The Cardiovascular Profile Score in Patients with Non-immune Hydrops Fetalis and Cardiac Anomalies - a Pilot Study.

The purpose of this paper is to explore whether the cardiovascular profile score (CVPS) correlates with fetal outcome in patients with non-immune hydrops fetalis (NIHF) and cardiac anomalies. In this retrospective study, we included fetuses with NIHF and the suspicion of a cardiac anomaly in prenatal ultrasound. The CVPS was calculated using information obtained by fetal echocardiographic examination. Feto-neonatal mortality (FNM) was defined as intrauterine fetal demise or death in the first 6 months of life. We reviewed 98 patients, who were referred to the Department of Obstetrics and Gynecology of the Johannes Gutenberg University in Mainz with the diagnosis of NIHF between January 2007 and March 2021. By eighteen of them, the suspicion of a cardiac anomaly was raised. After exclusion of six pregnancies (one termination of pregnancy and five because of incomplete data), 12 cases were left for analysis. Mean gestational age at which the CVPS was calculated was 29 + 2 weeks. Two fetuses died in utero. Of the remaining ten hydropic fetuses, three newborns died in the neonatal period, and seven survived after a 6-month surveillance period. Median CVPS of all fetuses was 6 points. Surviving fetuses showed statistically significantly higher CVPS values (median 8 points) than fetuses with FNM (median 5 points, p value = 0.009). Our results point towards a positive association between CVPS and fetal outcome in fetuses with NIHF and cardiac anomalies. The CVPS appears to be a useful marker in the assessment of heart failure in utero.

Pregnancy management for a woman with extensive vulvar and pelvic malformations caused by Klippel-Trénaunay syndrome.

Klippel-Trénaunay syndrome (KTS) is a rare congenital disorder defined by a triad of capillary malformation, venous malformation, and soft tissue or bone hypertrophy most commonly affecting unilateral lower limbs. Due to the rarity of KTS, evidence-based guidelines for the management of pregnancy in people with KTS are still lacking. A 34-year-old woman (gravidity 1; parity 0) presented at 25 weeks of gestation with malformations of the right side of her body. The extent of the KTS affecting the vulva, pelvis, and right leg was remarkable. As the prenatal MRI showed massive vascular malformations of the pelvis and vulva, we performed an elective cesarean section to avoid severe perinatal hemorrhage during a vaginal delivery. Intraoperatively, we observed varices on the parietal peritoneum within the vesico-uterine pouch and the isthmocervical transition of the uterus, which were not identifiable in the preoperative MRI. Although KTS patients have been discouraged from pregnancy in the past because of a high risk for complications, successful and uncomplicated pregnancies are possible. For this purpose, we believe a multidisciplinary strategy that is crucial.

Vasa previa: A rare obstetric complication-A case series and a literature review.

Vasa previa is a rare condition. However, since the increase in assisted reproductive technologies (ARTs), clinicians are more frequently confronted with this complication. In this study, we present five cases of vasa previa prenatally diagnosed from a tertiary referral hospital with approximately 2000 births yearly.

Abdominal tumor in a 14-year-old adolescent: imperforate hymen, resulting in hematocolpos-a case report and review of the literature.

Background. Abdominal masses in female adolescents are uncommon. A rare cause of this condition is hematocolpos due to imperforate hymen. Case. We present a case of an unusually massive asymptomatic abdominal bulk in a 14-year-old female patient, who sought for medical advice after unusual abdominal pain lasting for few weeks. The patient was otherwise asymptomatic, apart from an unusual dramatic expansion of her abdominal wall during the last month. We describe the surgical management and the follow-up of the patient. Summary and Conclusion. Clinicians should keep in mind that an imperforate hymen can cause abdominal growth due to hematocolpos and include it in the differential diagnosis of such a clinical entity in female adolescents. 2D ultrasound is usually efficient for the confirmation of the diagnosis of hematocolpos, but 3D ultrasound is more accurate. Wide excision should be undertaken, as an initial approach, to avoid recurrence.

Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.

Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contractures, hyperechogenic amniotic fluid and polyhydramnion. After birth, palliative treatment was provided and she died on her first day of life. Sequence analysis of the ABCA12 gene identified two novel mutations, c.1857delA (predicting p.Lys619) in exon 15 and c.5653-5655delTAT (predicting p.1885delTyr) in exon 37, each in heterozygous state. The c.5653-5655delTAT mutation is not truncating, but the deleted tyrosine at position 1885 is perfectly conserved among vertebrates and molecular studies evaluated the mutation as probably disease causing and damaging.

Blood flow velocity waveforms of the fetal middle cerebral artery in a normal population: reference values from 18 weeks to 42 weeks of gestation.

The aim of this prospective cross-sectional study was to establish new Doppler reference curves for peak blood flow velocities (Vmax, Vmean, Vmin) and impedance indices (PI, RI) of the middle cerebral artery at 18-42 weeks of gestation by an automatic wave form analysis integrated into the ultrasound device. In 962 low-risk pregnancies, blood flow velocities were derived from the middle cerebral artery with pulsed color Doppler ultrasonography. Reference curves were constructed for the individual parameters based on a growth function from a four-parameter class of monotonic continuous functions according to the smallest square principle for maximum blood flow velocities, as well as on a polynomial function for resistance indices. Further assessed was intra-observer reliability. The results obtained for maximum blood flow velocities demonstrate a continuous increase (Vmax = 26.8 cm/s to 59.1 cm/s, Vmean = 11.2 cm/s to 29.7 cm/s and Vmin = 4.9 to 15.8 cm/s) over the period from 18 to 42 weeks of gestation. In contrast, reference curves for the pulsatility and the resistance index are characterized by a parabolic pattern (18 weeks: 1.5; 28 weeks: 1.9; 42 weeks: 1.1 and 18 weeks: 0.68; 28 weeks 0.8; 42 weeks: 0.61). Intraobserver reliability for PI, RI, Vmax, Vmean, and Vmax were 87%, 83%, 80%, 83% and 93%, respectively. At constant measurement conditions, the reference ranges for blood flow velocities and impedance indices in the middle cerebral artery established by this study were found to be a useful non-invasive tool in risk assessment for fetal anemia, as well as in the Doppler ultrasound observation of the course in fetuses with intrauterine growth restriction.