Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report.

OBJECTIVE: To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease. CASE REPORT: A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed hydrops fetalis, cerebellum hypoplasia, and fetal immobility. The pregnancy was terminated due to major fetal anomaly, and whole exome sequencing (WES) analysis of fetal tissue and parental blood unveiled a pathogenic variant in exon 10 of the GBA gene (NM_001005741.3: c.1265T > G: p.L422R) originating from the mother. Additionally, a novel CNV (chr1: 155204785-155205635 deletion, 0.85 kb) spanning exon 10-12 in the GBA gene was identified from the father. This compound heterozygosity confirmed the diagnosis of prenatal lethal form of Gaucher disease and was informative for genetic counseling. CONCLUSION: WES is a powerful tool to detect pathogenic variants among fetuses with nonimmune hydrops fetalis and complex abnormality from prenatal ultrasound. Compound heterozygosity consisted of single nucleotide variants (SNV) and copy number variations (CNVs) may lead rare inherited metabolic disorders including prenatal lethal form of Gaucher disease.

Birth outcomes following pelvic ring injury: A retrospective study.

OBJECTIVE: To report obstetric outcomes in pregnant women with previous pelvic ring injury (PRI) and investigate the correlation between residual pelvic deformity and the mode of delivery. DESIGN: Retrospective cohort study. SETTING: Single medical centre in Taiwan. POPULATION: Forty-one women with PRI histories from 2000 to 2021 who subsequently underwent pregnancy and delivery. METHODS: All patients had complete PRI treatment and radiological follow up for at least 1 year. The demographic data, radiological outcomes after PRI and obstetric outcomes were collected to investigate the potential factors of delivery modes using non-parametric approaches and logistic regression. Caesarean section (CS) rates among different subgroups were reported. MAIN OUTCOME MEASURES: Comparisons of demographic data and radiological outcomes (Matta/Tornetta criteria and Lefaivre criteria) after PRI among patients who had subsequent pregnancy and underwent vaginal deliveries (VD) or CS. RESULTS: There were 14 VD and 27 CS in 41 patients. Nine patients underwent CS because of their PRI history, 12 patients underwent CS for other obstetric indications and 20 underwent trial of labour. Based on the logistic regression model, retained trans-iliosacral implants did not significantly increase the risk of CS (odds ratio [OR] 1.20; 95% CI 0.17-8.38). Higher pelvic asymmetry value by Lefaivre criteria was a potential risk factor for CS after previous PRI (OR 1.52; 95% CI 1.043-2.213). CONCLUSIONS: VD is possible after PRI. Retained trans-iliosacral implants do not affect the delivery outcome. Residual pelvic asymmetry after PRI by Lefaivre criteria is a potential risk factor for CS.

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold.

OBJECTIVE: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by overgrowth and multiple anomalies. Most clinical diagnoses of SGBS1 are made postnatally. We present the case of a pregnant woman in whom the fetus presented with a thick nuchal fold 5.6 mm at 15 weeks of gestation, leading to the prenatal diagnosis of SGBS1 with Xq26.2 (133408101-134221889) deletion. CASE REPORT: We report the case of a 34-year-old pregnant woman with the initial presentation of fetal thick nuchal fold 5.6 mm at 15 weeks of gestation. Amniocentesis of the fetal karyotype revealed a normal 46, XY, and single nucleotide polymorphism array showed Xq26.2 (133408101-134221889) deletion. Prenatal ultrasound at 21 weeks of gestation revealed a thick nuchal fold, hepatomegaly, nephromegaly, congenital diaphragmatic hernia, hypospadias, and polyhydramnios. Fetal magnetic resonance imaging revealed hepatomegaly, nephromegaly, congenital diaphragmatic hernia, and right lung hypoplasia. The woman had her pregnancy terminated at 24 weeks of gestation. The proband had a general appearance of low-set ears, hypertelorism, a large tongue, and hypospadias and some unique findings on autopsy, including hepatomegaly, right hiatal hernia, liver extensive extramedullary hematopoiesis, kidney marked congestion, and focal hemorrhage. DISCUSSION: The main prenatal ultrasound findings that alert clinical doctors about the possible diagnosis of SGBS1 included macrosomia, polyhydramnios, organomegaly, renal malformations, congenital diaphragmatic hernia, and cardiac anomalies. Our case underscores the importance of fetal karyotyping combined with single nucleotide polymorphism array when a thick nuchal fold is found. Genetic counseling is essential in SGBS1, and prenatal testing or preimplantation testing for subsequent pregnancies is necessary to identify possible pathogenic variants.

Maternal-Neonatal Outcomes of Obstetric Deliveries Performed in Negative Pressure Isolation Rooms during the COVID-19 Omicron Variant Pandemic in Taiwan: A Retrospective Cohort Study of a Single Institution.

Objective: To investigate the maternal−neonatal outcomes of obstetric deliveries performed in negative pressure isolated delivery rooms (NPIDRs) during the coronavirus disease 2019 (COVID-19) omicron variant pandemic period in a single tertiary center in northern Taiwan. Methods: Confirmed positive and suspected-positive COVID-19 cases delivered in NPIDRs and COVID-19-negative mothers delivered in conventional delivery rooms (CDRs) in the period of 1 May 2022 to 31 May 2022 during the COVID-19 omicron variant pandemic stage were reviewed. The maternal−neonatal outcomes between the two groups of mothers were analyzed. All deliveries were performed following the obstetric and neonatologic protocols conforming to the epidemic prevention regulations promulgated by the Taiwan Centers for Disease Control (T-CDC). Multiple gestations, deliveries at gestational age below 34 weeks, and major fetal anomalies were excluded from this study. Results: A total of 213 obstetric deliveries were included. Forty-five deliveries were performed in NPIDRs due to a positive COVID-19 polymerase chain reaction (PCR) test (n = 41) or suspected COVID-19 positive status (n = 4). One hundred and sixty-eight deliveries with negative COVID-19 PCR tests were performed in CDRs. There was no statistical difference in maternal characteristics between the two groups of pregnant women. All COVID-19-confirmed cases either presented with mild upper-airway symptoms (78%) or were asymptomatic (22%); none of these cases developed severe acute respiratory syndrome. The total rate of cesarean section was not statistically different between obstetric deliveries in NPIDRs and in CDRs (38.1% vs. 40.0%, p = 0.82, respectively). Regardless of delivery modes, poorer short-term perinatal outcomes were observed in obstetric deliveries in NPIDRs: there were significant higher rates of neonatal respiratory distress (37.8% vs. 10.7%, p < 0.001, respectively), meconium-stained amniotic fluid (22.2% vs. 4.2%, p < 0.001, respectively) and newborn intensive care unit admission (55.6% vs. 8.3%, p < 0.001, respectively) in obstetric deliveries performed in NPIDRs than in CDRs. Maternal surgical outcomes were not significantly different between the two groups of patients. There was no vertical transmission or nosocomial infection observed in COVID-19 confirmed cases in this study period. Conclusions: Our study demonstrates that obstetric deliveries for positive and suspected COVID-19 omicron-variant cases performed in NPIDRs are associated with poorer short-term perinatal outcomes. Reasonable use of personal protective equipment in NPIDRs could effectively prevent nosocomial infection during obstetric deliveries for pregnant women infected with the COVID-19 omicron variant.

Effect of Fetoscopic Laser Photocoagulation on Fetal Growth and Placental Perfusion in Twin-Twin Transfusion Syndrome.

Objective: To investigate the fetal growth pattern after fetoscopic laser photocoagulation (FLP) in twin-twin transfusion syndrome (TTTS) and the effect of FLP on placental perfusion and intrauterine growth restriction (IUGR) incidence. Methods: TTTS cases with a live delivery of both twins at least 28 days after FLP and with a neonatal follow-up at our hospital at least 60 days after delivery were included. The biometric data obtained before FLP (based on ultrasound); time point M1), upon birth (M2), and at neonatal follow-up (M3) were analyzed. The body weight discordance (BWD) was defined as (estimated fetal weight [body weight] of the recipient twin − estimated fetal weight [body weight] of the donor twin)/(estimated fetal weight [body weight] of the recipient twin) × 100%. Total weight percentile (TWP) was defined as the donor + recipient twin weight percentile; the TWP indirectly reflected the total placental perfusion. Results: the BWDs decreased from M1 to M2 to M3 (24.6, 15.9, and 5.1, respectively, p < 0.001, repeated measurements). The weight percentiles of recipient twins decreased after FLP, that is, from M1 to M2 (53.4% vs. 33.6%, respectively, p < 0.001, least significant difference [LSD] test). However, the weight percentiles of donor twins increased after delivery, that is, from M2 to M3 (13.2% vs. 26.2%, respectively, p < 0.001, LSD test). Moreover, the TWPs decreased after FLP, that is, from M1 to M2 (66.2% vs. 46.8%, respectively, p = 0.002, LSD test) and increased after delivery, that is, from M2 to M3 (46.8% vs. 63.2%, respectively, p = 0.024, LSD test). The IUGR incidences in donor twins were significantly lower after FLP (77.4% vs. 56.6%, respectively, p = 0.019, McNemar test) and further decreased after delivery (56.6% vs. 37.7%, respectively, p = 0.041, McNemar Test); however, no significant difference was observed in recipient twins' IUGR incidences among M1, M2, and M3. The donor twin had catch- up growth in body weight, height, and head circumference after delivery, and the recipient twin had catch-up growth in only body height after delivery. Conclusions: the BWD decreased after FLP in fetuses with TTTS mainly because of the decreased weight percentiles of recipient twins. Moreover, it further decreased after delivery mainly because of the increased weight percentiles of donor twins. FLP not only decreased placental perfusion but also improved the TTTS prognosis because of reduced BWD and donor twin IUGR incidence.

Incidence, prognosis, and perinatal outcomes of and risk factors for severe twin-twin transfusion syndrome with right ventricular outflow tract obstruction in the recipient twin after fetoscopic laser photocoagulation.

BACKGROUND: Right ventricular outflow tract obstruction (RVOTO) is the most frequently encountered congenital heart disease in patients with twin -twin transfusion syndrome (TTTS) and is especially prevalent in the recipient twin. In this retrospective study, we evaluated the incidence, prognosis, postnatal management, and perinatal outcomes of and risk factors for RVOTO in the recipient twin in severe TTTS cases which diagnosed before 26 weeks after fetoscopic laser photocoagulation (FLP) at a single center in Taiwan. METHODS: RVOTO was diagnosed using fetal or postnatal echocardiography. The fetal outcomes evaluated were perinatal survival rate, neonatal brain image anomalies rate, gestational age at delivery, and birth weight. RESULTS: Total 187 severe TTTS cases were included; 14 (7.49%) had a recipient twin with RVOTO (12 cases of pulmonary stenosis and 2 of pulmonary atresia). Of these 14 cases, 3 (21.4%) demonstrated improvements in outflow obstruction after FLP, and 11 (78.6%) resulted in perinatal survival. Of the 11 survivors, 5 (45.5%) received transcatheter balloon valvuloplasty to alleviate the RVOTO. The perinatal survival rate, gestational age at delivery, neonatal brain image anomaly rate, and birth weights did not significantly differ between the groups in which the recipient twin had versus did not have RVOTO. Generally, the recipient twin had RVOTO received FLP at a younger gestational age (in weeks; 19.3 ± 2.4 vs. 20.7 ± 2.6, p = 0.048) and had a higher percentage of cases at Quintero stage IV (50.0% vs. 12.1%, p < 0.001) than those in which the recipient twin did not have with RVOTO. Using logistic regression, we discovered that FLP at a younger gestational age (p = 0.046, odds ratio = 0.779) and TTTS at Quintero stage IV (p = 0.001, odds ratio = 7.206) were risk factors for the recipient twin developing RVOTO after FLP in severe TTTS cases. CONCLUSIONS: The post-FLP perinatal outcomes of cases of severe TTTS in which the recipient twin had versus did not have RVOTO were comparable in this study, which may have been due to the similar gestational ages at delivery and strong influence of high Quintero stages (stages III and IV).

Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism.

Placental mesenchymal dysplasia is an uncommon vascular anomaly of the placenta with characteristics of placentomegaly and multicystic appearance and with or without association with fetal chromosomal anomaly. We present a unique placental mesenchymal dysplasia patient with amniotic fluid karyotyping as 46, X, iso(X) (q10). Detailed molecular testing of the amniotic fluid, fetal cord blood, non-dysplastic placenta and dysplastic placenta was conducted after termination of pregnancy, from which we proved biparental/androgenetic (46, X, i(X) (q10)/45, X) mosaicism in different gestational tissues. A high portion of androgenetic cells in dysplastic placenta (74.2%) and near 100% of biparental cells in the fetus's blood and amniotic fluid were revealed. Delicate mosaic analyses were performed, and possible pathogenesis and embryogenesis of this case were drawn up.

Hysteroscopic removal, with or without laparoscopic assistance, of first-trimester cesarean scar pregnancy.

OBJECTIVE: To demonstrate the implementation and potential benefits of hysteroscopic removal, with or without concomitant laparoscopic assistance, of first-trimester cesarean scar pregnancies (CSPs). DESIGN: Patients with prior cesarean deliveries may have scar formation at the muscular wall of the uterine isthmus, resulting in a cesarean scar defect (CSD), also known as an isthmocele or diverticulum. When implantation of a trophoblast occurs at the CSD, a CSP develops, and with progression onto higher gestational age, it carries risks for serious complications, such as placenta previa spectrum, life-threatening bleeding, uterine rupture, and cesarean hysterectomy. Therefore, early termination is often recommended. Given that the chorionic frondosum only penetrates the decidual basalis layer during the first trimester and does not invade the distal myometrial segment until early second trimester, operative hysteroscopy can be a reliable and efficient treatment modality for early intervention. This narrated video features the systematic approach and surgical management for patients with first-trimester CSPs. SETTING: Academic tertiary hospital. PATIENT(S): Three multiparous women between 34 and 38 years of age diagnosed with CSPs within the first trimester. INTERVENTION(S): Initial assessment with transvaginal ultrasonography and color Doppler flow identifies the site of implantation and measures the residual myometrial thickness (RMT), which are important parameters for classifying the CSPs into type I or type II. Type I CSPs often present at an earlier gestational age, have a thicker RMT, and grow toward the uterine cavity, while type II CSPs are frequently noted at a higher gestational age, have a thinner RMT, demonstrate obvious scar dehiscence, and often invade toward the bladder. The patients received either operative hysteroscopy alone or with concomitant laparoscopic assistance and repair of CSD dehiscence. For all hysteroscopic operations, misoprostol (200 µg) was given 4 hours before the procedure while oxytocin (20 U in 1000 mL isotonic solution, intravenous infusion) was infused immediately after removal of the placental tissue. For laparoscopic excision and repair of the dehiscent scar, local injection of 5 mL terlipressin acetate (1 mg) was added before the initiation of laparoscopic CSD excision. MAIN OUTCOME MEASURE(S): Appraisal of the parameters used for preoperative assessment, the efficacy of the surgical procedures, and the intention to minimize the associated risks and morbid sequalae were evaluated. RESULT(S): Most of the type I CSPs or type II CSPs with gestational age <8 weeks and RMT >3 mm can be successfully treated with operative hysteroscopy alone. In contrast to blind dilatation and curettage, operative hysteroscopy offers direct visualization to ensure complete removal of the chorionic villi, which can occasionally be buried deep within the concavity of the CSD. It is worth noting that gently sweeping the decidua basalis from the myometrium with the loop resectoscope is more than enough to separate the chorionic villi within and completely displace the placental tissues without causing massive hemorrhage. For type II CSPs in late first-trimesters showing distended CSDs and diminished RMT, laparoscopy can be established before the hysteroscopic procedure for better surveillance and to prevent inadvertent myometrial perforation. Then, hysteroscopic removal of CSP can further induce uterine contractions to help reduce blood loss during subsequent laparoscopic repair of CSD. CONCLUSION(S): Accurate diagnosis and timely management of CSPs during the first trimester are crucial for preventing significant morbidities associated with advanced gestational age. Operative hysteroscopy offers the benefit of direct visualization for competent detachment of the decidua basalis of the CSP from the steep concavity of the CSD. Furthermore, the employment of laparoscopy for type II CSPs helps avoid inadvertent complications related to the thin RMT and allows concomitant repair of the extensive dehiscence.

Delivery management of suspected or confirmed COVID-19 positive mothers.

The Coronavirus Disease-2019 (COVID-19) pandemic has brought catastrophic impact on the world since the beginning of December 2019. Extra precautionary measures against COVID-19 during and after delivery are pivotal to ensure the safety of the baby and health care workers. Based on current literature, it is recommended that delivery decisions be discussed between obstetricians and neonatologists prior to delivery, and designated negative pressure delivery rooms should be arranged for COVID person under investigation (PUI). During delivery, a minimal number of experienced staff attending delivery should don personal protective equipment (PPE) and follow the neonatal resuscitation program (NRP). Positive pressure ventilation is best used in a negative pressure room if available. At-risk babies should be transported in an isolette, and tested for COVID-19 in a negative pressure room soon after bathing. Skin-to-skin contact and breast milk feed should continue under certain circumstances. Although newborns with COVID-19 infections often present with symptoms that mimic sepsis and one third of affected patients may demand some form of respiratory support, short-term prognoses are favorable and most recover within two weeks of symptoms onset. In this article, we will further elaborate on topics covering timing and mode of delivery, antenatal steroid, vertical transmission, delivery room management, airway management, transport, testing and isolation after birth, skin-to-skin contact, breast milk feeding, clinical features, outcomes, and discharge plans. In addition, we also share our experiences of encountering neonates born of suspected COVID-19 positive mothers.

Endometrial carcinoma arising in one horn of a didelphys uterus.

OBJECTIVE: Endometrial cancer in uterine anomalies is very rare. Currently, few cases with endometrial cancer coexistent with didelphys uterus are described. We present a case of a patient with carcinoma in one only horn of a didelphys uterus. CASE REPORT: A 50-year-old woman presented with abnormal uterine bleeding. Uterine anomaly was uncertain on initial clinical examination and pelvic ultrasonography. The MRI study showed double uterus and cervixes, a uterine didelphys was suspected. Preoperative histology from curettage described endometrioid adenocarcinoma. The patient underwent laparoscopic hysterectomy with surgical staging. Macroscopic examination revealed a didelphys uterus, and the final histology confirmed the diagnosis of uterine cancer. CONCLUSION: The coincidence of uterine malignancies and uterine anomalies is rare; however, it should be aware of uncertain diagnosis and delaying of treatment.

Comparison of urodynamic results and quality of life between women with interstitial cystitis and overactive bladder.

OBJECTIVES: Some symptoms of overactive bladder overlap with those of interstitial cystitis. This study was conducted to compare the urodynamic results and quality of life of patients with the two conditions. MATERIALS AND METHODS: Urodynamic data were retrospectively analyzed in 55 females with interstitial cystitis and 171 females with overactive bladder between 2012 and 2016. Females with overactive bladder were divided into detrusor overactivity group and non-detursor overactivity group based on urodynamic results. All recruited patients completed validated questionnaires including incontinence impact questionnaire (IIQ-7), urogenital distress inventory (UDI-6), and short form 12 health survey (SF-12). Patient demographics, total scores of questionnaires, and urodynamic results were compared among interstitial cystitis, detrusor overactivity, and non-detrusor overactivity groups. RESULTS: The age and body mass index of interstitial cystitis patients were significantly lower than that of overactive bladder patients. The severity of urinary symptoms was higher in interstitial cystitis group than in non-detrusor overactivity group from questionnaire, but similar as detrusor overactivity group. Interstitial cystitis group had lower maximum flow rate, lower residual urine volume, lower maximum cystometric capacity, and higher maximal urethral closure pressure compared with non-detrusor overactivity group. However, there was no significant difference in urodynamic parameters between interstitial cystitis and detrusor overactivity groups. CONCLUSION: Interstitial cystitis and overactive bladder have a negative impact on quality of life, but urodynamic studies are not effective in distinguishing between interstitial cystitis and detrusor overactivity.

Evolving Cesarean Scar Pregnancy into Morbidity Adherent Placenta-Evidence from Serial Ultrasound Examination.

OBJECTIVE: To present the complete history of a case with placenta accreta and demonstrate the special clues of ultrasonography finding during whole trimesters from early pregnancy to delivery. CASE REPORT: A multiparous 28-year-old female with a history of multiple cesarean deliveries was found with suspected precesarean section scar pregnancy at 6 weeks of gestation. We performed a series of ultrasonography scans, which revealed placenta previa totalis and placenta accreta at 15 and 32 weeks of gestation, respectively. A well-planned cesarean section with hysterectomy was performed at the 35th week of gestation with massive blood transfusion support, and an alive female baby-with a birth body weight of 2485 g, and Apgar score of 9 at the 1st minute and 10 at the 5th minute-was born. The intraoperative blood loss was 7000 mL, and no postoperative hemorrhage or other complication occurred. CONCLUSION: Ultrasonography remains the main tool for diagnosis of morbid adherent placenta with several typical clues, including abnormal vasculature, increased size and numbers of vascular sinus, absence of uterovesicle border or retroplacental hypoechoic zone, and invaded placenta insertion on myometrium. Proper planning prior to the operation and detailed counseling may be necessary, as well as hysterectomy; massive bleeding with transfusion remained the most seen complication.

Malignant peripheral nerve sheath tumor of the chest wall associated with neurofibromatosis: a case report.

Primary chest wall tumors are relatively rare and represent approximately 5% of all thoracic neoplasms. Malignant peripheral nerve sheath tumor (MPNST) is highly aggressive and occurs in the second or third decade of patients with neurofibromatosis type 1 (NF-1). The estimated incidence of MPNST in patients with NF-1 is 2-5% (general population, 0.001%). This neoplasm usually affects the extremities and rarely the thoracic cavity. We present a case of MPNST of the chest wall in a patient with NF-1 who developed local recurrence 5 months after complete surgical resection and postoperative adjuvant radiotherapy.