Cheikhelard A, Luton D, Philippe-Chomette P, Leger J, Vuillard E, Garel C, Polak M, Nessmann C, Aigrain Y, El-Ghoneimi A
Departments of Pediatric Surgery and Urology, Obstetrics and Fetal Medicine, Pediatric Endocrinology, Pediatric Radiology and Fetopathology, Hôpital Robert Debré, Paris, France.
J Urol. 2000 Sep;164(3 Pt 2):984-7. doi: 10.1097/00005392-200009020-00016.
The prenatal diagnosis of abnormal genitalia may have a major impact on prenatal counseling and postnatal outcome. We studied the accuracy and clinical implications of the prenatal diagnosis of abnormal genitalia.
Between 1991 and 1999 the prenatal and/or postnatal diagnosis of abnormal genitalia in 53 cases was made at our institution. All cases were prenatally assessed at our Obstetrics and Fetal Medicine Department. Outcome was confirmed postnatally or by a fetopathologist in the case of pregnancy termination.
A genital anomaly was prenatally diagnosed in 43 cases and was accurate in 34, while in 9 cases anomalies were absent at birth. In 10 cases ambiguous genitalia were not detected prenatally. The primary anomalies suspected were male pseudohermaphroditism in 19 cases and female pseudohermaphroditism in 12, including 2 cases of congenital adrenal hyperplasia. Male pseudohermaphroditism was detected prenatally in 17 cases and diagnosis was confirmed at birth. Female pseudohermaphroditism was detected prenatally in 12 cases and only 5 were confirmed and the anomaly was discovered at birth in 6. The prognosis was highly altered when many malformations or aneuploidy was associated with ambiguous genitalia. Of the 15 patients with many malformations only 3 survived, and pregnancy was terminated in 3 of 4 cases of aneuploidy.
When pseudohermaphroditism was detected in a male fetus by an experienced ultrasonographer at a tertiary center the prenatal diagnosis was accurate in 100% of cases. The prenatal diagnosis was less accurate (46% correct) in a female fetus.
外生殖器异常的产前诊断可能对产前咨询及产后结局产生重大影响。我们研究了外生殖器异常产前诊断的准确性及临床意义。
1991年至1999年间，我院对53例外生殖器异常进行了产前和/或产后诊断。所有病例均在我院妇产科及胎儿医学科进行了产前评估。结局在产后得到证实，或在终止妊娠的情况下由胎儿病理学家确认。
43例产前诊断为生殖器异常，其中34例诊断准确，9例出生时无异常。10例两性畸形产前未被检测到。怀疑的主要异常为19例男性假两性畸形和12例女性假两性畸形，其中包括2例先天性肾上腺皮质增生症。17例男性假两性畸形产前被检测到，出生时诊断得到证实。12例女性假两性畸形产前被检测到，仅5例得到证实，6例出生时发现异常。当多种畸形或非整倍体与两性畸形相关时，预后会发生很大改变。15例有多种畸形的患者中仅3例存活，4例非整倍体病例中有3例终止妊娠。
在三级中心，由经验丰富的超声检查医师在男性胎儿中检测到假两性畸形时，产前诊断的准确率为100%。在女性胎儿中，产前诊断的准确性较低（正确诊断率为46%）。
