Late-onset pulmonary arterial hypertension after successful early arterial switch surgery for simple transposition of the great arteries

Pulmonary arterial hypertension rarely develops in patients with simple transposition of the great arteries who undergo neonatal surgical correction. We describe a young male patient who was diagnosed with severe pulmonary arterial hypertension 14 years after neonatal arterial switch surgery. The relevant literature is briefly reviewed. Clinicians should be aware of this rare, late, and potentially life-threatening condition. Continued long-term follow up of these patients should be provided. Early diagnosis and treatment with combination therapy may improve outcome

The fetal profile line:a proposal for a sonographic reference line to classify forehead and mandible anomalies in the second and third trimester

Objectives To test the fetal profile (FP) line, defined as the line that passes through the anterior border of the mandible and the nasion, as a reference line for forehead and mandible anomalies. Methods Volumes of 248 normal and 24 pathological fetuses (1636 and 1937?weeks gestation, respectively) were analysed retrospectively. When the FP line passes anteriorly, across or posteriorly to the frontal bone, this was defined as negative, zero or positive, respectively. When the FP line was positive the distance (F distance) between the FP line and the frontal bone was measured. Results No cases with a negative FP line were found in the normal fetuses. Before 27?weeks gestation the FP line was always zero except in one case. After 27?weeks gestation the FP line was positive in up to 25% (F distance (mean, range): 2.8, 2.13.6?mm). The FP line correctly identified 13 cases with retrognathia, 5 cases with frontal bossing and 3 cases with a sloping forehead. Conclusion Although large prospective studies are needed, the FP line may be a useful tool to detect second trimester profile anomalies such as retrognathia, sloping forehead and frontal bossing with the possibility of quantifying the latter. (c) 2012 John Wiley & Sons, Ltd

Challenges and controversies in prenatal genetic screening in the South African context

Prenatal genetic screening is an integral part of general antenatal care and is regarded as standard of care for all pregnant women. All pregnant women < 20 weeks gestation should be offered some form of genetic screening and this should be discussed in an extensive pre-test counselling session. Late screening (after 20 weeks) may also be offered but will be limited by management options. Cell-free DNA testing has added another dimension to the landscape of prenatal screening but has to be appropriately used for the correct indication. Interpretation of risk for Down’s syndrome is a critical component of the screening process. A guideline would be to regard screening risks in absolute terms as there is no provision made to interpret risk in relative risk terms. An important safeguard to overcome the “relative risk” conundrum would be to inform all patients during pre-test counselling of an intermediate risk category generally between 1:300-1:1000 where cfDNA testing may be considered, at the parents’ own discretion. If the screening risk is <1:1000, no further testing is advised as this risk is deemed very low. A screening risk for Down’s syndrome >1:300 will be deemed high risk, as is presently the case.http://www.journals.co.za/content/journal/medogam2018Obstetrics and Gynaecolog

Chiari’s Network as a Cause of Fetal and Neonatal Pathology

Chiari’s network is a remnant of the eustachian valve located in the right atrium. Incomplete involution of the fetal sinus venosus valves results in “redundant” Chiari’s network, which may compromise cardiovascular function. This report describes a case with the novel finding of prenatal compromise due to redundant Chiari’s network and an uncommon case with significant postnatal symptoms. In both cases, the symptoms (fetal hydrops and postnatal cyanosis) resolved spontaneously. The variety of cardiovascular pathologies described in the literature is believed to be associated with persistence of a Chiari network. Knowledge about this not always harmless structure is important for perinatologists, pediatricians, and pediatric cardiologists alike. The clinical importance of this rare pathology is that prenatal counseling may anticipate a generally positive outcome and that surgical intervention generally should be avoided

Absence of Association between N-Acetyltransferase 2 Acetylator Status and Colorectal Cancer Susceptibility: Based on Evidence from 40 Studies

BACKGROUND AND OBJECTIVES: N-Acetyltransferase (NAT) 2 is an important enzyme involved in the metabolism of different xenobiotics, including potential carcinogens, whose phenotypes were reported to be related to individual susceptibility to colorectal cancer (CRC). However, the results remain conflicting. To assess the relationship between NAT2 phenotypes and CRC risk, we performed this meta-analysis. METHODS: A comprehensive literature search was conducted to identify all case-control or cohort studies of NAT2 acetylator status on the susceptibility of CRC by searching of PubMed and EMBASE, up to May 20, 2011. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the association. RESULTS: A total of over 40,000 subjects from 40 published literatures were identified by searching the databases. No significantly elevated CRC risk in individuals with NAT2 slow acetylators compared with fast acetylators was found when all studies pooled (OR = 0.95, 95% CI: 0.87-1.04, I(2) = 52.6%). While three studies contributed to the source of heterogeneity were removed, there was still null result observed (OR = 0.96, 95% CI: 0.90-1.03, P = 0.17 for heterogeneity, I(2) = 17.8%). In addition, we failed to detect any associations in the stratified analyses by race, sex, source of controls, smoking status, genotyping methods or tumor localization. No publication bias was observed in this study. CONCLUSIONS: This meta-analysis suggests that the NAT2 phenotypes may not be associated with colorectal cancer development

Brain23

3D ultrasound volumes obtained for PhD study of Lou Pistorius from 2006 – 1008. Twenty eight healthy pregnant women were included after a screening ultrasound examination at 20 weeks had demonstrated a singleton pregnancy with no abnormal findings. The gestational (postmenstrual) age was determined by the time from the first day of the last menstruation and confirmed with a crown rump length (CRL) measurement in the first trimester. Women were excluded if there was a discrepancy of seven days or more between the gestational age according to the CRL and the menstrual dating, or if there were risk factors which might influence fetal growth or development, such as maternal disease or previous intra-uterine growth restriction. The study was approved by the local Medical Ethics Committee of the University Medical Centre, Utrecht, The Netherlands. Ultrasound examinations were carried out at two weekly intervals with a General Electric Voluson 730 Expert (General Electric Healthcare, London). Biometry (including fetal head circumference, abdominal circumference and femur length) was performed, followed by neurosonography if the biometry conformed to the gestational age. Transabdominal neurosonography was performed with the 2D (2.6-7.7MHz) and 3D (4.0 -8.5MHz )abdominal probes. 3D ultrasound, three static volumes were obtained with high to maximum quality (depending on the amount of fetal movement): the firs t starting with the axial transventricular plane, the second starting with the axial transcerebellar plane, and the third starting with the midcoronal plane. If a midsagittal plane could be obtained, a fourth volume was obtained starting with this plane. The angle was chosen to include the maximum amount of fetal brain that could be visualized, but kept as narrow as possible to shorten scanning time. (typically quality = max 2; angle = 55 deg

The case for the routine use of umbilical cord pH in all deliveries

Cerebral palsy (CP) cases are some of the primary reasons for litigation of high quantum amounts against obstetricians both in the public and private sector, on the basis of acute intrapartum hypoxia resulting in hypoxic ischaemic foetal brain damage and by extension invoking “negligent intrapartum care”. This has resulted in a steep rise of insurance premiums placing service delivery in both the public and private sector under a serious threat. This is a worldwide phenomenon and MacLennan already expressed his concerns in 2005 by asking: ‘Who will deliver our grandchildren?’. It has widely been believed that CP is the direct result of an adverse event at birth and that it could have been prevented, but <10% of CP is caused by “birth asphyxia”. There are multiple risk factors and causes now identified to be associated with CP.http://www.journals.co.za/content/journal/medogam2017Obstetrics and GynaecologyPaediatrics and Child Healt

Facial shape; height and width in the second and third trimester of pregnancy

Objectives: The objective of this study is to calculate on 3D volumes obtained from 16 weeks’ gestation normative data of facial height (FH), facial width (FW) and their ratio and to test these parameters in pathological cases. Methods: In total, 228 volumes were analyzed: 207 from normal and 21 from pathological cases. After multiplanar correction to the exact midsagittal plane FH was measured from the nasion to the gnathion and FW between the most lateral points on the zygomatic arch. Results: For both FH and FW the intra- and inter-observer intraclass correlation coefficient variability was 0.99 and the difference between paired measurements was less than 0.3 cm in 95% of the cases. FH increased from 1.48 to 5.08 cm (FH = −16.10 + 3.78 × log(GA), R2: 0.93) and FW from 2.20 to 6.42 cm (FW: 4.19–17.18 × log(GA), R2: 0.85). The ratio increased steadily until about 25 weeks and less thereafter (ratio: (1/GA) × 26.44 + 0.92, R2: 0.23). In pathological cases 16.6% of measurements were outside the normal range. Conclusions: This study provides normative data for FH and FW measurements and insight in normal facial growth after 16 weeks’ gestation. FH exceeds FW growth especially before 25 weeks

Prenatal screening for orofacial clefts in the Netherlands: A preliminary report on the impact of a national screening system

In the Netherlands a new and countrywide routine screening system for physical congenital anomalies was introduced by legislation in 2007. The screening was aimed initially at Down syndrome, but under specific conditions secondary screening for cleft lip and palate and other congenital malformations is performed as well. This article gives an overview of the Dutch system, with a focus on cleft lip (and palate) and the report of one center's experience. In general, voluntary termination of pregnancy in the second trimester has increased slightly since the introduction of the current system, but the termination-of-pregnancy rate for isolated cleft lip and palate remains limited in the Netherlands