Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.

Children conceived through assisted reproductive technologies (ART) have an elevated risk of lower birthweight, yet the underlying cause remains unclear. Our study explores mitochondrial DNA (mtDNA) variants as contributors to birthweight differences by impacting mitochondrial function during prenatal development. We deep-sequenced the mtDNA of 451 ART and spontaneously conceived (SC) individuals, 157 mother-child pairs and 113 individual oocytes from either natural menstrual cycles or after ovarian stimulation (OS) and find that ART individuals carried a different mtDNA genotype than SC individuals, with more de novo non-synonymous variants.

Hearing the voices of midwives through reflective writing journals: Qualitative research on an educational intervention for Respectful Maternity Care in Zimbabwe.

Women attending public and private sector health facilities in Africa have reported abuse and neglect during childbirth, which carries a risk of poor health outcomes. We explored from the midwives' perspective the influence of an educational intervention in changing the attitudes, behaviour and practices of a group of midwives in Zimbabwe, using transformative learning theory as the conceptual framework. The twelve-week educational intervention motivating for Respectful Maternity Care consisted of a two-day workshop and five follow-up sessions every two weeks.

Development of a 3D ultrafast laser written near-infrared spectro-interferometer.

Direct ultrafast laser photoinscription of transparent materials is a powerful technique for the development of embedded 3D photonics. This is particularly adaptable for astrophotonic devices when a number of inputs are required. The process relies essentially on volume fabrication of waveguiding structures in flexible 3D designs and refractive index contrast parameters adjustable for specific spectral ranges.

Impact of embryo vitrification on children's health, including growth up to two years of age, in comparison with results following a fresh embryo transfer.

Objective: To assess health outcomes, including growth up to 2 years of age, in children born after embryo vitrification in comparison with children born after fresh embryo transfer.

Design: A prospective cohort study.

Setting: A single-center university hospital.

Waveguide scattering antennas made by direct laser writing in bulk glass for spectrometry applications in the short-wave IR.

A buried straight waveguide perturbed periodically by six antennas composed of submicronic cylinder voids is entirely fabricated using ultrafast laser photoinscription. The light scattered from each antenna is oriented vertically and is detected by a short-wave IR camera bonded to the surface of the glass with no relay optics. The response of each antenna is analyzed using a wavelength tunable laser source and compared to simulated responses verifying the behavior of the antenna.

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.

Background: Premature ovarian insufficiency (POI) is a heterogeneous clinical syndrome defined by a premature loss of ovarian function that associates menstrual disturbances and hypergonatropic hypogonadism. POI is a major cause of female infertility affecting 1% of women before the age of 40 and up to 0.01% before the age of 20.

Near IR stationary wave Fourier transform lambda meter in lithium niobate: multiplexing and improving optical sampling using spatially shifted nanogroove antenna.

Several integrated optics solutions currently exist to develop monolithic, robust, and lightweight high-resolution spectrometers for spatial applications. An interesting option is generating a stationary wave inside a single-mode waveguide, and sampling the interference fringes using dielectric discontinuities on the surface of the waveguide. This allows the recording of the signal on a detector on top of the waveguide, and using dedicated Fourier transform methods to recover the spectrum of the source.

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.

Objective: To find the genetic etiology of premature ovarian insufficiency (POI) in a patient with primary amenorrhea and hypergonadotropic hypogonadism.

Design: Case report.

Setting: University hospital.

Erratum to: Health of 2-year-old children born after vitrified oocyte donation in comparison with peers born after fresh oocyte donation.

[This corrects the article DOI: 10.1093/hropen/hoab002.].

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder. Non-ocular symptoms include not only hearing loss but also signs of connective tissue fragility, placing it in the Ehlers-Danlos syndrome (EDS) spectrum. It is caused by biallelic pathogenic variants in ZNF469 or PRDM5, which presumably encode transcription factors for extracellular matrix components.

Health of 2-year-old children born after vitrified oocyte donation in comparison with peers born after fresh oocyte donation.

Study Question: Does oocyte vitrification adversely affect the health of 2-year-old children compared with peers born after use of fresh oocytes in a donation programme?

Summary Answer: The growth and health of 2-year-old children born after oocyte vitrification are similar to those of peers born after use of fresh oocytes.

What Is Known Already: Although oocyte vitrification is a well-established procedure in ART, the evidence on its safety for offspring is limited. Currently, no disadvantageous effects of oocyte vitrification have been shown in terms of obstetric and neonatal outcome.

Follow-up in the field of reproductive medicine: an ethical exploration.

Research Question: What ethical implications, issues and concerns play a role in conducting follow-up studies of children born after assisted reproductive technologies (ART)?

Design: Literature study and relevant experiences of academic medical centres in Brussels, Belgium, and Maastricht, the Netherlands were used to identify and analyse the most pertinent ethical implications, issues and concerns.

Results: According to recommendations from the European Society of Human Reproduction and Embryology, follow-up (ideally long term) of children conceived through medically assisted reproduction (MAR) should be an integral part of introducing new ART. With potentially risky new ART on the horizon, these recommendations need to be taken more seriously.

Chromosomal abnormalities after ICSI in relation to semen parameters: results in 1114 fetuses and 1391 neonates from a single center.

Study Question: Is there a relationship between karyotype abnormalities in fetuses and children conceived by ICSI and their father's semen parameters?

Summary Answer: The de novo chromosomal abnormality rate in pre- and postnatal karyotypes of ICSI offspring was higher than in the general population and related to fathers' sperm parameters.

What Is Known Already: Several studies have reported a higher rate of de novo chromosomal anomalies in ICSI fetuses but recent data from large cohorts are limited. Overall, reported prevalences of non-inherited karyotype aberrations are increased in fetuses conceived after ICSI and vary between 1.

Growth and other health outcomes of 2-year-old singletons born after IVM versus controlled ovarian stimulation in mothers with polycystic ovary syndrome.

Study Question: Does maturation (IVM) of immature oocytes affect health, including growth at 2 years of age, in singletons born to mothers with polycystic ovary syndrome (PCOS)?

Summary Answer: This study of 92 singletons born after IVM in mothers with PCOS showed no significant differences in anthropometry and health outcome parameters in comparison with a cohort of 74 peers born after intracytoplasmic sperm injection (ICSI) and conventional controlled ovarian stimulation (COS) in mothers with PCOS.

What Is Known Already: IVM has been used worldwide in women with PCOS. However, the paucity of available data related to children's health following IVM is an important impediment to a more widespread use of the technology.

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Background: In the majority of familial breast cancer (BC) families, the etiology of the disease remains unresolved. To identify missing BC heritability resulting from relatively rare variants (minor allele frequency ≤ 1%), we have performed whole exome sequencing followed by variant analysis in a virtual panel of 492 cancer-associated genes on BC patients from BRCA1 and BRCA2 negative families with elevated BC risk.

Methods: BC patients from 54 BRCA1 and BRCA2-negative families with elevated BC risk and 120 matched controls were considered for germline DNA whole exome sequencing.

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Study Question: What are the factors influencing the success rate for couples undergoing preimplantation genetic testing (PGT) for polycystic kidney disease (PKD)?

Summary Answer: In our study cohort, the live birth delivery rate is significantly associated with female age while the male infertility accompanying autosomal dominant PKD (ADPKD) does not substantially affect the clinical outcome.

What Is Known Already: While women with ADPKD have no specific fertility problems, male ADPKD patients may present with reproductive system abnormalities and infertility.

Study Design, Size, Duration: This retrospective cohort study involves 91 PGT cycles for PKD for 43 couples (33 couples for PKD1, 2 couples for PKD2 and 8 couples for autosomal recessive PKD (ARPKD)) from January 2005 until December 2016 with follow-up of transfers until end of 2017.

Body composition and blood pressure in 6-year-old singletons born after pre-implantation genetic testing for monogenic and structural chromosomal aberrations: a matched cohort study.

Study Question: Does Day 3 embryo biopsy for pre-implantation genetic testing for monogenic (PGT-M) and structural chromosomal aberrations (PGT-SR) affect body composition and blood pressure readings of 6-year-old singletons?

Summary Answer: This study of 87 PGT-M and PGT-SR conceived singletons showed no differences in anthropometric measurements and blood pressure readings in comparison with a matched cohort of peers born after ICSI without embryo biopsy.

What Is Known Already: While neonatal outcomes after PGT conception have been found comparable to those after ICSI without embryo biopsy, only a few studies have reported outcomes after PGT at older ages. Moreover, embryo biopsy is also applied in couples who opt for PGT-M and PGT-SR and hence are not necessarily infertile.

Endocrine and reproductive profile of boys and young adults conceived after ICSI.

Purpose Of Review: The impact of intracytoplasmic sperm injection (ICSI), on the reproductive health of the offspring is largely unknown. Here we provide a comprehensive overview of the endocrine and reproductive profile in boys and young male adults born after ICSI using ejaculated spermatozoa alleviating male factor infertility in their parents.

Recent Findings: Levels of testosterone, anti-Müllerian hormone and inhibin B were found comparable in prepubertal and pubertal boys conceived by ICSI when compared with levels in boys conceived spontaneously.

Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening.

Objective: Comprehensive chromosome examination is a promising approach to Preimplantation Genetic Testing (PGT). Next to testing of specific chromosomes, such as in the case of reduced fertility due to chromosomal translocations, it allows testing of all chromosomes. Hence it potentially reduces the time to pregnancy and the risk of miscarriage.

Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial.

Study Question: Does preimplantation genetic testing for aneuploidy (PGT-A) by comprehensive chromosome screening (CCS) of the first and second polar body to select embryos for transfer increase the likelihood of a live birth within 1 year in advanced maternal age women aged 36-40 years planning an ICSI cycle, compared to ICSI without chromosome analysis?

Summary Answer: PGT-A by CCS in the first and second polar body to select euploid embryos for transfer does not substantially increase the live birth rate in women aged 36-40 years.

What Is Known Already: PGT-A has been used widely to select embryos for transfer in ICSI treatment, with the aim of improving treatment effectiveness. Whether PGT-A improves ICSI outcomes and is beneficial to the patients has remained controversial.

Metabolic Syndrome and Its Components in Young Adults Conceived by ICSI.

Background: Intracytoplasmic sperm injection (ICSI) conception presents the early embryo with a radically different environment, which may lead to permanent alterations to key cardiometabolic processes. Blood pressure, indicators of insulin resistance, and lipid profiles have previously been studied in offspring born after in vitro fertilisation (IVF) and ICSI, with conflicting findings. Also, results in young adults born after ICSI are lacking.

Body fat content, fat distribution and adipocytokine production and their correlation with fertility markers in young adult men and women conceived by intracytoplasmic sperm injection (ICSI).

Objective: Differences in body fat content during childhood and adolescence have been described in offspring conceived by in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI). However, data on body fat and its distribution as well as on adipocytokine production in young adults conceived by ICSI are nonexistent. We investigated if young adult men and women conceived by ICSI have a normal body fat patterning and adipocytokine production.

Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant - Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.

Background: Patients with Brugada syndrome (BrS) and a history of syncope or sustained ventricular arrhythmia have longer right ventricular ejection delays (RVEDs) than asymptomatic BrS patients. Different types ofSCN5Avariants leading to different reductions in sodium current (I) may have different effects on conduction delay, and consequently on electromechanical coupling (i.e.