Three Generations of FLNA-Associated Periventricular Nodular Heterotopia

We present a family with 3 generations of FLNA gene-associated periventricular nodular heterotopia (PVNH), with a unique presentation in a fetus with multiple neurologic malformations. Neurologic abnormalities were noted on routine fetal imaging for a 33-year-old G1P0 woman; absence of the corpus callosum and PVNH was confirmed on follow-up MRI. This prompted genetic evaluation, revealing a nonsense mutation in the FLNA gene. Familial genetic analysis and neuroimaging revealed the same variant and MRI evidence of PVNH in the fetus’s asymptomatic mother, and maternal grandmother, who had a long history of seizure disorder. Such phenotypic variability within a single family demonstrates the spectrum of PVNH and the importance of genetic counseling for patients with PVNH. This case also adds to existing literature on the rare but not unique presentation of FLNA-associated fetal malformations.

Episiotomy: Evolution of a Common Obstetric Practice at a Public Hospital

Objective This study aimed to evaluate the rate and impact of episiotomy on maternal and newborn outcomes before and after restricted use of episiotomy. Study Design This population-based observational study used an obstetric database of all deliveries since 1990 that has been maintained with quality checks. Inclusion criteria were vaginal deliveries at ≥37 weeks. Exclusion criteria included fetal malformations, multifetal gestations, or fetal deaths known on arrival to Labor and Delivery. The primary outcomes of interest were episiotomy, perineal lacerations, and newborn outcomes. To evaluate the impact of restrictive episiotomy, data from 1990 to 1997 (35% overall episiotomy rate) were compared with data from 2010 to 2017 (2.5% overall episiotomy rate). Univariable analysis of maternal and infant outcomes were performed comparing the two-time epochs with the Pearson's Chi-squared test. Results Overall, 268,415 women met inclusion criteria and 49,089 (18.2%) had an episiotomy. The rate of episiotomy decreased from 37% of deliveries in 1990 to 2% in 2017. A total of 82,082 deliveries occurred in the 1990 to 1997 epoch and 57,183 in 2010 to 2017. Indicated use of episiotomy was associated with a significant decrease in third and fourth degree lacerations. Immediate newborn condition (5-minute Apgar's score ≤3 and umbilical artery pH <7.1) and neonatal outcomes (intraventricular hemorrhage [IVH] grade 3/4, positive culture sepsis, neonatal seizures, and neonatal demise) were not significantly different. Conclusion Selective, indicated use of episiotomy compared with routine was associated with lower rates of third/fourth-degree lacerations with no change in neonatal outcomes. The common obstetric practice of routinely performing episiotomy, presumably to prevent perineal trauma, proved untrue when analyzed over almost three decades. Key Points

Risks and challenges in multiple pregnancy

Because of breakthroughs in reproductive medicine, multiple pregnancies have become more common in the industrialized world. As a result, obstetric care for women with multiple pregnancies and neonatal care for the same has become more demanding. Multifetal pregnancies are linked to an elevated risk for both the mother and child. There is increased incidence of obstetric complications such as spontaneous abortion, hypertensive disorders, placenta previa, and fetal malformations. Perinatal outcome is also affected which is attributable to increased incidence of fetal complications like prematurity, congenital malformations, growth discordance and cord accidents. We are presenting 2 cases, one of MCMA twin pregnancy with fetal congenital anomaly and another of a triplet pregnancy and their perinatal outcomes.

The exposure levels of phthalates in pregnant women and impact factors of fetal malformation

Methods Urine samples were collected from 157 women with fetal malformations (case group) and 147 women with normal fetuses (control group). High-performance liquid chromatography-mass spectrometry (HPLC-MS) was used to detect the content of eight metabolites of phthalate compounds in urine, including monoethyl phthalate (MEP), mononbutyl phthalate (MBP), monoisobutyl phthalate (MiBP), mono-(2-ethylhexyl) phthalate (MEHP), mono-(2-ethyl-5-hydroxyhexyl) phthalate (MEHHP), mono-(2-ethyl-5-carboxypentyl) phthalate (MECPP), mono-(2-ethyl-5-oxohexyl) phthalate (MEOHP), and mono-benzyl phthalate (MBzP). Demographic data were collected from questionnaires administered in specimen collection. Results The exposure level of MEOHP and MEHP in the case group was higher than the others. And there were significant differences between structural malformations and chromosomal malformations in the levels of MEHHP and MEOHP. Pregnant women with low income, high body mass index (BMI), frequent plastic contact, and low nutrients intake were at risk of suffering from fetal malformation. Conclusion This study provides evidence for the correlation between the concentration of phthalates and fetal malformation. In addition, decreasing plastic exposure and supplementing nutrients may reduce the incidence of fetal malformations.

The Application Value of Prenatal Ultrasound in the Diagnosis of Fetal Malformation

Ultrasound examination during pregnancy has become an important part of prenatal care in China and even the world, and it has a vital diagnostic role for malformations and lesions of various fetal systems. A variety of fetal malformations can be treated in utero after prenatal diagnosis or timely treatment after delivery. However, many congenital diseases cannot be confirmed by ultrasound diagnosis, or the prenatal ultrasound performance is inconsistent with the postpartum clinical outcome, which has become a shortcoming of ultrasound diagnosis during pregnancy. This article reviews the main points of ultrasound diagnosis of common fetal malformations.

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare. Kidney cysts may be the only isolated finding or be part of the overall phenotype. They can be asymptomatic, found by ultrasound accidentally or can manifest from mild to life-threatening symptoms. Therefore, early diagnosis is very important. Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are the most common causes of kidney cysts in the neonatal population. This review highlights the most common kidney cystic diseases during the neonatal period and a rare clinical case of HNF1B-associated disease.

Fetal MRI vs. fetal ultrasound in the diagnosis of pathologies of the central nervous system

Background Malformations of the central nervous system (CNS) constitute the 2nd most common group of fetal pathologies, which can be reflected throughout the patient's life. Fetal ultrasound (US), together with fetal magnetic resonance imaging (MRI) are extremely important techniques for the diagnosis of CNS malformations. The objective of this work was to address fetal US and fetal MRI, as well as the benefits of its use in different CNS pathologies and to ascertain which of the techniques presents better results. Methods For this systematic literature review, a search was conducted using databases such as PubMed® and ScienceDirect®, Google Scholar, b-on digital library, in a 10-year period, 2010 to 2020. 60 references were used, which met the inclusion criteria, namely compliance with the defined timeframe and the theme of the work to be addressed. Results As for the results, fetal US is the first-line technique for fetal evaluation, and its objective is to detect possible fetal malformations early, while fetal MRI complements the information collected through fetal US. When there are cases of isolated ventriculomegaly and complete agenesis of the corpus callosum, fetal US can correctly assess the pathology. When it comes to pathologies such as dysgenesis of the corpus callosum and malformations of the posterior fossa, fetal MRI evaluates more effectively in comparison to fetal US. Conclusions In conclusions, to reduce the number of false positives, the techniques should be used together, thus providing a better diagnosis.

Detection of genomic regions associated malformations in newborn piglets: a machine-learning approach

Background A significant proportion of perinatal losses in pigs occurs due to congenital malformations. The purpose of this study is the identification of genomic loci associated with fetal malformations in piglets. Methods The malformations were divided into two groups: associated with limb defects (piglet splay leg) and associated with other congenital anomalies found in newborn piglets. 148 Landrace and 170 Large White piglets were selected for the study. A genome-wide association study based on the gradient boosting machine algorithm was performed to identify markers associated with congenital anomalies and piglet splay leg. Results Forty-nine SNPs (23 SNPs in Landrace pigs and 26 SNPs in Large White) were associated with congenital anomalies, 22 of which were localized in genes. A total of 156 SNPs (28 SNPs in Landrace; 128 in Large White) were identified for piglet splay leg, of which 79 SNPs were localized in genes. We have demonstrated that the gradient boosting machine algorithm can identify SNPs and their combinations associated with significant selection indicators of studied malformations and productive characteristics. Data availability Genotyping and phenotyping data are available at http://www.compubioverne.group/data-and-software/.

Comparative analysis of congenital malformations of the fetus detected in the periods from 2010 to 2012 and from 2017 to 2019 (based on the materials of the maternity department of Rostov-on-Don)

Objective: to conduct a comparative analysis of the structure, number, and antenatal diagnosis of fetal malformations in two clinical groups. Materials and methods: a retrospective comparative analysis of the variations, frequency, and detectability of malformations and developmental abnormalities in newborns born in two groups was conducted for the periods from 2010 to 2012 (the first group) and from 2017 to 2019 (the second group). The study of these materials was conducted on the basis of the maternity department of the city hospital of Rostov-on-Don. Statistical processing of the obtained results was carried out using the programs Statistica 10 and Microsoft Excel 2013. Results: in the second group, the number of children with genital abnormalities increased. The number of children with skin abnormalities increased as well as the number of children with gastrointestinal malformations. There is a decrease in the number of abnormalities in the development of the musculoskeletal system and the circulatory system. The rate of cleavage of the lip and hard palate decreased. However, malformations of the fetus were not detected in all cases, although their detectability increased from 4.41% in 2010 – 2012 to 22.62% in 2017 – 2019, i.e. by 5.13 times. Conclusion. The search for modern, reliable, and non-invasive methods for diagnosing fetal malformations in early pregnancy is an important stage in the study of this issue. It is also important to train high-class ultrasound specialists as well as search for new biochemical markers of congenital genetic disorders.