Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon

Variations in genital development (VDG) account for 0.5% to 1% of births. Advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal diagnosis of these pathologies. However, to date, there is no consensus on etiological research and standardized management of these patients and their families, once VDG has been detected.

The value of multidisciplinary management has already been demonstrated, but a number of grey areas remain: the frequency of false-positive ultrasound findings, the place of invasive antenatal diagnostic tests, the role left to parents during the diagnostic process, the frequency of associated malformations discovered post-natally, and how to prepare for immediate management at birth.

The aim of this study is to improve the management of patients and their families as soon as a Disorders of Sexual Development is detected antenatally.

The primary objective is to describe the management, particularly complementary investigations performed in the antenatal management of ultrasound diagnoses of Disorders of Sexual Development over the last 10 years.

The secondary objectives are :

* To determine the correlation between pre- and post-natal morphological phenotype and the proportion of false positives in antenatal ultrasound diagnosis. * To characterize prenatally diagnosed Disorders of Sexual Development * To determine the proportion of isolated prenatally-diagnosed Disorders of Sexual Development that turn out not to be isolated during postnatal follow-up. * The evaluation of the care pathway :

* To establish the frequency of prenatal psychological support for parents * To establish the role of parents in prenatal diagnosis strategy decisions at our center

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Key information

Conditions

Endocrinology Androgen Abnormalities Androgen Overproduction Bladder Exstrophy Bladder Extrophy Cardiovascular Abnormalities Cardiovascular Diseases Chimera Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Disorders of Sexual Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genital Diseases Genital Diseases, Male Gonadal Development Abnormalities Gonadal Disorders Gonadal Dysgenesis Gonadal Dysgenesis, Mixed Heart Defects, Congenital Heart Diseases Hypogonadism Hypospadias Klinefelter Syndrome Klinefelter's Syndrome Male Urogenital Diseases Mixed Gonadal Dysgenesis Ovotesticular Disorders of Sex Development Ovotestis Penile Diseases Prenatal Diagnosis Psychology Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Turner Syndrome Urinary Bladder Diseases Urogenital Abnormalities Urogenital Diseases Urologic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Service d'endocrinologie pédiatrique HFME

Bron, 69500, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Fetuse of the hospital Femme-Mère-Enfant, the hospital Croix Rousse and Lyon-Sud hospital, reffered to Pluridisciplinary Centers for Prenatal Diagnosis (CPDPNs) for antenatal diagnosis (DAN) for a suspected isolated Disorders of Sexual Development (DSD) from January 2013 to December 2022.

Intrauterine growth retardation (RCIU), a muscular or minor ventricular septal defect, or a pyloric dilatation are not considered as an associated malformation.

Exclusion criteria

No follow-up file at the CPDPN of the hospital Femme-Mère-Enfant, the hospital Croix Rousse or of Lyon-Sud hospital.
Lack of data and identification of the child born.
Referred to CPDPN for urinary malformation including no VDG.

Treatment and study plan

Primary outcomes

Ancillary Study of Retrospective Analysis of Neonatal Management of Patients with ANtenatal Diagnosis of Variation of Genital Development at Lyon Hospital

Time frame: From January 2013 to December 2022.

Number and type of complementary investigations performed as part of antenatal management following ultrasound diagnoses of Disorders of Sexual Development over the past 10 years.

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

Ancillary Study of Retrospective Analysis of Neonatal Management of Patients with ANtenatal Diagnosis of Variation of Genital Development At Lyon Hospital

Acronym: PECAN-VDG

Important dates

Study start: 2023
Primary completion: 2023
Study completion: 2024
First posted: Nov 13, 2024
Registry last updated: Nov 13, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed