Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites

• Published in: British journal of dermatology (1951) Vol. 136; no. 2; pp. 267 - 271
• Main Authors: CHEN, C‐P., CHEN, H‐C., LIU, F‐F., JAN, S‐W., CHERN, S‐R., WANG, T‐Y., HUNG, H‐Y.
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.02.1997; Blackwell
• Subjects: Abnormalities, Multiple - diagnosis; Adult; Ascites - congenital; Biological and medical sciences; Chorionic Gonadotropin - blood; Female; Fetal Diseases - diagnosis; Gynecology. Andrology. Obstetrics; Humans; Infant, Newborn; Male; Management. Prenatal diagnosis; Medical sciences; Pregnancy; Pregnancy. Fetus. Placenta; Prenatal Diagnosis; Telangiectasis - congenital; Telangiectasis - diagnosis; Telangiectasis - pathology; Cutis marmorata telangiectica; Human; Skin disease; Effusion; Cardiovascular disease; Congenital disease; HCG; Vascular disease; Case study; Prenatal; Fetal diseases; Mother; Abdominal disease; Diagnosis; Hormonal investigation; Ascites
• ISSN: 0007-0963; 1365-2133
• DOI: 10.1046/j.1365-2133.1997.d01-1185.x

Summary A 34–year–old woman with an abnormal maternal serum screening result and a Down syndrome risk of 1:60 calculated from a maternal serum alpha–fetoprotein (AFP) value of 1.4 multiples of the median (MoM) and a human chorionic gonadotrophin (hCG) level of 4.32 MoM at 18 weeks' gestation was found to have isolated fetal ascites at 23 weeks' gestation. Spontaneous resolution occurred 10 weeks after the initial presentation. After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, micrognathia, seizures, an abnormal electroencephalogram, congenital retinal detachment, glaucoma and widely spaced toes. Our patient illustrates that CMTC in utero may be associated with a markedly elevated maternal serum hCG level as well as transitory isolated fetal ascites. However, such associations can be coincidental and further collaborative studies and cases will be necessary before it can be determined that a disproportionately elevated hCG level and transitory isolated fetal ascites are predictive of CMTC in utero.