Antenatal Presentation Research Articles

Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.

Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists.

Neurocutaneous melanocytosis: A case report with antenatal presentation

Neurocutaneous melanocytosis: A case report with antenatal presentation

Case report: Pupil sparing third nerve palsy in an immunocompetent host – A rare sequelae of congenital ocular toxoplasmosis

We share a case of a 20 yr old female who presented with drooping of left upper eyelid with down and outward deviation of left eye since birth and diminution of vision in left eye noticed since 2 yrs with retinal abnormalities suggestive of congenital ocular toxoplasmosis. The clinical and complementary examinations of the case are discussed. Ocular toxoplasmosis remains to be the most common cause of infectious posterior uveitis in immunocompetent and immunocompromised individuals with highly variable prognosis. A precise diagnosis of the disease is necessary to opt effective and rapid treatment. Hence, It is essential that clinicians be aware of antenatal and postnatal presenting signs and symptoms, as early diagnosis and treatment will minimise the possibility of sequelae as majority of affected infants may develop chorioretinitis, deafness and/or neurological symptoms if left untreated.

The magnitude and determinants of delayed initiation of antenatal care among pregnant women in Gambia; evidence from Gambia demographic and health survey data

BackgroundDespite gains throughout the 20th century, maternal health remains a major public health concern. Despite global efforts to enhance access to maternal and child healthcare services, women in low- and middle-income countries still have a high risk of dying during pregnancy and after birth. This study aimed to determine the magnitude and determinants of late antenatal care initiation among reproductive age women in Gambia.MethodSecondary data analysis was conducted using the 2019-20 Gambian demographic and health survey data. All reproductive age women who gave birth in the five years preceding the survey and who had an antenatal care visit for the last child were included in this study. The total weighted sample size analyzed was 5310. Due to the hierarchical nature of demographic and health survey data, a multi-level logistic regression model was performed to identify the individual and community level factors associated with delayed first antenatal care initiation.ResultIn this study, the prevalence of delayed initiation of initial antenatal care was 56% ranged from 56 to 59%. Women with age 25–34 [Adjusted Odds Ratio = 0.77; 95% CI 0.67–0.89], 35–49 [Adjusted Odds Ratio = 0.77; 95% CI 0.65–0.90] and women reside in urban area [Adjusted Odds Ratio = 0.59; 95% CI 0.47–0.75] respectively had lower odds of delayed first antenatal care initiation. While women with unplanned pregnancy [Adjusted Odds Ratio = 1.60; 95% CI 1.37–1.84], no health insurance [Adjusted Odds Ratio = 1.78; 95% CI 1.14–2.76] and previous history of cesarean delivery [Adjusted Odds Ratio = 1.50; 95% CI 1.10–2.07] had higher odds of delayed initiation of antenatal care.ConclusionDespite the established advantages of early antenatal care initiation, this study revealed that late antenatal care initiation is still common in Gambia. Unplanned pregnancy, residence, health insurance, history of caesarian delivery, and age were significantly associated with delayed first antenatal care presentation. Therefore, focusing extra attention on these high-risk individuals could reduce delayed first antenatal care visit and this further minimizes maternal and fetal health concerns by recognizing and acting early.

Antenatal Hyperechogenic Colon and Cystinuria.

A male newborn was investigated for history of antenatal hyperechogenic colon (HEC) detected at 32 weeks of gestation. In the first week of life, urinary ultrasonography showed nephrolithiasis. Urinary amino acid analysis expressed increased excretion of dibasic amino acids, and high urinary cystine levels were detected in both spot and 24-hour urine specimens. He was diagnosed as cystinuria, and genetic analysis of the patient revealed a heterozygous mutation in SLC7A9 gene. Antenatal presentation of cystinuria with HEC is rare and reported to be associated with a more severe disease course.

Maternal and Neonatal Outcome of Women Having Decreased Fetal Movements in The Third Trimester of Pregnancy: A Cross-Sectional Study

Every year, 2.6 million newborns are stillborn throughout the world. Objective: To determine the obstetric and neonatal outcomes among women presenting with reduced fetal movements in the third trimester of pregnancy. Methods: The pregnant women were in the low as well as a high-risk category. The pregnant women were advised to count 3 times a day post-meal or use the Count to 10 techniques to track their fetal movements in the third-trimester phase. The antenatal presentation was documented, blood pressure was taken, and a comprehensive BPP was performed All perinatal outcomes were documented, involving both pregnancies that continued as well as deliveries that occurred at a later gestational age. Results: A total of 110 pregnant women with reduced fetal movement (RFM) were taken as a part of this research. The average age was 35 years. A total of 56 were from the high-risk category while 54 were from the low-risk category. Out of 49% (n= 54) women, 15 women were more sensitive to the subjective experience of RFM due to factors such as an anterior placenta, overweight, as well as increased maternal stress. Out of 56 high-risk category women, 15 women revealed an abnormality in the volume of liquor. While on the other hand, out of 54 low-risk category women, 8 showed less prevalence of abnormal liquor volume. Conclusions: High-risk pregnancies accounted for a considerable percentage of individuals having RFM. Comparing the high-risk category with the low-risk category reveals that the rising incidence of stillbirth as well as low BPP were present at the time pregnant women were admitted.

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency

Introduction: Antenatal presentation of hypertrophic cardiomyopathy (HCM) is rare. We describe familial recurrence of antenatal HCM associated with intrauterine growth restriction and the diagnostic process undertaken. Methods: Two pregnancies with antenatal HCM were followed up. Biological assessment including metabolic analyses, genetic analyses, and respiratory chain study was performed. We describe the clinical course of these two pregnancies, antenatal manifestations as well as specific histopathological findings, and review the literature. Results: The assessment revealed a deficiency in complex I of the respiratory chain and two likely pathogenic variations in the ACAD9 gene. Discussion and Conclusion: Antenatal HCM is rare and a diagnosis is not always made. In pregnancies presenting with cardiomyopathy and intrauterine growth restriction, ACAD9 deficiency should be considered as one of the potential underlying diagnoses, and ACAD9 molecular testing should be included among other prenatal investigations.

Sotos syndrome: A study of antenatal presentation

ObjectiveTo determine the fetal ultrasound findings associated with Sotos syndrome caused by deletions at 5q35 including the NSD1 and a point mutation in this gene. Study designThis was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory data were collected and reviewed for these cases. ResultsTwo cases had no significant fetal abnormalities, and were only diagnosed after birth. One case presented in the first trimester with increased nuchal translucency. The remaining five fetuses were identified at late gestation. One of the five fetuses presented in the second trimester with mild ventriculomegaly, and four in the third trimester with mild ventriculomegaly, macrocephaly and polyhydramnios. CMA was done on all cases and revealed 5q35 deletions in seven cases, and WES detected a maternally inherited NSD1 variant in one case. ConclusionThe fetal ultrasound findings in cases with Sotos syndrome, associated with deletions at 5q35 and a point mutation in the NSD1 are not specific with the most common finding being mild ventriculomegaly.

Preterm twins with antenatal presentation of Pearson syndrome

Abstract Objectives Pearson syndrome is a mitochondrial cytopathy with multisystemic involvement that typically presents in infancy and has poor prognosis. We aim to present a case that is distinct due to the timing of presentation and associated anomalies. Case presentation We report the case of preterm monochorionic twins with transfusion dependent fetal anemia that had post-natal multisystem dysfunction which led to the diagnosis of Pearson syndrome. Conclusions This case highlights the possibility of antenatal presentation of Pearson syndrome, which should be considered in cases of severe fetal anemia without an apparent cause.

VP20.08: Antenatal presentation of tuberous sclerosis with left ventricular outflow obstruction

A 29-year-old G2 P1 visited for third trimester scan at 31 W 0 D. Earlier scans were normal. No history of congenital anomalies in previous child. Both parents were normal. At the 31W 0D scan, few hyperechoic nodules were noted in both ventricles of the fetal heart. Few ill-defined hyperechoic nodules were also noted in bilateral frontal and bilateral parietal lobes of fetal brain. Follow up scan at 36W 1D revealed significant increase in fetal cardiac lesions with bilateral ventricles studded with multiple nodules. Both free walls and interventricular septum were involved on either side. A large nodule measuring ∼ 1.5 cm was seen in subaortic region of interventricular septum causing obstruction of the left ventricular outflow tract, with aortic valve measuring ∼ 3.1 mm (Z score of – 5.57) and high PSV. No arrhythmias. Cardiac function was normal. The cerebral lesions showed mild regression. No evidence of hydrops fetalis. The cardiac lesions were considered to be rhabdomyomas and the brain lesions were considered to be cortical tubers leading to diagnosis of tuberous sclerosis. The baby was born at 38+3 weeks by SVD, weighing 3630 gm. No resuscitation was required but the baby was kept under observation in NICU for three days. Clinical examination revealed ejection systolic murmur and multiple ash leaf macules. Neonatal echo and postnatal MRI brain confirmed the antenatal findings.

High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1

ObjectivesOsteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; extra-skeletal features in OI include blue sclerae, dentinogenesis imperfecta, skin laxity and joint hyper-extensibility. Most patients with OI are thought to have a low bone mass but contrary to expectations there are certain forms of OI with high bone mass which this study explores in further detail. MethodA cohort of n = 6 individuals with pathogenic variants in BMP1 and the C-propeptide cleavage variants in COL1A1 were included in this study. Detailed clinical and radiological phenotyping was done and correlated with genotype to identify patterns of clinical presentation and fracture history in this cohort of patients. This data was compared to previously reported literature in this group. Results2 patients with BMP1 and 4 patients with pathogenic variants in C-propeptide region in COL1A1 were deep-phenotyped as part of this study and 1 patient with C-propeptide variant in COL1A1, showed low bone mineral density. In those with an elevated bone mineral density, this became even more apparent on bisphosphonate therapy. Patients in this cohort had variable clinical presentation ranging from antenatal presentation to more of an insidious course resulting in later confirmation of genetic diagnosis up to 19 years of age. ConclusionsPatients with pathogenic variants in the C-propeptide region of COL1A1/A2 and BMP1 appear to have a high bone mass phenotype with increased sensitivity to bisphosphonate therapy. It is important to closely monitor patients with these genotypes to assess their response to therapy and tailor their treatment regime accordingly.

Prediabetes and pregnancy: Early pregnancy HbA1c identifies Australian Aboriginal women with high-risk of gestational diabetes mellitus and adverse perinatal outcomes

AimsTo assess whether early pregnancy HbA1c can predict gestational diabetes mellitus (GDM) and adverse birth outcomes in Australian women. MethodsProspective study of 466 women without diabetes, aged ≥16-years at first antenatal presentation. Recruitment was from 27 primary healthcare sites in rural and remote Australia from 9-January 2015 to 31-May 2018. HbA1c was measured with first antenatal investigations (<20-weeks gestation). Primary outcome measure was predictive value of HbA1c for GDM, by routine 75 g oral glucose tolerance test (OGTT; ≥24-weeks gestation), and for large-for-gestational-age (LGA) newborn. ResultsOf 396 (129 Aboriginal) women with routine OGTT, 28.8% had GDM (24.0% Aboriginal). HbA1c ≥5.6% (≥38 mmol/mol) was highly predictive (71.4%, 95% CI; 47.8–88.7%) for GDM in Aboriginal women, and in the total cohort increased risk for LGA newborn (RR 2.04, 95% CI; 1.03–4.01, P = 0.040). There were clear differences between Aboriginal and non-Aboriginal women: 16.3% v 5.2% (P < 0.001) had elevated HbA1c whereas 12.4% v 29.6% (P < 0.001) developed hyperglycemia during pregnancy. ConclusionsEarly pregnancy HbA1c ≥5.6% (≥38 mmol/mol) identifies Aboriginal women with apparent prediabetes and elevated risk of having an LGA newborn. Universal HbA1c at first antenatal presentation could facilitate earlier management of hyperglycemia and improved perinatal outcome in this high-risk population.

Prenatal Diagnosis and Postnatal Treatment in a Case of Abdominal Obstruction and Polyhydramnios Caused by Amniotic Band Sequence

Background: Amniotic band sequence (ABS) is a rare congenital disorder resulting from the entanglement of fetal parts by fibrous bands that may cause disruptions, deformations, or malformations that can range from mild to life threatening conditions. Prenatal diagnosis is usually based on ultrasounds visualization on amniotic bands attached to fetal parts, possibly causing fetal defects. Case Presentation: A 19-year-old woman with an unremarkable clinical history and a low-risk pregnancy was referred to our Fetal Therapy Unit for a suspected fetal clubfoot at 22 weeks gestational age. A chorioamniotic separation, together with unilateral clubfoot was diagnosed. Due to a high risk of premature rupture of membranes a decision was made not to perform amniocentesis for genetic investigation. At prenatal follow up progressive polyhydramnios developed with a preterm spontaneous rupture of the membranes at 34 weeks. After caesarean section – due to breech presentation – an amniotic band was observed at the abdominal level causing a circular skin lesion, constriction, and a sub-occlusive intestinal status. Moreover, a left clubfoot with amputation of distal phalanx of the second toe and a right foot amputation of 2nd and 3rd toes were evident. The neonate underwent abdominal plastic surgery on the second day of life with complete recovery. Following the postnatal diagnosis of ABS, we re-examined a stored fetal 3D ultrasound volume acquired at 22 weeks and, focusing on the fetal surface rendering, we could notice the deep abdominal skin furrow that was evident at birth. Discussion: This case represents an unusual antenatal presentation of an amniotic band sequence that escaped prenatal diagnosis with a progressive polyhydramnios as an indirect sign of fetal bowel obstruction caused by an abdominal constricting band. In the presence of chorioamniotic separation and additional ominous ultrasound findings, it is advisable to consider the possibility of an ABS.

POS-165 RENAL OUTCOMES IN PATIENTS PRESENTING TO A RENAL SERVICE WITH PROTEINURIA DURING PREGNANCY WHO WERE SUBSEQUENTLY BIOPSIED: 10 YEAR EXPERIENCE

We reviewed retrospectively all women whose initial referral to our renal service was with proteinuria during pregnancy and who went on to have a renal biopsy in the decade to January 2020. We describe the renal histology findings and renal outcomes. Case records were reviewed of women referred to our renal antenatal service in the 10 years to 1st January 2020 with unexplained proteinuria and subsequently biopsied. Only women were included where this was their first presentation to a nephrology service. The patients were reviewed by a single consultant nephrologist (MT) and managed jointly during pregnancy with a consultant obstetrician. All the renal biopsies and renal follow up were carried out by a single centre renal service. 11 women had a first renal review during pregnancy - 5 were South Asian, 5 Caucasian and 1 Afro-Carribean. The median age (range) 28 (16-36) years. Two out of 4 patients presenting before 16 weeks gestation were biopsied during pregnancy*, the remaining 9 had a renal biopsy a median of 10 (2-90) months after their antenatal presentation. Tabled 1Protein: creatinine ratio mg/mmolSerum Creatinine umol/lGestation(weeks)Time from presentation to biopsy (months)Renal histologyRenal outcome117173990Crescentic GN - ANCA positive (MPO)CKD 42144101289IgARRT3736451810FSGSCKD 14283592913IgACKD 35427633165IgACKD 367543715*<1Membranous GNRecovery71196589*<1Minimal ChangeRecovery8452741519Diabetic NephropathyRRT923650296IgACKD 51011691342IgACKD 21132**502524IgACKD 1∗∗albumin: creatinine ratio mg / mmol at 14 weeks gestation Open table in a new tab ∗∗albumin: creatinine ratio mg / mmol at 14 weeks gestation Two patients with stable renal disease for more than 5 years were biopsied because of deteriorating renal function with the second also having positive ANCA (MPO) serology, 65 and 90 months post antenatal presentation. Although all except one patient had a normal antenatal serum creatinine - after a median of 75 (11-106) months follow up 2 patients were receiving renal replacement therapy (RRT), 6 had CKD and 2 had made a full renal recovery (see Table). The commonest histological diagnosis was IgA nephropathy which was present in 6 patients (55%) and 5 of these had evidence of progressive CKD. IgA is the commonest primary glomerulonephritis with a peak incidence in the 2nd and 3rd decades1 and is common in women receiving obstetric care2. Data on long term renal outcomes of women with primary renal disease are sparse. In this centre, for women presenting antenatally with the initial signs of renal disease, IgA nephropathy was the most frequent histological diagnosis and the renal outcomes were variable.

Cost-effectiveness of community health systems strengthening: quality improvement interventions at community level to realise maternal and child health gains in Kenya

IntroductionImprovements in maternal and infant health outcomes are policy priorities in Kenya. Achieving these outcomes depends on early identification of pregnancy and quality of primary healthcare. Quality improvement interventions have...

Antenatal Ovarian Torsion Presenting With Features of Intestinal Obstruction in a Neonate

With the advent of antenatal ultrasonography (USG), detection of neonatal intra-abdominal cystic lesions is on the rise. We present a neonate who was detected antenatally to have a cystic lesion per abdomen and presented with features of intestinal obstruction on first postnatal day. Emergency exploratory laparotomy revealed a left torsed ovarian cyst compressing the ileoceacal junction. Left oophorectomy was done and ovarian torsion was confirmed by histopathology examination. The USG abdomen at six months follow up showed a well visualised right ovary.

Hepatic Tumor as Antenatal Presentation of Costello Syndrome

A large hepatic mixed echoic mass occupying the left fetal abdomen was identified at 266/7 weeks. The mass showed peripheral and internal vascularity. Other ultrasound findings included edema of the fetal head and face, macrosomia, shortened long bones, abnormal posture of hands, small stomach, polyhydramnios and biventricular hypertrophy. Fetal magnetic resonance imaging confirmed a hypervascular mass replacing the lateral left hepatic lobe, suggestive of a congenital hemangioma. The fetus was delivered by cesarean section at 282/7 weeks. The baby was stabilized at day 3 of life, and underwent successful selective tumor embolization. The baby remained stable for 3 days, then deteriorated with a progressive thickening of the myocardium. The child then passed away on day 11 from severe progressive hypertrophic cardiomyopathy, with almost complete obliteration of the left ventricular cavity; an autopsy was declined. Postnatal investigations reported a de novo heterozygous pathogenic HRAS variant (NM_005343.3(HRAS): c.35_36 delinsTT, p.Gly21Val), previously reported in 8 cases associated with the early, lethal form of Costello syndrome.

Women's Views of and Responses to Maternity Services Rendered during Labor and Childbirth in Maternity Units in a Semi-Rural District in South Africa.

Facility-based delivery is an important strategy to prevent poor labor outcomes, and midwives are at the center of maternal care. However, disrespectful and abusive maternal care by midwives is prevalent and leads to poor antenatal care utilization and increased numbers of home deliveries. The objective of the study was to assess the views of women about the care they received during labor and childbirth and describe the interactions between the women and the midwives. This was a qualitative study using in-depth interviews with women who had delivered in midwife obstetric units at a district hospital in Tshwane District, South Africa. Twenty-six women aged 18–41 years, and had delivered within the previous six months were selected, using purposive sampling. A thematic content analysis approach and NVivo11 computer software were used to identify emergent themes. Most women had had negative experiences of the maternity services they had received during labor and childbirth. Shouting and rude remarks by midwives caused tension between the midwives and the women and had created a major barrier for communication. The abuse and disrespect that the women were subjected to had created a hostile and uncaring environment for them. They felt stressed, fearful, and anxious throughout labor and childbirth. In response to the hostile environment, they employed manipulative tactics such as pushing before time in the hope of getting attention. These acts resulted in punitive responses from the midwives who joined forces against them, reprimanded, or ignored them. Good interactions, described as being respectful, approachable, and polite, and the sharing of information yielded positive experiences of maternity care. The state of maternity services rendered during labor and childbirth is counterproductive to the existing plan of increasing early antenatal care bookings and presentation to the facilities for labor and childbirth. There is a need to retrain midwives in the respectful care of women during labor and childbirth to facilitate a change in their attitudes.

Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.

Bartter's syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle's loop. Literature reviews and original research articles were collected from database, including PubMed and Scopus. According to the time of onset and symptoms, BS can be classified into antenatal and classic BS. Molecular studies have identified different subtypes of BS. BS types I, II and III are caused by mutations on genes encoding the luminal Na+-K+-2Cl- co-transporter, the luminal K+ channel ROMK, and the basolateral chloride channel ClC-Kb (CLCNKB), respectively. Loss-of-function mutations of Barttin CLCNK type accessory beta subunit cause BS type IVa. Simultaneous mutations of CLCNKB and CLCNKA cause BS type IVb. BS type V consists in a novel transient form characterized by antenatal presentation due to mutations in the MAGE family member D2. Severe gain-of-function mutations of the extracellular calcium sensing receptor gene can result in an autosomal dominant condition of BS. Main clinical and biochemical alterations in BS include polyuria, dehydration, hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, high levels of prostaglandins, normal or low blood pressure, hypercalciuria and failure to thrive. Treatment focuses mainly at correcting dehydration and electrolyte disturbances and in measures to reduce polyuria, including the use of nonsteroidal anti-inflammatory medications to control excessive renal prostaglandin E2 production. Early diagnosis and treatment of BS may prevent long-term consequences such as growth failure, nephrocalcinosis and end-stage renal disease.

Challenging diagnosis of prune belly syndrome antenatally: a case report

BackgroundPrune belly syndrome is a rare congenital condition of uncertain etiology.It is characterized with a triad of abdominal distension due to deficient abdominal wall, genitourinary tract anomalies, and musculoskeletal anomalies. This condition varies in its severity which makes diagnosis challenging during early antenatal scanning.Case presentationWe reported a severe phenotype of prune belly syndrome which was not fully suspected in a 29-year-old Saudi woman was G4T2P0A1L2 at 21 weeks of gestation at the time of early antenatal presentation; however, it became apparent during diagnosis at a subsequent follow-up scan during advanced gestational age.ConclusionWe conclude that suspicion of such anomalies through an early antenatal scan require an urgent further follow-up scan in a tertiary center. The referral to the tertiary center must be to an experienced ultrasonographer and maternal–fetal medicine specialist for a decision to be made antenatally regarding the course of pregnancy and post-delivery management based on the severity of the condition.