarean section (LSCS) to a 32-year-old G2P1001 mother having pregnancy-induced hypertension requiring labetalol since second trimester. The indication of LSCS was previous LSCS and an unwillingness of the mother for vaginal delivery. There was a history of mucoid vaginal discharge two days before the delivery. TORCH screening and HIV serology were negative in the mother. Antenatal ultrasonography revealed normal organogenesis of the child with mild bilateral pyelectasis. The baby cried at birth and was started on exclusive breastfeeding.
Characteristics of prenatally detected right aortic arch cases in a single institution
Published in Journal of Obstetrics and Gynaecology, 2018
Melih Velipasaoglu, Metin Sentürk, Reyhan Ayaz, Barbaros Atesli, H. Mete Tanir
The only foetus with associated major intra- and extra-cardiac anomalies was diagnosed with trisomy 21 after cordocentesis. Other foetuses with minor anomalies (mild pyelectasia and single umbilical artery) were not associated with aneuploidies or 22q11.2 microdeletion. All patients have had live births, except one patient, who has opted for the termination of pregnancy for 22q11.2 microdeletion.
Prenatal Detection of Vesico-Allantoic Cyst: Ultrasound and Autopsy Findings
Published in Fetal and Pediatric Pathology, 2023
Maria Paola Bonasoni, Giuseppina Comitini, Ottavia Cavicchioni, Veronica Barbieri, Giulia Dalla Dea, Andrea Palicelli, Lorenzo Aguzzoli
Bilateral pyelectasis with ureter dilatation were adverse findings as they probably reflected an initial lower urinary tract obstruction. Although hydronephrosis has been scarcely described in cases of patent urachus and allantoic cyst [15,27], it resolved before birth or just after postnatal surgery. Allantoic cyst disappeared during pregnancy and amniotic fluid volume was not affected.