OBJECTIVE: To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD). METHODS: Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq). RESULTS: The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23⁺⁴ weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq. CONCLUSION T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.
Female ; Humans ; Pregnancy ; Amniocentesis ; Chromosomes, Human, Pair 2/genetics* ; DNA Copy Number Variations ; Fetal Death ; Fetal Growth Retardation/genetics* ; Fetus ; Mosaicism ; Oligohydramnios ; Placenta ; Trisomy/genetics* ; Uniparental Disomy/genetics*

OBJECTIVE: To explore the clinical phenotype and genetic variants of a fetus with Glutaracidemia type II C (GA II C). METHODS: Clinical data of a 32-year-old pregnant woman and her fetus with GA II C diagnosed at the Third Affiliated Hospital of Zhengzhou University in December 2021 due to the enlargement and enhanced echo of the kidneys and oligohydramnios fluid at 17 weeks were analyzed retrospectively. Amniotic fluid sample of the fetus and peripheral blood samples of the couple were collected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Copy number variation (CNV) was detected by using low-coverage whole genome sequencing (CNV-seq). RESULTS: At 18 weeks' gestation, ultrasound revealed that the fetus had enlargement and enhanced echo of the kidneys along with no echo of renal parenchymal tubular fissure and oligohydramnios. MRI at 22 weeks' gestation confirmed that both kidneys were enlarged with uniformly increased abnormal T2 signal and decreased DWI signal. The volume of both lungs was small, with slightly higher T2 signal. No CNV was detected in the fetus. WES revealed that the fetus has harbored compound heterozygous variants of the ETFDH gene, namely c.1285+1G＞A and c.343_344delTC, which were inherited from its father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PM2_Supporting+PS3_Supporting; PVS1+PM2_Supporting+PM3). CONCLUSION The c.1285+1G＞A and c.343_344delTC compound heterozygous variants of the ETFDH gene probably underlay the disease in this fetus. Type II C glutaric acidemia may manifest as bilateral kidney enlargement with enhanced echo and oligohydramnios. Discovery of the c.343_344delTC has enriched the spectrum of ETFDH gene variants.
Pregnancy ; Humans ; Female ; Mutation ; DNA Copy Number Variations ; Oligohydramnios/genetics* ; Retrospective Studies ; Phenotype ; Fetus/diagnostic imaging*

OBJECTIVE: To explore the clinical features and genomic abnorm ality of a fetus enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation. METHODS: The fetuse was found to have multicystic dysplastic kidneys with oligohydramnios upon ultrasonography during the second trimester. Following induced abortion, fetal tissue was collected for the extraction of DNA, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Sanger sequencing was used to verify the suspected variants in the family. RESULTS: Antenatal ultrasound examination at 19 weeks showed "polycystic" kidneys with Oligohydramnios. Delivery was by induced labour because of the critically low amniotic fluid volume. Testing of CMA was normal. WES showed a compound heterozygous mutation of c.1817G>A, p.W606X; c.432dupA, p.E145Rfs*18 mutations are novel mutations in this study. CONCLUSION The research may further expand the NPHP3 gene mutation spectrum. Enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation at least include one or two splice site mutation, frameshift mutation or nonsense mutation foetal poor prognosis.
Amniotic Fluid ; Female ; Humans ; Kidney Diseases, Cystic ; Multicystic Dysplastic Kidney/genetics* ; Mutation ; Oligohydramnios/genetics* ; Polycystic Kidney Diseases ; Pregnancy ; Ultrasonography, Prenatal

BACKGROUNDS: At present, there is no consensus on the induction methods in term pregnancy with borderline oligohydramnios. This study aimed to compare the effectiveness and pregnancy outcomes of labor induction with dinoprostone or single-balloon catheter (SBC) in term nulliparous women with borderline oligohydramnios. METHODS: We conducted a retrospective cohort study from January 2016 to November 2018. During the study period, a total of 244 cases were enrolled. Of these, 103 cases were selected for induction using dinoprostone and 141 cases were selected for induction with SBC. The pregnancy outcomes between the two groups were compared. Primary outcomes were successful vaginal delivery rates. Secondary outcomes were maternal and neonatal adverse events. Multivariate logistic regression was used to assess the risk factors for vaginal delivery failure in the two groups. RESULTS: The successful vaginal delivery rates were similar between the dinoprostone group and the SBC group (64.1% [66/103] vs. 59.6%, [84/141] P = 0.475), even after adjustment for potential confounding factors (adjusted odds ratio [aOR]: 1.07, 95% confidence interval [CI]: 0.57-2.00, P = 0.835). The incidence of intra-amniotic infection was lower in the dinoprostone group than in the SBC group (1.9% [2/103] vs. 7.8%, [11/141] P < 0.001), but the presence of non-reassuring fetal heart rate was higher in the dinoprostone group than in the SBC group (12.6% [13/103] vs. 0.7%, [1/141] P < 0.001). Multivariate logistic regression showed that nuchal cord was a risk factor for vaginal delivery failure after induction with dinoprostone (aOR: 6.71, 95% CI: 1.96-22.95). There were three factors related to vaginal delivery failure after induction with SBC, namely gestational age (aOR: 1.51, 95% CI: 1.07-2.14), body mass index (BMI) >30 kg/m2 (aOR: 2.98, 95% CI: 1.10-8.02), and fetal weight >3500 g (aOR: 2.49, 95% CI: 1.12-5.50). CONCLUSIONS Term nulliparous women with borderline oligohydramnios have similar successful vaginal delivery rates after induction with dinoprostone or SBC, with their advantages and disadvantages. In women with nuchal cord, the risk of vaginal delivery failure is increased if dinoprostone is used in the induction of labor. BMI >30 kg/m2, large gestational age, and estimated fetal weight >3500 g are risk factors for vaginal delivery failure after induction with SBC.
Administration, Intravaginal ; Catheters ; Dinoprostone/therapeutic use* ; Female ; Fetal Weight ; Humans ; Infant, Newborn ; Labor, Induced/methods* ; Nuchal Cord ; Oligohydramnios ; Oxytocics ; Pregnancy ; Pregnancy Outcome ; Retrospective Studies

Amniotic fluid is an indicator of normal placental function and is essential for normal fetal lung maturation. Amniotic fluid index (AFI) is the most preferred method of amniotic fluid measurement in pregnancy although single deepest pocket (SDP) is also used. To measure AFI, the examiner divides the uterus into four equal quadrants. AFI is the sum of deepest pocket from each quadrant. The normal AFI ranges between 5~24 cm while any value above 24 cm is considered as hydramnios and that below 5 cm is indicated as oligohydramnios. An adequate volume of amniotic fluid is critical to allow normal fetal movement and growth, while also cushioning the fetus and umbilical cord. Regardless of the etiology, oligohydramnios may inhibit these processes and may lead to fetal deformation, umbilical cord compression, and death in some instances. Oligohydramnios can be due to underproduction, loss, or sometimes, isolated. Isolated oligohydramnios has been found to be responsive maternal hydration and is neither a malformation of the urinary system in the fetus, nor a rupture of amnion and due to genetic cause. The author would like to introduce a way to increase amniotic fluid volume in isolated oligohydramnios which is expect to improve the perinatal outcomes.
Amnion ; Amniotic Fluid ; Female ; Fetal Movement ; Fetus ; Lung ; Methods ; Oligohydramnios ; Polyhydramnios ; Pregnancy ; Rupture ; Umbilical Cord ; Uterus

BACKGROUND: Congenital muscular torticollis (CMT) is characterized by persistent head tilt toward the affected side. No consensus exists regarding the cause of this disorder. In this study, we analyzed various clinical factors in patients with CMT who were treated with surgical release. This analysis enabled us to identify potential causative factors of CMT and to establish a basis for surgical interventions. METHODS: In total, 584 patients who underwent surgical intervention for CMT from October 2007 to December 2016 were included in this study. Their demographic characteristics, birth-related factors, and clinical features were analyzed. RESULTS: Data from 525 patients were analyzed in this study after exclusion of those with insufficient information. Before birth, 31 patients (5.9%) were diagnosed with oligohydramnios, and 87 (16.6%) had a breech presentation. Seven (1.3%) cases of clavicle fracture and two (0.4%) cases of cephalohematoma were noted at birth. Before surgery, 397 patients (75.6%) underwent physiotherapy and 128 patients (24.4%) did not. The duration of physiotherapy ranged from 1 to 50 months (average, 6 months). CONCLUSIONS: Our study shows that 16.6% of the CMT patients presented in the breech position, which is a much higher rate than that observed in the general population (3%–4%). We hypothesize that being in the breech position as a fetus appears to exert a significant influence on shortening and fibrosis of the sternocleidomastoid muscle.
Breech Presentation ; Clavicle ; Consensus ; Female ; Fetus ; Fibrosis ; Head ; Humans ; Oligohydramnios ; Parturition ; Pregnancy ; Retrospective Studies ; Torticollis

PURPOSE: We report 3 cases of patients with retinal hemorrhage among 27 newborns with intrauterine growth retardation. CASE SUMMARY: Twenty-seven newborns with intrauterine growth retardation were examined using the indirect ophthalmoscope for confirming retinal hemorrhage which was observed in 3 patients. The mean gestational age and birth weight (g) of the 3 patients were 37⁺⁶ weeks and 2,086.7 g, respectively. Among the 3 newborns, 1 patient's mother had oligohydramnios. Two patients were delivered vaginally and 1 by cesarean section. All 3 patients had no birth trauma and the retinal hemorrhage was resolved within 2 weeks after the first eye examination. CONCLUSIONS: We observed 3 cases with retinal hemorrhage in neonates with intrauterine growth retardation which improved within 2 weeks.
Birth Weight ; Cesarean Section ; Female ; Fetal Growth Retardation ; Gestational Age ; Humans ; Incidence* ; Infant, Newborn* ; Korea* ; Mothers ; Oligohydramnios ; Ophthalmoscopes ; Parturition ; Pregnancy ; Retinal Hemorrhage* ; Retinaldehyde*

OBJECTIVES: The present study was undertaken to study the maternal risk factors for preterm birth (PTB) and low birth weight (LBW) with a special emphasis on assessing the proportions of maternal genitourinary and periodontal infections among Indian women and their association with adverse pregnancy outcomes. METHODS: A hospital-based prospective study comprising 790 pregnant women visiting the obstetrics clinic for a routine antenatal check-up was undertaken. Once recruited, all study participants underwent clinical and microbiological investigations for genitourinary infections followed by a dental check-up for the presence of periodontitis. The study participants were followed up until their delivery to record the pregnancy outcomes. Infectious and non-infectious risk factors for PTB and LBW were assessed using univariate and multivariate Cox regression analysis. Independent risk factors for PTB and LBW were reported in terms of adjusted relative risk (ARR) with the 95% confidence interval (CI). RESULTS: Rates of PTB and LBW in the study population were 7.6% and 11.4%, respectively. Previous preterm delivery (ARR, 5.37; 95% CI, 1.5 to 19.1), periodontitis (ARR, 2.39; 95% CI, 1.1 to 4.9), Oligohydramnios (ARR, 5.23; 95% CI, 2.4 to 11.5), presence of Nugent’s intermediate vaginal flora (ARR, 2.75; 95% CI, 1.4 to 5.1), gestational diabetes mellitus (ARR, 2.91; 95% CI, 1.0 to 8.3), and maternal height <1.50 m (ARR, 2.21; 95% CI, 1.1 to 4.1) were risk factors for PTB, while periodontitis (ARR, 3.38; 95% CI, 1.6 to 6.9), gestational hypertension (ARR, 3.70; 95% CI, 1.3 to 10.8), maternal height <1.50 m (ARR, 2.66; 95% CI, 1.3 to 5.1) and genital infection during later stages of pregnancy (ARR, 2.79; 95% CI, 1.2 to 6.1) were independent risk factors for LBW. CONCLUSIONS: Our study findings underscore the need to consider screening for potential genitourinary and periodontal infections during routine antenatal care in developing countries.
Bacteriuria ; Developing Countries ; Diabetes, Gestational ; Female ; Humans ; Hypertension, Pregnancy-Induced ; Infant, Low Birth Weight* ; Infant, Newborn ; Mass Screening ; Obstetrics ; Oligohydramnios ; Periodontitis ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Premature Birth* ; Prospective Studies* ; Risk Factors* ; Vaginosis, Bacterial

PURPOSE: This study was conducted to explore relationships of postpartum depression with socio-demographic and clinical characteristics of preterm infants and mothers. METHODS: Participants were the mothers of 80 premature infants admitted to neonatal intensive care units. Postpartum depression was measured using the Edinburg Postnatal Depression Scale (EPDS). Clinical characteristics were examined through the medical records. The physiological state for the infants was evaluated using the revised Neurobiologic Risk Score (NBRS). Data were analyzed using the t-test, ANOVA, and Pearson correlation coefficients. RESULTS: Average for EPDS was 9.75+/-5.06, and 30% of the participants were at high risk for postpartum depression. There were significant differences in postpartum depression according to mother's education level (F=3.493, p=.035), economic state (F=5.828, p=.004), multiple pregnancy (t=2.141, p=.037), chorioamnionitis (t=2.349, p=.021), oligohydramnios (t=-2.226, p=.029), broncho-pulmonary dysplasia (t=2.085, p=.040), germinal matrix hemorrhage (t=2.259, p=.027), and revised NBRS (t=-2.772, p=.007). There was a significant positive correlation between postpartum depression and number of health problem of infants (r=.252, p=.024) and revised NBRS (r=.316, p=.004). CONCLUSION: As 30% of the mothers with preterm infants were at high risk for postpartum depression, they require attention. When providing interventions, socioeconomic status as well as the physiological state of premature infants should be considered.
Chorioamnionitis ; Depression, Postpartum* ; Education ; Female ; Hemorrhage ; Humans ; Infant ; Infant, Newborn ; Infant, Premature* ; Intensive Care Units, Neonatal ; Medical Records ; Mothers* ; Oligohydramnios ; Pregnancy ; Pregnancy, Multiple ; Social Class

Antenatal hydronephrosis (ANH) is one of the most common abnormal findings detected on prenatal ultrasound (US), and it has been reported in 1-5% of all pregnancies. The likelihood of significant postnatal pathologic abnormality in the urinary tract correlates with the degree of anterior-posterior diameter (APD) according to the gestational age. Detection of urologic anomalies prenatally permits fetal interventions that avoid complications in rare cases of bladder outlet obstruction with oligohydramnios even though their final benefits still remain controversial. There is no clear consensus on the extent and mode of postnatal imaging after a diagnosis of ANH. US is the mainstay of the postnatal evaluation and helps guide further testing with voiding cystourethrography (VCUG) and diuretic renography. Although most algorithms continue to recommend generous VCUG for identification of lower urinary tract anomalies, VCUG may be safely reserved for high grade ANH cases or any grade of ANH with dilated distal ureter without increasing the risk of urinary tract infection (UTI). There are conflicting studies about efficacy of postnatal prophylactic antibiotics. It still seems reasonable to consider use of a prophylactic antibiotic to prevent infant UTIs in high-risk populations, such as females and uncircumcised males with high grades of hydronephrosis, hydroureteronephrosis, or vesicouretral reflux.
Anti-Bacterial Agents ; Child ; Consensus ; Diagnosis ; Diagnostic Imaging ; Female ; Gestational Age ; Humans ; Hydronephrosis* ; Infant ; Male ; Oligohydramnios ; Pregnancy ; Prenatal Diagnosis ; Radioisotope Renography ; Ultrasonography ; Ureter ; Urinary Bladder Neck Obstruction ; Urinary Tract ; Urinary Tract Infections