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Cureus May 2024This case report describes a rare presentation of a bicornuate bicollis uterus with a longitudinal vaginal septum in a 25-year-old woman presenting with a ruptured...
This case report describes a rare presentation of a bicornuate bicollis uterus with a longitudinal vaginal septum in a 25-year-old woman presenting with a ruptured ectopic pregnancy. The patient's obstetric history revealed a previous cesarean section due to oligohydramnios. The diagnosis was confirmed through intraoperative assessment and MRI findings. Despite successful management of the ectopic pregnancy, the case underscores the importance of early detection and tailored management of Mullerian anomalies to optimize pregnancy outcomes. This report highlights the need for continued research to improve diagnostic accuracy and therapeutic approaches for such complex anatomical variations.
PubMed: 38903298
DOI: 10.7759/cureus.60645 -
British Journal of Clinical Pharmacology Jun 2024The aim of the study is to report the clinical and pharmacological observations from a pregnant patient treated with erlotinib in the second and third trimesters of...
AIMS
The aim of the study is to report the clinical and pharmacological observations from a pregnant patient treated with erlotinib in the second and third trimesters of pregnancy.
METHODS
Maternal and neonatal blood levels and safety of erlotinib and its metabolites were evaluated. Child development was monitored for 6 years.
RESULTS
A 31-year-old woman with stage IV lung adenocarcinoma with EGFR exon19 deletion began treatment with erlotinib 150 mg/day at 17 weeks of gestation. Although foetal growth retardation and oligohydramnios were observed at several times during the pregnancy, treatment was continued due to the severity of the maternal presentation, with ongoing foetal monitoring. The foetus seemed to tolerate and recover well without specific interventions. A healthy baby boy was delivered at 37 weeks gestation. The child grew and developed without any obvious issues. At last follow-up, at age 6 years, he was attending school at a grade appropriate for his age without health or developmental problems. Blood levels of erlotinib were 397-856 ng/mL at 18-37 weeks of gestation and 1190 ng/mL at 8 weeks postpartum. The blood concentration ratios of OSI-413-to-erlotinib ranged from 0.167 to 0.253 at 18-37 weeks of gestation, excluding 24 weeks, and 0.131 at 8 weeks postpartum. The maternal-to-foetal transfer rate of erlotinib, OSI-420 and OSI-413 were 24.5, 34.8 and 20.3%, respectively.
CONCLUSION
Erlotinib use during the second and third trimester of pregnancy did not seem to cause any untoward effects on the developing foetus, or any long-lasting effects that could be detected during 6 years of follow-up of the child.
PubMed: 38889797
DOI: 10.1111/bcp.16120 -
The Journal of Pediatrics Jun 2024To assess the long-term outcome of renal oligohydramnios and risk factors for fetal, neonatal, and postneonatal death.
OBJECTIVE
To assess the long-term outcome of renal oligohydramnios and risk factors for fetal, neonatal, and postneonatal death.
STUDY DESIGN
This retrospective cohort study included fetuses with prenatally detected renal oligohydramnios between 2002 and 2023. Patients who were lost to follow-up were excluded. Fetal, neonatal, and long-term outcomes were evaluated, and their risk factors were analyzed.
RESULTS
Of 131 fetuses with renal oligohydramnios, 46 (35%) underwent a termination of pregnancy, 11 (8%) had an intrauterine fetal death, 26 (20%) had a neonatal death, nine (7%) had a postneonatal death, and 39 (30%) survived. Logistic regression analyses showed that an earlier gestational age at onset (odds ratio 1.16, 95% confidence interval (CI) 1.01-1.37) was significantly associated with intrauterine fetal death; anhydramnios (odds ratio 12.7, 95% CI 1.52-106.7) was significantly associated with neonatal death as a prenatal factor. Although neonatal survival rates for bilateral renal agenesis, bilateral multicystic dysplastic kidney (MCDK), and unilateral MCDK with contralateral renal agenesis were lower than for other kidney diseases, one case of bilateral renal agenesis and two of bilateral MCDK survived with fetal intervention. Kaplan-Meier overall survival rates were 57%, 55%, and 51% for 1, 3, and 5 years, respectively. In the Cox proportional hazards model, birth weight <2000 g (hazard ratio 7.33, 95% CI 1.48-36.1) and gastrointestinal comorbidity (hazard ratio 4.37, 95% CI 1.03-18.5) were significant risk factors for postneonatal death.
CONCLUSION
Long-term survival following renal oligohydramnios is a feasible goal and its appropriate risk assessment is important.
PubMed: 38880380
DOI: 10.1016/j.jpeds.2024.114151 -
Cureus May 2024Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the polycystic kidney and hepatic disease-1 (PKHD1) gene and is an important inherited...
Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the polycystic kidney and hepatic disease-1 (PKHD1) gene and is an important inherited cause of chronic kidney disease in children. The most typical presentations in neonates are massively enlarged kidneys with variable echogenicity, multiple small cysts, and congenital hepatic fibrosis. Potter sequence with pulmonary hypoplasia can present due to oligohydramnios. Severe pulmonary hypoplasia can lead to respiratory insufficiency and perinatal death. Some affected children can develop end-stage renal disease in early childhood or adolescence. Here, we report the clinical presentations, management, and renal outcomes of three neonatal cases of ARPKD from our center.
PubMed: 38854310
DOI: 10.7759/cureus.59993 -
Journal of Family & Reproductive Health Dec 2023The outcomes and management of low amniotic fluid index (AFI) in pregnancy are controversial. The purpose of this study was to determine the relationship between low AFI...
OBJECTIVE
The outcomes and management of low amniotic fluid index (AFI) in pregnancy are controversial. The purpose of this study was to determine the relationship between low AFI and perinatal outcomes.
MATERIALS AND METHODS
This prospective study was conducted on 420 uncomplicated singleton pregnant women with a gestational age of over 28 weeks who referred to Al-Zahra Hospital in Rasht (Iran) for routine perinatal care. Pregnant women were divided into 3 groups of 140 patients based on the AFI and were followed up until delivery. Three groups included normal (8
oligohydramnios (AFI≤5cm) AFI. RESULTS
The three adverse outcomes of respiratory distress, hospitalization in NICU, and length of hospitalization were statistically significantly different between the two groups with normal and borderline AFI and in the borderline group was more than the normal group. Adverse outcomes including; low birth weight (LBW), small for gestational age (SGA), respiratory distress, 1- min APGAR scores<7, hospitalization in NICU and its duration were statistically significantly different between the two groups with normal AFI and oligohydramnios, and it was more in the oligohydramnios group than the normal group. The three adverse outcomes of LBW, SGA and1- min APGAR scores<7 in the two borderline and oligohydramnios groups had statistically significant differences and were more in the oligohydramnios group than the borderline group.
CONCLUSION
Consideration to the AFI in perinatal care to predict adverse perinatal outcomes and perform necessary interventions to improve these outcomes is necessary.
PubMed: 38807617
DOI: 10.18502/jfrh.v17i4.14591 -
Discovery Medicine May 2024High-risk human papillomavirus (HR-HPV) infection is the primary reason for cervical cancer and precancerous lesions in females. Specific immune alterations in pregnancy... (Observational Study)
Observational Study
Genotype Distribution and Prevalence of High-Risk Human Papillomavirus among Pregnant Women and Maternal-Fetal Pregnancy Outcomes in a Tertiary Hospital in Beijing, China.
BACKGROUND
High-risk human papillomavirus (HR-HPV) infection is the primary reason for cervical cancer and precancerous lesions in females. Specific immune alterations in pregnancy led to greater HR-HPV replication and reduced clearance of HR-HPV infection. This study retrospectively obtained and analyzed data from a tertiary hospital in Beijing, China. We aimed to ascertain both the genotype distribution and prevalence of HR-HPV in pregnant females. Moreover, we sought to analyze the association of HR-HPV with maternal-fetal pregnancy outcomes.
METHODS
The retrospective observational cohort study was divided into two parts. Part I evaluated the genotype distribution and prevalence of HR-HPV. It encompassed 6285 pregnant women who underwent a routine pregnancy check-up, Thin Prep cytology test (TCT), and HR-HPV diagnosis during weeks 12-14 of gestation between January 1, 2013, and December 31, 2021. Part II analyzed the association between HR-HPV infection and maternal-fetal pregnancy outcome. Through a nearest-neighbor 1:1 propensity score matching (PSM), we matched HR-HPV-positive and HR-HPV-negative pregnant women using caliper width equal to 0.02. After PSM, 171 HR-HPV-positive and 171 HR-HPV-negative pregnant women were included to analyze the association between HR-HPV infection and maternal-fetal pregnancy outcome.
RESULTS
In total 737 (11.73%) pregnant women were HR-HPV positive. The five most common genotypes of HR-HPV were HPV-52 (2.90%), HPV-58 (2%), HPV-16 (1.94%), HPV-51 (1.38%), and HPV-39 (1.29%). As for age-specific HPV prevalence, a "U-shaped" pattern was observed. The first and second peaks were detected in pregnant females aged <25 years and those aged ≥35 years, respectively. Our study found no significant difference between the HR-HPV-positive and the HR-HPV-negative pregnant females in the following maternal-fetal pregnancy outcomes: spontaneous abortion (1.2% for HR-HPV positive, 0% for HR-HPV negative, = 0.478), preterm delivery (4.7% for HR-HPV positive, 5.3% for HR-HPV negative, = 0.804), premature rupture of membrane (28.8% for HR-HPV positive, 22.8% for HR-HPV negative, = 0.216), preeclampsia (7.6% for HR-HPV positive, 7.6% for HR-HPV negative, = 1), oligohydramnios (8.2% for HR-HPV positive, 7% for HR-HPV negative, = 0.683), fetal growth restriction (1.8% for HR-HPV positive, 0.6% for HPV negative, = 0.615), placenta previa (1.2% for HR-HPV positive, 0.6% for HR-HPV negative, = 1), postpartum hemorrhage (8.9% for HR-HPV positive, 11.2% for HR-HPV negative, = 0.47). There was also no significant difference in delivery mode or birth weight between the two groups.
CONCLUSIONS
HPV-16, 52, and 58 were the most prevalent infection genotypes in pregnant females. The study showed no significant differences between HR-HPV-positive and HR-HPV-negative groups in the maternal-fetal pregnancy outcomes.
Topics: Humans; Female; Pregnancy; Adult; Papillomavirus Infections; Retrospective Studies; Tertiary Care Centers; Prevalence; Pregnancy Outcome; Genotype; Papillomaviridae; Pregnancy Complications, Infectious; Beijing; China; Young Adult; Human Papillomavirus Viruses
PubMed: 38798257
DOI: 10.24976/Discov.Med.202436184.91 -
American Journal of Medical Genetics.... May 2024Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays,...
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non-immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c.158A>G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in ACTB (c.826G>A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.
PubMed: 38789278
DOI: 10.1002/ajmg.a.63719 -
Medicine May 2024Developmental dysplasia of the hip (DDH) is a broad-spectrum disorder. Early diagnosis and treatment are important for improved prognosis and a lower risk of long-term...
The usefulness of universal ultrasound before hospital discharge for early diagnosing hip dysplasia in Korean neonates with breech presentation in a single center: A retrospective study.
Developmental dysplasia of the hip (DDH) is a broad-spectrum disorder. Early diagnosis and treatment are important for improved prognosis and a lower risk of long-term complications. Selecting high-risk infants is important for the early diagnosis of DDH using ultrasonography; however, there are no standard international guidelines. This study aimed to identify the usefulness of universal ultrasound before hospital discharge in breech-born neonates and proposes selective ultrasound for high-risk patients. A retrospective chart review was conducted to identify breech-born neonates who underwent hip ultrasonography before discharge for the detection of DDH between 2019 and 2023. Patients were categorized into DDH and non-DDH groups according to the ultrasound results. We compared sex, gestational age, birth weight, first-born status, twin pregnancy, associated anomalies, presence of symptoms, physical examination results, and timing of the first hip ultrasound. The medical records of the mothers were reviewed to identify the amount of amniotic fluid and duration of breech presentation. This study included 102 patients, of whom 62 and 40 were assigned to the non-DDH and DDH groups, respectively. Congenital anomalies, positive symptoms, and positive physical examination results were significant risk factors. However, female sex, first-born status, and oligohydramnios were not statistically significant. The duration of breech presentation during pregnancy was not significant. Additionally, the risk of Pavlik harnesses was higher in patients who underwent a positive physical examination. Universal ultrasonography before discharge is not recommended for the early diagnosis of DDH in all breech-born neonates because of the high rate of overdiagnosis. We recommend that ultrasonography be performed in patients with congenital anomalies, except for foot problems, or in those with a positive physical examination conducted by trained specialists.
Topics: Humans; Breech Presentation; Female; Retrospective Studies; Infant, Newborn; Pregnancy; Male; Ultrasonography; Early Diagnosis; Republic of Korea; Patient Discharge; Hip Dislocation, Congenital; Risk Factors; Developmental Dysplasia of the Hip
PubMed: 38787997
DOI: 10.1097/MD.0000000000038316 -
Pediatrics Jun 2024Technological advancements before and after delivery have greatly altered the counseling of pregnant patients facing a fetal diagnosis of severe oligohydramnios or... (Review)
Review
Technological advancements before and after delivery have greatly altered the counseling of pregnant patients facing a fetal diagnosis of severe oligohydramnios or anhydramnios secondary to congenital anomalies of the kidneys and urinary tract. Once considered a nearly uniformly lethal abnormality, long-term survival may now be possible secondary to prenatal innovations aimed at restoring the amniotic fluid volume and the availability of more advanced neonatal dialysis techniques. However, these available therapies are far from perfect. The procedures are onerous for pregnant patients without a guarantee of success, and families must prepare themselves for the complex life-long medical care that will be necessary for surviving individuals. Multidisciplinary counseling is imperative to help pregnant individuals understand the complexity of these conditions and assist them in exercising their right to informed decision-making. Moreover, as with any developing field of medicine, providers must contend with ethical questions related to the treatment options, including questions regarding patient-hood, distributive justice, and the blurred lines between research, innovation, and standard care. These ethical questions are best addressed in a multidisciplinary fashion with consideration of multiple points of view from various subspecialties. Only by seeing the entirety of the picture can we hope to best counsel patients about these highly complex situations and help navigate the most appropriate care path.
Topics: Humans; Female; Pregnancy; Ethical Analysis; Kidney; Urinary Tract; Infant, Newborn; Urogenital Abnormalities; Oligohydramnios; Prenatal Diagnosis
PubMed: 38784992
DOI: 10.1542/peds.2023-064720 -
Prenatal Diagnosis Jun 2024To describe and compare maternal and fetal comorbidities and obstetrical outcomes in pregnancies with hypoplastic left and right heart (HLHS and HRH) single ventricle...
Maternal-fetal comorbidities and obstetrical outcomes of fetal single ventricle cardiac defects: 10 years' experience with a multidisciplinary management protocol at a single center.
OBJECTIVES
To describe and compare maternal and fetal comorbidities and obstetrical outcomes in pregnancies with hypoplastic left and right heart (HLHS and HRH) single ventricle cardiac defects (SVCD) from a single center under a multidisciplinary protocol.
METHOD
A single center retrospective review of fetal SVCD from 2013 to 2022. Maternal-fetal comorbidities, delivery, and postnatal outcomes were compared between HLHS and HRH using descriptive statistics and univariate and multivariate analyses.
RESULTS
Of 181 SVCD pregnancies (131 HLHS; 50 HRH), 9% underwent termination, 4% elected comfort care, 5 died in utero and 147/152 liveborns survived to the first cardiac intervention. Cesarean delivery occurred in 57 cases (37%), planned in 36 and unplanned in 21. Comorbidities, which did not differ between HLHS and HRH, included fetal growth restriction (FGR, 17%), prematurity (14%), maternal hypertension (9%), maternal obesity (50%), fetal extracardiac anomalies and chromosome anomalies (12%, 13%). In multivariate analysis, only earlier gestational age at delivery and oligohydramnios predicted decreased odds of survival at one year.
CONCLUSION
Maternal-fetal comorbidities are common in both HLHS and HRH. Earlier gestational age at delivery and oligohydramnios predict lower postnatal survival. FGR, even with severe early onset, did not significantly impact short- or long-term neonatal survival in single ventricle conditions.
Topics: Humans; Female; Pregnancy; Retrospective Studies; Adult; Comorbidity; Pregnancy Outcome; Hypoplastic Left Heart Syndrome; Infant, Newborn; Heart Defects, Congenital; Pregnancy Complications; Univentricular Heart
PubMed: 38782600
DOI: 10.1002/pd.6591