Fetal genital anomalies: an aid to diagnosis

Pajkrt, Eva; Petersen, Olav Bjørn; Chitty, Lyn S.

doi:10.1002/pd.1979

Cited by 23 publications

(23 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Aneuploidies and mosaicisms of sexual chromosomes are the most frequent. Other anomalies such as Wolf-Hirschhorn (4p-) syndrome, or ring chromosome 8, have been reported in the literature [16] .…”

Section: Other Anomaliesmentioning

confidence: 99%

Amniocentesis Performed for Karyotyping after Identified Ultrasonographic Abnormalities: What to Expect?

et al. 2011

View full text Add to dashboard Cite

Objectives: The aim of this study was to evaluate the relative risk of identifying fetal chromosomal anomalies after finding ultrasonographic (US) abnormalities in a high-risk population who underwent amniocentesis. Methods: A retrospective review of a cohort of patients with single pregnancies who underwent genetic amniocentesis was undertaken. Univariate and multivariate analysis were used to determine the best correlations between US findings and chromosomal abnormalities. Results: Overall, 191 chromosomal abnormalities were found in 5,604 fetuses (3.4%). Multivariate analysis showed chromosomal abnormalities were significant ly associated with anomalies of the central nervous system (OR = 4.4, 95% CI 2.2-8.7), face and neck (OR = 15.7, 95% CI 9.2-26.8), heart (OR = 5.4, 95% CI 2.6-11.2), abdomen (OR = 5.6, 95% CI 2.9-10.9), extremities (OR = 5.7, 95% CI 2.4-13.4), an increased nuchal fold (OR = 5.2, 95% CI 3.3-8.1), an intrauterine growth restriction (OR = 3.6, 95% CI 1.6-7.9) and a short femur (OR = 4.1, 95% CI 1.4-12.1). Conclusions: Our results confirm the validity of specific US markers in detecting chromosomal abnormalities in the fetus.

show abstract

Section: Other Anomaliesmentioning

confidence: 99%

Amniocentesis Performed for Karyotyping after Identified Ultrasonographic Abnormalities: What to Expect?

et al. 2011

View full text Add to dashboard Cite

show abstract

“…The repartition of phenotypes is not significantly different between the 1985–1995 vs the 1996–2005 periods ( P = 0.55, Fisher's exact test) and vs the 2006–2017 period ( P = 0.09). Studies included in this figure are .…”

Section: Discussionmentioning

confidence: 99%

“…Recent studies are even more likely to face this variability, as minor phenotypes that were rarely detected in the past are more commonly identified before birth today (Fig. 3) [8, [10][11][12]15,[19][20][21][30][31][32][33][34][35]. Despite this wide clinical variability, the PPV of prenatal screening has improved.…”

Section: Discussionmentioning

confidence: 99%

Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms

et al. 2019

View full text Add to dashboard Cite

Objectives To report the clinical spectrum of genital defects diagnosed before birth, identify predictive factors for severe phenotypes at birth, and determine the rate of associated malformations. Patients and methods A retrospective study (2008–2017) of 4580 fetuses, identified prenatally with abnormalities evaluated by our Reference Center for Fetal Medicine, included cases with fetal sonographic findings of abnormal genitalia or uncertainty of fetal sex determination. Familial, prenatal and postnatal data were collected via a standardised questionnaire. Results In all, 61 fetuses were included. The positive predictive value (PPV) of the prenatal diagnosis of genital defects was 90.1%. Most cases were 46,XY‐undervirilized boys, 42 cases (68.8%), which included 29 with mid‐penile or posterior hypospadias, nine with anterior hypospadias, and epispadias, micropenis, scrotal transposition, and buried penis (one each). In all, 46,XX‐virilized girls were identified in seven cases (11.5%), which included four with congenital adrenal hyperplasia, two with isolated clitoromegaly, and one with ovotestis. Other defects included prune belly syndrome and persistent cloaca (six cases). Early detection during the second trimester (58.1% vs 18.8%, P = 0.03), intra‐uterine growth restriction (IUGR) (45.2% vs 9.1%, P = 0.06), and curvature of the penis (38.7% vs 0%, P = 0.02), were more frequently related to severe defects in male newborns. Associated malformations (14 cases, 22.9%) and genetic defects (six) were frequent in undervirilized boys. Conclusion Prenatal imaging of genital defects leads to a wide range of phenotypes at birth. Its PPV is high and extra‐urinary malformations are frequent. Early diagnosis during the second trimester, associated IUGR, and curvature of the genital tubercle, should raise suspicion of a severe phenotype and may justify delivery near a multidisciplinary disorders/differences of sex development team.

show abstract

“…Ongoing developments in antenatal imaging have resulted in improved detection of genitourinary pathology in the female fetus. Antenatally detectable conditions include ovarian cysts (Bryant and Laufer 2004), hydrocolpos (Winderl and Silverman 1995;Dhombres et al 2007), cloacal malformations Warne et al (2002a, b), ambiguous external genitalia (Pajkrt et al 2008) and congenital adrenal hyperplasia (Chambrier et al 2002). Postnatal US imaging follow-up is indicated in these children and will contribute significantly to subsequent management.…”

mentioning

confidence: 99%