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

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

Status
Completed
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT06687252
Acronym
PECAN-VDG
Enrollment
170
Registered
2024-11-13
Start date
2023-10-01
Completion date
2024-07-01
Last updated
2024-11-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Androgen Abnormalities, Androgen Overproduction, Bladder Extrophy, Chimera, Disorders of Sexual Development, Endocrinology, Gonadal Development Abnormalities, Gonadal Dysgenesis, Hypospadias, Klinefelter's Syndrome, Mixed Gonadal Dysgenesis, Ovotestis, Prenatal Diagnosis, Psychology, Turner Syndrome

Keywords

Endocrinology, Disorders of Sexual Development, Prenatal diagnosis, Psychology, Gonadal dysgenesis, Androgens, Hypospadias, Bladder extrophy, Sexual development, Turner syndrome, Klinefelter's syndrome, Gonadal dysgenesis, mixed, Ovotesticular disorders of sex development, Chimera

Brief summary

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

Interventions

None listed

Sponsors

Hospices Civils de Lyon
Lead SponsorOTHER

Study design

Observational model
COHORT
Time perspective
RETROSPECTIVE

Eligibility

Sex/Gender
ALL
Healthy volunteers
No

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.

Design outcomes

Primary

MeasureTime frameDescription
Ancillary Study of Retrospective Analysis of Neonatal Management of Patients with ANtenatal Diagnosis of Variation of Genital Development at Lyon HospitalFrom 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.

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026