AI Article Synopsis

  • The study examined prenatal findings in cases of disorders or differences of sex development (DSDs) diagnosed after birth at a specialized center.
  • Prenatal ultrasounds and cell-free fetal DNA (cffDNA) tests were conducted on 57 DSD cases, revealing discrepancies between ultrasound findings and cffDNA interpretations for determining genotypic sex.
  • The authors recommend developing a prenatal investigation algorithm and emphasize the importance of counseling for parents by an experienced multidisciplinary team regarding DSD management.

Article Abstract

Introduction And Objective: Prenatal suspicion of disorders/differences of sex development (DSDs) is a relatively new phenomenon. The aim of this study was to review the prenatal findings of DSD cases postnatally diagnosed in our tertiary referral center.

Methods: We evaluated 57 DSD cases with sex ambiguity who had undergone prenatal ultrasound with phenotypic sex assessment and/or cell-free fetal DNA (cffDNA) for genotypic sex assessment.

Results: Prenatal cffDNA had been performed in 32 cases, being positive (suggestive of male genotypic sex) in 26 and negative (suggestive of female genotypic sex) in 6. Five with cffDNA negative had a prenatal ultrasound indicating female external genitalia, in turn, in those with cffDNA positive, only two had a prenatal ultrasound indicating male external genitalia. Our postnatal data showed that when external genitalia were female or poorly virilized, prenatal ultrasound indicated female sex, but in cases of higher degree of virilization, ultrasound showed similar rates of male, female, or undetermined sex. Regarding the karyotype, our data showed those with XY karyotype had positive cffDNA, those with XX karyotype had negative cffDNA, and all five with sex chromosome anomalies had positive cffDNA because they were 45,X/46,XY. We suggested an algorithm to investigate these cases during gestation, including evaluation of uterus, fetal growth, and malformations.

Conclusion: We suggest that the parents should be counseled prenatally by a dedicated multidisciplinary team with experience in DSD management and evaluated as soon as possible after birth.

Download full-text PDF

Source
http://dx.doi.org/10.1159/000534401DOI Listing

Publication Analysis

Top Keywords

prenatal ultrasound
16
genotypic sex
12
external genitalia
12
sex
10
prenatal
8
prenatal findings
8
sex development
8
dsd cases
8
ultrasound indicating
8
positive cffdna
8

Similar Publications

Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.

View Article and Find Full Text PDF

Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.

View Article and Find Full Text PDF

Objectives: In this study, buprenorphine was the primary source of maternal opioid exposure at the time of initial prenatal evaluation. Current recommendations advise that level II ultrasounds be performed in patients with substance use disorders. For some patients, distance, transportation, and costs associated with obtaining ultrasounds from a specialist pose significant barriers.

View Article and Find Full Text PDF

Previous research indicates that both adults and newborns show enhanced electrophysiological and behavioral responses to schematic face-like configurations (FCs-three dots composing a downward-pointing triangle), as compared to the inverted configurations (ICs). Even fetuses, when exposed to light stimuli projected through the uterine wall, preferentially orient their heads toward FCs rather than ICs. However, when this effect emerges along the third trimester of pregnancy and in relation to the maturation of which brain structures is still unknown.

View Article and Find Full Text PDF

Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.

Methods: From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!