Background: Bartter syndrome is a rare autosomal recessive inherited salt wasting tubulopathy, it`s incidence proportion is 1.2 cases per 1.000.000 live births. The present case - report discusses a clinical case of an antenatal Bartter syndrome (type II) with a novel mutation and it`s course from antenatal presentation to 6 months postpartum. Case Presentation: The case-report discusses a clinical case of an antenatal Bartter syndrome (type II) with a novel homozygous missense variant mutation in KCNJ1 gene: c.554C>T (p. Pro185Leu). Symptoms presented from 24 weeks of pregnancy as premature labour threats, maternal dyspnoea and severe polyhydramnios (amniotic fluid index 36 cm). Therapeutic interventions included use of indomethacin, dexamethasone, micronized progesterone and three consequent amnioreductions. Pregnancy was prolonged until 32 weeks and induced due to severe reoccurring polyhydramnios, progressing maternal dyspnoea and inability to perform next amnioreduction. Labour was complicated by severe placental abruption and new born – boy was referred to neonatal intensive care unit. Neonatal period was complicated by electrolyte abnormalities: hyponatremia, hypochloremic metabolic alkalosis, transient hyperkalaemia that gradually developed into hypokalaemia, hypercalcemia and elevated rennin and aldosterone levels characteristic to type II Bartter syndrome. At 6 months (corrected age 4 months) he is gaining weight within normal ranges and his psychomotor development is ahead of his corrected age, without any need for daily medications. Conclusion: The present case report describes the clinical course of a Bartter syndrome is of high importance, due to the reason that it shows clinical course of patient with novel mutation and offers one of the ways how to manage the disease. The described novel mutation may have favourable prognosis for neonate. The pregnancy should be managed as high-risk pregnancy with expertise in perinatal diagnostics and interventions. Early recognition, and interventions, are and essential to prolong a pregnancy and lessen prematurity complications.
Caesarean section is associated with an increased risk of abnormal placental implantation and adverse pregnancy outcomes in subsequent pregnancies. Besides the placenta accrete spectrum, only a few of the previous studies focused on other placental development alterations in the scarred uterus. We assessed placental development deviations in the uterus with a Caesarean section scar by evaluating placental volume (PV) and vascular flow indexes. From 1 January 2021 until 31 March 2022, placental volumes and vascularization indexes (VI, FI, VFI) were prospectively measured by 3D power Doppler and VOCAL techniques in 221 patients attending the first trimester screening program. We also calculated the placental quotient to standardize PV to the gestational age. No statistically significant differences in the values of placental volume, placental quotient and placental vascularization indexes were detected between women with previous Caesarean section delivery or women with vaginal delivery. FI was significantly lower in nulliparous in the first trimester. The results of our study suggest that 3D placental evaluation was not able to detect placental development alteration in the uterus with a Caesarean section scar. Future research needs to verify whether 3D power Doppler and Vocal techniques can provide more information if used in an earlier gestational age.
Syndromic craniosynostosis is rare. Early prenatal sonographic diagnosis is possible. The aim of our study is to guide sonographers to establish a tentative diagnosis of syndromic craniosynostosis based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counselling is recommended. We also recommend to offer a fetal MRI. Due to midfacial hypoplasia and morphological malformations of the upper airway, postnatal respiratory problems are possible. The delivery should be planned in a perinatal centre. VP32.07 Prenatal diagnosis of Caroli's syndrome in association with autosomal recessive polycystic kidney disease
Objectives: To compare cervical volume, length, anteroposterior (AP) and width (LL) dimensions in nulliparous and parous women after vaginal delivery. Methods: Cervical three-dimensional (3D) measurements were obtained by pre-defined criteria during the gynecological ultrasound and stored in an archive. Cervical volume was acquired by the gold standard for 3D measurements -Virtual Organ Computer-Aided Analysis software (V VOCAL ). Cervical length was measured from internal cervical os to external cervical os. AP and LL measurements were measured in cervical canals middle portion, perpendicular to each other (image 1). Cervical volumes were compared using the Man-Whitney test, cervical length, LL and AP diameters were compared using T-test, our p-value for statistical significance was p < 0.001. Results: We included 86 participants, nulliparas (n = 40) and multiparas (n = 46), women after Caesarean sections were excluded. Comparing nulliparous and parous women's V VOCAL , multiparous women had larger cervical volume (median 25.68 vs 20.27 cm 3 , p < .000) and larger AP (mean 3.15 vs 2.78 cm, p < .000) dimensions. Parity had no effect on cervical length measurement's (mean 2.92 vs 3.08 cm, p = 0.29) and LL (mean 3.13 vs 3.15 cm, p = 0.8) dimensions. Conclusions: Multiparous women have larger cervical volumes and AP cervical dimensions compared to nulliparous women. Our data suggest that parity has no effect on the cervical length and LL dimensions. VP08.06 Contribution of sonohysterography to the exploration of uterine intracavitary lesions
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