Ethical issues in fetal therapies of life-threatening malformations.

Unlike any other medical field, fetal medicine addresses two patients: the fetus and the mother. Its primary goal is to improve neonatal outcomes, specifically by reducing mortality and morbidity, including long-term impacts, while minimizing risks to the mother. The aim of fetal interventions for life-threatening malformations is to decrease morbidity and mortality by mitigating the impact of the malformation on fetal growth and development.

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.

Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.

Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges.

Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study.

Objective: To determine the prevalence of genetic and endocrine abnormalities and to assess fetal, neonatal and surgical outcomes in cases of hypospadias associated with fetal growth restriction.

Method: A multicentric retrospective study was conducted across five prenatal diagnosis centers in Paris. The cohort encompassed all fetuses diagnosed with the combination of fetal growth restriction < 10th percentile (FGR) and hypospadias from 2013 to 2021.

Fetal Therapy for Congenital Pulmonary Malformations: A Prospective Population-Based National Cohort Study.

Objective: To assess the frequency of fetal therapy for fetuses with congenital pulmonary malformations (CPMs) and to investigate their short-term outcomes.

Method: The study population included 435 singleton fetuses diagnosed with CPMs from a national population-based cohort study in France in 2015-2018. Information was obtained from medical records on CPM volume ratio (CVR), signs of compression, fetal therapy and perinatal outcomes.

Mini-Laparoscopic Cholecystectomy During the Late Second and Third Trimesters of Pregnancy.

Background: Mini-laparoscopic cholecystectomy (MLC) reduces abdominal wall injury and has the advantage of not altering the surgical principles of conventional laparoscopic cholecystectomy. Our team recently decided to extend the indications for mini-laparoscopy to pregnant women requiring cholecystectomy in the late second and third trimesters when significant uterine height is a potential difficulty.

Methods: From January 2022, all patients who underwent MLC after five months of pregnancy were included in the analysis.

Tracheomalacia and tracheomegaly in infants and children with congenital diaphragmatic hernia managed with and without fetoscopic endoluminal tracheal occlusion (FETO): a multicentre, retrospective cohort study.

Background: Temporary fetoscopic endoluminal tracheal occlusion (FETO) promotes lung growth and increases survival in selected fetuses with congenital diaphragmatic hernia (CDH). FETO is performed percutaneously by inserting into the trachea a balloon designed for vascular occlusion. However, reports on the potential postnatal side-effects of the balloon are scarce.

Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines.

Aim: This aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines.

Methods: This is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM.

Validity of a Delphi consensus definition of growth restriction in the newborn for identifying neonatal morbidity.

Background: Small for gestational age is defined as a birthweight below a birthweight percentile threshold, usually the 10th percentile, with the third or fifth percentile used to identify severe small for gestational age. Small for gestational age is used as a proxy for growth restriction in the newborn, but small-for-gestational-age newborns can be physiologically small and healthy. In addition, this definition excludes growth-restricted newborns who have weights more than the 10th percentile.

Idiopathic polyhydramnios and postnatal outcomes of children: The role of exome sequencing.

Objectives: The objective of our study was to evaluate the long-term outcome of children born from a pregnancy complicated by idiopathic polyhydramnios. The secondary objective was to investigate factors associated with adverse outcomes.

Methods: We conducted a retrospective study in two prenatal diagnosis centers between January 1, 2009 and December 31, 2020.

[Antenatal care for fetuses with congenital diaphragmatic hernia].

Congenital diaphragmatic hernia (CDH) can be diagnosed prenatally and its severity assessed by fetal imaging. The prognosis of a fetus with CDH is based on whether or not the hernia is isolated, the measurement of lung volume on ultrasound and MRI, and the position of the liver. The birth of a child with CDH should take place in a center adapted to the care of such children, and in accordance with the recommendations defined by the French National Diagnosis and Care Protocol.

Reference Values for Serum Calcium in Neonates Should Be Established in a Population of Vitamin D-Replete Subjects.

Context: Serum calcium is frequently measured during the neonatal period, and it is known to be influenced by the vitamin D status.

Objective: We hypothesized that the 25-hydroxyvitamin D (25OHD) concentration may influence the lower limit of the serum calcium normal range in neonates.

Methods: We included in our prospective cohort study 1002 mother-newborn pair recruited from April 2012 to July 2014, in 2 centers located in the neighborhoods of Paris, France, whose serum calcium was measured at 3 days of life.

Serum calcium normal range in 1000 term newborns.

Introduction: Serum calcium rapidly declines at birth because of the sudden interruption of the maternal-fetal calcium influx. Several factors are known to influence serum calcium in the first days of life, including circulating concentrations of maternal vitamin D. Objective was to establish the normal range variations of neonatal serum calcium according to the French current vitamin D supplementation during pregnancy, i.

European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis.

Background: The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care.

Method: A systematic literature search including 136 publications was conducted. Research findings were assessed following the GRADE methodology.

Managing sickle cell disease and related complications in pregnancy: results of an international Delphi panel.

Data to guide evidence-based management of pregnant people with sickle cell disease (SCD) are limited. This international Delphi panel aimed to identify consensus among multidisciplinary experts for SCD management during pregnancy. The 2-round Delphi process used questionnaires exploring 7 topics (antenatal care, hydroxyurea use, transfusion, prevention of complications, treatment of complications, delivery and follow-up, and bottlenecks and knowledge gaps) developed by a steering committee.

Fetoscopic endoluminal tracheal occlusion vs expectant management for fetuses with severe left-sided congenital diaphragmatic hernia.

Background: The treatment of fetuses with a congenital diaphragmatic hernia is challenging, but there is evidence that fetoscopic endoluminal tracheal occlusion has a benefit over expectant care. In addition, standardization and expertism have a great impact on survival and are probably crucial in centers that rely on expectant management with extracorporeal membrane oxygenation after birth.

Objective: This study aimed to examine the survival and morbidity rates of fetuses with a severe isolated left-sided congenital diaphragmatic hernia who underwent fetoscopic endoluminal tracheal occlusion vs expectant management in high-volume centers.

Managing pregnancy in patients with sickle cell disease from a transfusion perspective.

Advances in the management of sickle cell disease (SCD) have made it possible for most female patients (whether homozygous or compound heterozygous) to reach childbearing age and become pregnant. However, even in the less symptomatic forms of SCD a high risk of complications during pregnancy and the postpartum period can occur for both the mother (1% to 2% mortality) and the fetus. Coordinated care from the obstetrician and the sickle cell disease expert is essential, together with the active participation of the patient.